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<!--
|
||
UID=10135
|
||
ConceptID=C0026848
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myopathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10135</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Muscle Disorder; Muscle Disorders; Muscular Disease; Muscular Diseases; Myopathic Condition; Myopathic Conditions; Myopathies</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Disorder of muscle (129565002); Myopathic disease (129565002); Myopathy (129565002); Disorder of skeletal AND/OR smooth muscle (129565002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003198">HP:0003198</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005336" target="_blank">MONDO:0005336</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/590030" target="_blank">590030</a>; <a href="https://omim.org/entry/590075" target="_blank">590075</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0026848[DISCUI]&test_type=Clinical" ref="ncbi_uid=10135">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=10135" target="_blank" href="/omim/590030">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10135" ref="ncbi_uid=10135">V</a></span></span><span class="TLline">Myopathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="matched_ds">Myopathy</span><ul><li><span class="TLline"><a href="/medgen/777997" ref="tree=MeSH" title="MedGen record for Actin accumulation myopathy">Actin accumulation myopathy</a></span></li><li><span class="TLline"><a href="/medgen/2455" ref="tree=MeSH" title="MedGen record for Arthrogryposis">Arthrogryposis</a></span><ul><li><span class="TLline"><a href="/medgen/67391" ref="tree=MeSH" title="MedGen record for Congenital contractural arachnodactyly">Congenital contractural arachnodactyly</a></span></li><li><span class="TLline"><a href="/medgen/120516" ref="tree=MeSH" title="MedGen record for Freeman-Sheldon syndrome">Freeman-Sheldon syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/156267" ref="tree=MeSH" title="MedGen record for Atrophic muscular disease">Atrophic muscular disease</a></span><ul><li><span class="TLline"><a href="/medgen/44527" ref="tree=MeSH" title="MedGen record for Muscular dystrophy">Muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/339580" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2I">Autosomal recessive limb-girdle muscular dystrophy type 2I</a></span></li><li><span class="TLline"><a href="/medgen/332193" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2K">Autosomal recessive limb-girdle muscular dystrophy type 2K</a></span></li><li><span class="TLline"><a href="/medgen/182959" ref="tree=MeSH" title="MedGen record for Becker muscular dystrophy">Becker muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/413043" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy due to LMNA mutation">Congenital muscular dystrophy due to LMNA mutation</a></span></li><li><span class="TLline"><a href="/medgen/155541" ref="tree=MeSH" title="MedGen record for Distal myopathy">Distal myopathy</a></span></li><li><span class="TLline"><a href="/medgen/3925" ref="tree=MeSH" title="MedGen record for Duchenne muscular dystrophy">Duchenne muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98047" ref="tree=MeSH" title="MedGen record for Eichsfeld type congenital muscular dystrophy">Eichsfeld type congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/96078" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy">Emery-Dreifuss muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/65956" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy">Facioscapulohumeral muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/5342" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VII">Glycogen storage disease, type VII</a></span></li><li><span class="TLline"><a href="/medgen/151940" ref="tree=MeSH" title="MedGen record for Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/224728" ref="tree=MeSH" title="MedGen record for Merosin deficient congenital muscular dystrophy">Merosin deficient congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1640757" ref="tree=MeSH" title="MedGen record for Miyoshi muscular dystrophy 1">Miyoshi muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/1715069" ref="tree=MeSH" title="MedGen record for Muscular Dystrophy Secondary to Mitochondrial Disorder">Muscular Dystrophy Secondary to Mitochondrial Disorder</a></span></li><li><span class="TLline"><a href="/medgen/1711158" ref="tree=MeSH" title="MedGen record for Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder">Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder</a></span></li><li><span class="TLline"><a href="/medgen/140820" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></span></li><li><span class="TLline"><a href="/medgen/924974" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></span></li><li><span class="TLline"><a href="/medgen/461761" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2</a></span></li><li><span class="TLline"><a href="/medgen/462869" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></span></li><li><span class="TLline"><a href="/medgen/461764" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6</a></span></li><li><span class="TLline"><a href="/medgen/461766" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2</a></span></li><li><span class="TLline"><a href="/medgen/10239" ref="tree=MeSH" title="MedGen record for Myotonic dystrophy">Myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/75730" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy">Oculopharyngeal muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98373" ref="tree=MeSH" title="MedGen record for Scapulohumeral muscular dystrophy">Scapulohumeral muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98046" ref="tree=MeSH" title="MedGen record for Ullrich congenital muscular dystrophy 1A">Ullrich congenital muscular dystrophy 1A</a></span></li><li><span class="TLline"><a href="/medgen/75553" ref="tree=MeSH" title="MedGen record for Walker-Warburg congenital muscular dystrophy">Walker-Warburg congenital muscular dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/36363" ref="tree=MeSH" title="MedGen record for Post poliomyelitis syndrome">Post poliomyelitis syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/331805" ref="tree=MeSH" title="MedGen record for Bethlem myopathy">Bethlem myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/907426" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 2">Bethlem myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/893688" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1A">Bethlem myopathy 1A</a></span></li><li><span class="TLline"><a href="/medgen/1859128" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1B">Bethlem myopathy 1B</a></span></li><li><span class="TLline"><a href="/medgen/1854240" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1C">Bethlem myopathy 1C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40417" ref="tree=MeSH" title="MedGen record for Compartment syndrome">Compartment syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1569" ref="tree=MeSH" title="MedGen record for Anterior compartment of tibia syndrome">Anterior compartment of tibia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1711297" ref="tree=MeSH" title="MedGen record for Chronic Exertional Compartment Syndrome">Chronic Exertional Compartment Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/453249" ref="tree=MeSH" title="MedGen record for Intra-Abdominal Hypertension">Intra-Abdominal Hypertension</a></span></li><li><span class="TLline"><a href="/medgen/22684" ref="tree=MeSH" title="MedGen record for Volkmann contracture">Volkmann contracture</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/340597" ref="tree=MeSH" title="MedGen record for Congenital multicore myopathy with external ophthalmoplegia">Congenital multicore myopathy with external ophthalmoplegia</a></span><ul><li><span class="TLline"><a href="/medgen/871103" ref="tree=MeSH" title="MedGen record for Type 1 and type 2 muscle fiber minicore regions">Type 1 and type 2 muscle fiber minicore regions</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/324513" ref="tree=MeSH" title="MedGen record for Congenital myopathy 23">Congenital myopathy 23</a></span></li><li><span class="TLline"><a href="/medgen/108177" ref="tree=MeSH" title="MedGen record for Congenital myopathy with fiber type disproportion">Congenital myopathy with fiber type disproportion</a></span></li><li><span class="TLline"><a href="/medgen/156050" ref="tree=MeSH" title="MedGen record for Congenital structural myopathy">Congenital structural myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1645741" ref="tree=MeSH" title="MedGen record for Autosomal dominant centronuclear myopathy">Autosomal dominant centronuclear myopathy</a></span></li><li><span class="TLline"><a href="/medgen/199773" ref="tree=MeSH" title="MedGen record for Central core disease">Central core disease</a></span></li><li><span class="TLline"><a href="/medgen/56484" ref="tree=MeSH" title="MedGen record for Inborn mitochondrial myopathy">Inborn mitochondrial myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/444140" ref="tree=MeSH" title="MedGen record for Adenosine monophosphate deaminase deficiency">Adenosine monophosphate deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1393682" ref="tree=MeSH" title="MedGen record for Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy">Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy</a></span></li><li><span class="TLline"><a href="/medgen/863950" ref="tree=MeSH" title="MedGen record for Autosomal dominant mitochondrial myopathy with exercise intolerance">Autosomal dominant mitochondrial myopathy with exercise intolerance</a></span></li><li><span class="TLline"><a href="/medgen/416525" ref="tree=MeSH" title="MedGen record for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome">Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374077" ref="tree=MeSH" title="MedGen record for Lethal infantile mitochondrial myopathy">Lethal infantile mitochondrial myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1565381" ref="tree=MeSH" title="MedGen record for Maternally-inherited progressive external ophthalmoplegia">Maternally-inherited progressive external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/56485" ref="tree=MeSH" title="MedGen record for MELAS syndrome">MELAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56486" ref="tree=MeSH" title="MedGen record for MERRF syndrome">MERRF syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374101" ref="tree=MeSH" title="MedGen record for Mitochondrial complex I deficiency">Mitochondrial complex I deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1814582" ref="tree=MeSH" title="MedGen record for Mitochondrial complex II deficiency, nuclear type 1">Mitochondrial complex II deficiency, nuclear type 1</a></span></li><li><span class="TLline"><a href="/medgen/767513" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA deletion syndrome with progressive myopathy">Mitochondrial DNA deletion syndrome with progressive myopathy</a></span></li><li><span class="TLline"><a href="/medgen/767376" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome 11">Mitochondrial DNA depletion syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/461100" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome, myopathic form">Mitochondrial DNA depletion syndrome, myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/57960" ref="tree=MeSH" title="MedGen record for Mitochondrial encephalomyopathy">Mitochondrial encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/1620960" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome">Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343245" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy-lactic acidosis-deafness syndrome">Mitochondrial myopathy-lactic acidosis-deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167876" ref="tree=MeSH" title="MedGen record for Mitochondrial neurogastrointestinal encephalomyopathy">Mitochondrial neurogastrointestinal encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/370665" ref="tree=MeSH" title="MedGen record for Mitochondrial trifunctional protein deficiency">Mitochondrial trifunctional protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/373888" ref="tree=MeSH" title="MedGen record for Myopathy, lactic acidosis, and sideroblastic anemia">Myopathy, lactic acidosis, and sideroblastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/102439" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia">Progressive external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/934700" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4</a></span></li><li><span class="TLline"><a href="/medgen/375302" ref="tree=MeSH" title="MedGen record for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61528" ref="tree=MeSH" title="MedGen record for Nemaline myopathy">Nemaline myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/154264" ref="tree=MeSH" title="MedGen record for Adult-onset nemaline myopathy">Adult-onset nemaline myopathy</a></span></li><li><span class="TLline"><a href="/medgen/154265" ref="tree=MeSH" title="MedGen record for Childhood-onset nemaline myopathy">Childhood-onset nemaline myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1840525" ref="tree=MeSH" title="MedGen record for Congenital myopathy 4B, autosomal recessive">Congenital myopathy 4B, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/1803914" ref="tree=MeSH" title="MedGen record for Intermediate nemaline myopathy">Intermediate nemaline myopathy</a></span></li><li><span class="TLline"><a href="/medgen/342534" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 2">Nemaline myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/344273" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 5">Nemaline myopathy 5</a></span></li><li><span class="TLline"><a href="/medgen/373095" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 6">Nemaline myopathy 6</a></span></li><li><span class="TLline"><a href="/medgen/343979" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 7">Nemaline myopathy 7</a></span></li><li><span class="TLline"><a href="/medgen/815539" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 8">Nemaline myopathy 8</a></span></li><li><span class="TLline"><a href="/medgen/1805110" ref="tree=MeSH" title="MedGen record for Severe congenital nemaline myopathy">Severe congenital nemaline myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1806265" ref="tree=MeSH" title="MedGen record for Typical nemaline myopathy">Typical nemaline myopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98374" ref="tree=MeSH" title="MedGen record for Severe X-linked myotubular myopathy">Severe X-linked myotubular myopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7749" ref="tree=MeSH" title="MedGen record for Cramp">Cramp</a></span><ul><li><span class="TLline"><a href="/medgen/7801" ref="tree=MeSH" title="MedGen record for Abdominal cramps">Abdominal cramps</a></span><ul><li><span class="TLline"><a href="/medgen/576243" ref="tree=MeSH" title="MedGen record for Stomach cramps">Stomach cramps</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41336" ref="tree=MeSH" title="MedGen record for Cramp in limb">Cramp in limb</a></span><ul><li><span class="TLline"><a href="/medgen/7289" ref="tree=MeSH" title="MedGen record for Leg Cramp">Leg Cramp</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11748" ref="tree=MeSH" title="MedGen record for Tetany">Tetany</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/86881" ref="tree=MeSH" title="MedGen record for Craniomandibular Disorder">Craniomandibular Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/21092" ref="tree=MeSH" title="MedGen record for Temporomandibular joint disorder">Temporomandibular joint disorder</a></span><ul><li><span class="TLline"><a href="/medgen/21093" ref="tree=MeSH" title="MedGen record for Temporomandibular joint dysfunction syndrome">Temporomandibular joint dysfunction syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/685768" ref="tree=MeSH" title="MedGen record for Critical illness myopathy">Critical illness myopathy</a></span></li><li><span class="TLline"><a href="/medgen/8331" ref="tree=MeSH" title="MedGen record for Dermatomyositis">Dermatomyositis</a></span><ul><li><span class="TLline"><a href="/medgen/66356" ref="tree=MeSH" title="MedGen record for Adult dermatomyositis">Adult dermatomyositis</a></span></li><li><span class="TLline"><a href="/medgen/120486" ref="tree=MeSH" title="MedGen record for Childhood type dermatomyositis">Childhood type dermatomyositis</a></span><ul><li><span class="TLline"><a href="/medgen/858244" ref="tree=MeSH" title="MedGen record for Juvenile Dermatomyositis Sine Myositis">Juvenile Dermatomyositis Sine Myositis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/38987" ref="tree=MeSH" title="MedGen record for Eosinophilia myalgia syndrome">Eosinophilia myalgia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18291" ref="tree=MeSH" title="MedGen record for Familial periodic paralysis">Familial periodic paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/327586" ref="tree=MeSH" title="MedGen record for Andersen Tawil syndrome">Andersen Tawil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/68665" ref="tree=MeSH" title="MedGen record for Hyperkalemic periodic paralysis">Hyperkalemic periodic paralysis</a></span></li><li><span class="TLline"><a href="/medgen/116058" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis">Hypokalemic periodic paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/811387" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis, type 1">Hypokalemic periodic paralysis, type 1</a></span></li><li><span class="TLline"><a href="/medgen/413748" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis, type 2">Hypokalemic periodic paralysis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1670241" ref="tree=MeSH" title="MedGen record for Periodic paralysis with later-onset distal motor neuropathy">Periodic paralysis with later-onset distal motor neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1668303" ref="tree=MeSH" title="MedGen record for Periodic paralysis with transient compartment-like syndrome">Periodic paralysis with transient compartment-like syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42018" ref="tree=MeSH" title="MedGen record for Fibromyalgia">Fibromyalgia</a></span><ul><li><span class="TLline"><a href="/medgen/856247" ref="tree=MeSH" title="MedGen record for Juvenile Primary Fibromyalgia Syndrome">Juvenile Primary Fibromyalgia Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/381298" ref="tree=MeSH" title="MedGen record for GNE myopathy">GNE myopathy</a></span></li><li><span class="TLline"><a href="/medgen/148290" ref="tree=MeSH" title="MedGen record for Idiopathic inflammatory myopathy">Idiopathic inflammatory myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1611049" ref="tree=MeSH" title="MedGen record for Inflammatory myopathy">Inflammatory myopathy</a></span></li><li><span class="TLline"><a href="/medgen/116151" ref="tree=MeSH" title="MedGen record for Isaac syndrome">Isaac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/305587" ref="tree=MeSH" title="MedGen record for Medial tibial stress syndrome">Medial tibial stress syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452364" ref="tree=MeSH" title="MedGen record for Metabolic myopathy">Metabolic myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/5340" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type II">Glycogen storage disease, type II</a></span><ul><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/923868" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, infantile onset">Glycogen storage disease due to acid maltase deficiency, infantile onset</a></span></li><li><span class="TLline"><a href="/medgen/575206" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, late-onset">Glycogen storage disease due to acid maltase deficiency, late-onset</a></span></li><li><span class="TLline"><a href="/medgen/148252" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type II, infantile">Glycogen storage disease type II, infantile</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/342573" ref="tree=MeSH" title="MedGen record for Hereditary myopathy with lactic acidosis due to ISCU deficiency">Hereditary myopathy with lactic acidosis due to ISCU deficiency</a></span></li><li><span class="TLline"><a href="/medgen/344529" ref="tree=MeSH" title="MedGen record for Metabolic myopathy due to lactate transporter defect">Metabolic myopathy due to lactate transporter defect</a></span></li><li><span class="TLline"><a href="/medgen/811508" ref="tree=MeSH" title="MedGen record for Muscle AMP deaminase deficiency">Muscle AMP deaminase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3227" ref="tree=MeSH" title="MedGen record for Muscle contracture">Muscle contracture</a></span><ul><li><span class="TLline"><a href="/medgen/41672" ref="tree=MeSH" title="MedGen record for Contracture of palmar fascia">Contracture of palmar fascia</a></span><ul><li><span class="TLline"><a href="/medgen/338840" ref="tree=MeSH" title="MedGen record for DUPUYTREN CONTRACTURE 1">DUPUYTREN CONTRACTURE 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9257" ref="tree=MeSH" title="MedGen record for Contractures, Hip">Contractures, Hip</a></span></li><li><span class="TLline"><a href="/medgen/56385" ref="tree=MeSH" title="MedGen record for Plantar fibromatosis">Plantar fibromatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57735" ref="tree=MeSH" title="MedGen record for Muscle weakness">Muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/867169" ref="tree=MeSH" title="MedGen record for Abdominal wall muscle weakness">Abdominal wall muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/533911" ref="tree=MeSH" title="MedGen record for Beevor sign">Beevor sign</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1624738" ref="tree=MeSH" title="MedGen record for Ankle weakness">Ankle weakness</a></span></li><li><span class="TLline"><a href="/medgen/334472" ref="tree=MeSH" title="MedGen record for Axial muscle weakness">Axial muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/1622474" ref="tree=MeSH" title="MedGen record for Cold paresis">Cold paresis</a></span></li><li><span class="TLline"><a href="/medgen/101067" ref="tree=MeSH" title="MedGen record for Diaphragmatic weakness">Diaphragmatic weakness</a></span><ul><li><span class="TLline"><a href="/medgen/1632032" ref="tree=MeSH" title="MedGen record for Diaphragmatic paralysis">Diaphragmatic paralysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140883" ref="tree=MeSH" title="MedGen record for Distal muscle weakness">Distal muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/371289" ref="tree=MeSH" title="MedGen record for First dorsal interossei muscle weakness">First dorsal interossei muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/871100" ref="tree=MeSH" title="MedGen record for Late-onset distal muscle weakness">Late-onset distal muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/871217" ref="tree=MeSH" title="MedGen record for Paresis of extensor muscles of the big toe">Paresis of extensor muscles of the big toe</a></span></li><li><span class="TLline"><a href="/medgen/324556" ref="tree=MeSH" title="MedGen record for Progressive distal muscle weakness">Progressive distal muscle weakness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/217001" ref="tree=MeSH" title="MedGen record for Eye Muscle Weakness">Eye Muscle Weakness</a></span></li><li><span class="TLline"><a href="/medgen/155433" ref="tree=MeSH" title="MedGen record for Generalized muscle weakness">Generalized muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/324478" ref="tree=MeSH" title="MedGen record for Lower limb muscle weakness">Lower limb muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/324514" ref="tree=MeSH" title="MedGen record for Distal lower limb muscle weakness">Distal lower limb muscle weakness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10131" ref="tree=MeSH" title="MedGen record for Muscle flaccidity">Muscle flaccidity</a></span><ul><li><span class="TLline"><a href="/medgen/871107" ref="tree=MeSH" title="MedGen record for Episodic flaccid weakness">Episodic flaccid weakness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/305594" ref="tree=MeSH" title="MedGen record for Muscle Weakness Left-Sided">Muscle Weakness Left-Sided</a></span></li><li><span class="TLline"><a href="/medgen/305677" ref="tree=MeSH" title="MedGen record for Muscle Weakness Right-Sided">Muscle Weakness Right-Sided</a></span></li><li><span class="TLline"><a href="/medgen/66808" ref="tree=MeSH" title="MedGen record for Neck muscle weakness">Neck muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/334801" ref="tree=MeSH" title="MedGen record for Neck flexor weakness">Neck flexor weakness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/283929" ref="tree=MeSH" title="MedGen record for Pelvic Floor Muscle Weakness">Pelvic Floor Muscle Weakness</a></span></li><li><span class="TLline"><a href="/medgen/322809" ref="tree=MeSH" title="MedGen record for Poor head control">Poor head control</a></span></li><li><span class="TLline"><a href="/medgen/68704" ref="tree=MeSH" title="MedGen record for Progressive muscle weakness">Progressive muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/113169" ref="tree=MeSH" title="MedGen record for Proximal muscle weakness">Proximal muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/65865" ref="tree=MeSH" title="MedGen record for Gowers sign">Gowers sign</a></span></li><li><span class="TLline"><a href="/medgen/871110" ref="tree=MeSH" title="MedGen record for Late-onset proximal muscle weakness">Late-onset proximal muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/322841" ref="tree=MeSH" title="MedGen record for Progressive proximal muscle weakness">Progressive proximal muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/356423" ref="tree=MeSH" title="MedGen record for Proximal muscle weakness in lower limbs">Proximal muscle weakness in lower limbs</a></span></li><li><span class="TLline"><a href="/medgen/356424" ref="tree=MeSH" title="MedGen record for Proximal muscle weakness in upper limbs">Proximal muscle weakness in upper limbs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/331234" ref="tree=MeSH" title="MedGen record for Scapuloperoneal weakness">Scapuloperoneal weakness</a></span></li><li><span class="TLline"><a href="/medgen/116123" ref="tree=MeSH" title="MedGen record for Truncal muscle weakness">Truncal muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/305607" ref="tree=MeSH" title="MedGen record for Upper limb muscle weakness">Upper limb muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/533950" ref="tree=MeSH" title="MedGen record for Wrist drop">Wrist drop</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98103" ref="tree=MeSH" title="MedGen record for Weakness of facial musculature">Weakness of facial musculature</a></span><ul><li><span class="TLline"><a href="/medgen/87660" ref="tree=MeSH" title="MedGen record for Facial palsy">Facial palsy</a></span></li><li><span class="TLline"><a href="/medgen/5101" ref="tree=MeSH" title="MedGen record for Facial paralysis">Facial paralysis</a></span></li><li><span class="TLline"><a href="/medgen/1052779" ref="tree=MeSH" title="MedGen record for Inability to protrude lips">Inability to protrude lips</a></span></li><li><span class="TLline"><a href="/medgen/1053268" ref="tree=MeSH" title="MedGen record for Inability to puff cheeks">Inability to puff cheeks</a></span></li><li><span class="TLline"><a href="/medgen/1863663" ref="tree=MeSH" title="MedGen record for Transverse smile">Transverse smile</a></span></li><li><span class="TLline"><a href="/medgen/374115" ref="tree=MeSH" title="MedGen record for Weakness of orbicularis oculi muscle">Weakness of orbicularis oculi muscle</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/6472" ref="tree=MeSH" title="MedGen record for Musculoskeletal pain">Musculoskeletal pain</a></span><ul><li><span class="TLline"><a href="/medgen/68541" ref="tree=MeSH" title="MedGen record for Myalgia">Myalgia</a></span><ul><li><span class="TLline"><a href="/medgen/1749720" ref="tree=MeSH" title="MedGen record for COVID-19-Associated Myalgia">COVID-19-Associated Myalgia</a></span></li><li><span class="TLline"><a href="/medgen/340638" ref="tree=MeSH" title="MedGen record for Exercise-induced myalgia">Exercise-induced myalgia</a></span></li><li><span class="TLline"><a href="/medgen/1671054" ref="tree=MeSH" title="MedGen record for Gastrocnemius myalgia">Gastrocnemius myalgia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452320" ref="tree=MeSH" title="MedGen record for Pelvic girdle pain">Pelvic girdle pain</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5130" ref="tree=MeSH" title="MedGen record for Myalgic encephalomeyelitis/chronic fatigue syndrome">Myalgic encephalomeyelitis/chronic fatigue syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6496" ref="tree=MeSH" title="MedGen record for Myofascial pain syndrome">Myofascial pain syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395532" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy">Myofibrillar myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1799560" ref="tree=MeSH" title="MedGen record for Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome">Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/330449" ref="tree=MeSH" title="MedGen record for Desmin-related myofibrillar myopathy">Desmin-related myofibrillar myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1798876" ref="tree=MeSH" title="MedGen record for Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome">Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/324735" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 2">Myofibrillar myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/811509" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 3">Myofibrillar myopathy 3</a></span></li><li><span class="TLline"><a href="/medgen/1648314" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 4">Myofibrillar myopathy 4</a></span></li><li><span class="TLline"><a href="/medgen/372186" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 5">Myofibrillar myopathy 5</a></span></li><li><span class="TLline"><a href="/medgen/414119" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 6">Myofibrillar myopathy 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/76477" ref="tree=MeSH" title="MedGen record for Myomatous neoplasm">Myomatous neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/10236" ref="tree=MeSH" title="MedGen record for Benign muscle neoplasm">Benign muscle neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/234035" ref="tree=MeSH" title="MedGen record for Benign Skeletal Muscle Neoplasm">Benign Skeletal Muscle Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/231944" ref="tree=MeSH" title="MedGen record for Benign smooth muscle neoplasm">Benign smooth muscle neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/90788" ref="tree=MeSH" title="MedGen record for Infiltrating lipoma">Infiltrating lipoma</a></span></li><li><span class="TLline"><a href="/medgen/232667" ref="tree=MeSH" title="MedGen record for Intramuscular Myxoma">Intramuscular Myxoma</a></span></li><li><span class="TLline"><a href="/medgen/48445" ref="tree=MeSH" title="MedGen record for Rhabdomyoma">Rhabdomyoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/151927" ref="tree=MeSH" title="MedGen record for Muscle cancer">Muscle cancer</a></span><ul><li><span class="TLline"><a href="/medgen/233669" ref="tree=MeSH" title="MedGen record for Skeletal muscle cancer">Skeletal muscle cancer</a></span></li><li><span class="TLline"><a href="/medgen/233670" ref="tree=MeSH" title="MedGen record for Smooth muscle cancer">Smooth muscle cancer</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/236817" ref="tree=MeSH" title="MedGen record for Skeletal muscle neoplasm">Skeletal muscle neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/104911" ref="tree=MeSH" title="MedGen record for Smooth muscle tumor">Smooth muscle tumor</a></span><ul><li><span class="TLline"><a href="/medgen/1791312" ref="tree=MeSH" title="MedGen record for EBV-Associated Smooth Muscle Tumor">EBV-Associated Smooth Muscle Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1793823" ref="tree=MeSH" title="MedGen record for Female Reproductive System Smooth Muscle Tumor of Uncertain Malignant Potential">Female Reproductive System Smooth Muscle Tumor of Uncertain Malignant Potential</a></span></li><li><span class="TLline"><a href="/medgen/1792082" ref="tree=MeSH" title="MedGen record for Ovarian Smooth Muscle Neoplasm">Ovarian Smooth Muscle Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/87532" ref="tree=MeSH" title="MedGen record for Skin Smooth Muscle Neoplasm">Skin Smooth Muscle Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/311427" ref="tree=MeSH" title="MedGen record for Uterine Corpus Smooth Muscle Neoplasm">Uterine Corpus Smooth Muscle Neoplasm</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1712940" ref="tree=MeSH" title="MedGen record for Myopathy Secondary to Fatty Acid Oxidation Disorder">Myopathy Secondary to Fatty Acid Oxidation Disorder</a></span></li><li><span class="TLline"><a href="/medgen/1711004" ref="tree=MeSH" title="MedGen record for Myopathy Secondary to Glycogen Storage Disorder">Myopathy Secondary to Glycogen Storage Disorder</a></span></li><li><span class="TLline"><a href="/medgen/44564" ref="tree=MeSH" title="MedGen record for Myositis disease">Myositis disease</a></span><ul><li><span class="TLline"><a href="/medgen/235204" ref="tree=MeSH" title="MedGen record for Idiopathic granulomatous myositis">Idiopathic granulomatous myositis</a></span></li><li><span class="TLline"><a href="/medgen/68659" ref="tree=MeSH" title="MedGen record for Inclusion body myositis">Inclusion body myositis</a></span></li><li><span class="TLline"><a href="/medgen/102358" ref="tree=MeSH" title="MedGen record for Infectious myositis">Infectious myositis</a></span></li><li><span class="TLline"><a href="/medgen/57855" ref="tree=MeSH" title="MedGen record for Myositis fibrosa">Myositis fibrosa</a></span></li><li><span class="TLline"><a href="/medgen/6503" ref="tree=MeSH" title="MedGen record for Myositis ossificans">Myositis ossificans</a></span></li><li><span class="TLline"><a href="/medgen/389999" ref="tree=MeSH" title="MedGen record for Orbital myositis">Orbital myositis</a></span></li><li><span class="TLline"><a href="/medgen/39086" ref="tree=MeSH" title="MedGen record for Polymyositis">Polymyositis</a></span><ul><li><span class="TLline"><a href="/medgen/819736" ref="tree=MeSH" title="MedGen record for Juvenile polymyositis">Juvenile polymyositis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52862" ref="tree=MeSH" title="MedGen record for Pyomyositis">Pyomyositis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/107510" ref="tree=MeSH" title="MedGen record for Myotonic syndrome">Myotonic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/10158" ref="tree=MeSH" title="MedGen record for Batten-Turner congenital myopathy">Batten-Turner congenital myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/422446" ref="tree=MeSH" title="MedGen record for Congenital myotonia, autosomal dominant form">Congenital myotonia, autosomal dominant form</a></span></li><li><span class="TLline"><a href="/medgen/155852" ref="tree=MeSH" title="MedGen record for Congenital myotonia, autosomal recessive form">Congenital myotonia, autosomal recessive form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/741982" ref="tree=MeSH" title="MedGen record for Non dystrophic myotonia">Non dystrophic myotonia</a></span><ul><li><span class="TLline"><a href="/medgen/78678" ref="tree=MeSH" title="MedGen record for Familial normokalemic periodic paralysis">Familial normokalemic periodic paralysis</a></span></li><li><span class="TLline"><a href="/medgen/460867" ref="tree=MeSH" title="MedGen record for Laryngospasm, severe neonatal episodic">Laryngospasm, severe neonatal episodic</a></span></li><li><span class="TLline"><a href="/medgen/113142" ref="tree=MeSH" title="MedGen record for Paramyotonia congenita of Von Eulenburg">Paramyotonia congenita of Von Eulenburg</a></span></li><li><span class="TLline"><a href="/medgen/444151" ref="tree=MeSH" title="MedGen record for Potassium-aggravated myotonia">Potassium-aggravated myotonia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/870175" ref="tree=MeSH" title="MedGen record for Necrotizing myopathy">Necrotizing myopathy</a></span></li><li><span class="TLline"><a href="/medgen/19393" ref="tree=MeSH" title="MedGen record for Polymyalgia rheumatica">Polymyalgia rheumatica</a></span></li><li><span class="TLline"><a href="/medgen/19775" ref="tree=MeSH" title="MedGen record for Rhabdomyolysis">Rhabdomyolysis</a></span><ul><li><span class="TLline"><a href="/medgen/813636" ref="tree=MeSH" title="MedGen record for Acute rhabdomyolysis">Acute rhabdomyolysis</a></span></li><li><span class="TLline"><a href="/medgen/868941" ref="tree=MeSH" title="MedGen record for Alcohol-induced rhabdomyolysis">Alcohol-induced rhabdomyolysis</a></span></li><li><span class="TLline"><a href="/medgen/868942" ref="tree=MeSH" title="MedGen record for Anesthetic-induced rhabdomylosis">Anesthetic-induced rhabdomylosis</a></span></li><li><span class="TLline"><a href="/medgen/867168" ref="tree=MeSH" title="MedGen record for Exercise-induced rhabdomyolysis">Exercise-induced rhabdomyolysis</a></span></li><li><span class="TLline"><a href="/medgen/44557" ref="tree=MeSH" title="MedGen record for Hereditary myoglobinuria">Hereditary myoglobinuria</a></span><ul><li><span class="TLline"><a href="/medgen/337172" ref="tree=MeSH" title="MedGen record for Exercise-induced myoglobinuria">Exercise-induced myoglobinuria</a></span></li><li><span class="TLline"><a href="/medgen/333201" ref="tree=MeSH" title="MedGen record for Myoglobinuria, recurrent">Myoglobinuria, recurrent</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871126" ref="tree=MeSH" title="MedGen record for Viral infection-induced rhabdomyolysis">Viral infection-induced rhabdomyolysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7752" ref="tree=MeSH" title="MedGen record for Rigidity">Rigidity</a></span><ul><li><span class="TLline"><a href="/medgen/57469" ref="tree=MeSH" title="MedGen record for Cogwheel rigidity">Cogwheel rigidity</a></span></li><li><span class="TLline"><a href="/medgen/41430" ref="tree=MeSH" title="MedGen record for Decerebrate rigidity">Decerebrate rigidity</a></span></li><li><span class="TLline"><a href="/medgen/66661" ref="tree=MeSH" title="MedGen record for Decorticate rigidity">Decorticate rigidity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/735900" ref="tree=MeSH" title="MedGen record for Skeletal myopathy">Skeletal myopathy</a></span></li><li><span class="TLline"><a href="/medgen/7753" ref="tree=MeSH" title="MedGen record for Spasticity">Spasticity</a></span><ul><li><span class="TLline"><a href="/medgen/937224" ref="tree=MeSH" title="MedGen record for Appendicular spasticity">Appendicular spasticity</a></span><ul><li><span class="TLline"><a href="/medgen/1643622" ref="tree=MeSH" title="MedGen record for Clasp-knife sign">Clasp-knife sign</a></span></li><li><span class="TLline"><a href="/medgen/220865" ref="tree=MeSH" title="MedGen record for Lower limb spasticity">Lower limb spasticity</a></span></li><li><span class="TLline"><a href="/medgen/44181" ref="tree=MeSH" title="MedGen record for Spastic diplegia">Spastic diplegia</a></span></li><li><span class="TLline"><a href="/medgen/57593" ref="tree=MeSH" title="MedGen record for Spastic monoplegia">Spastic monoplegia</a></span></li><li><span class="TLline"><a href="/medgen/658719" ref="tree=MeSH" title="MedGen record for Spastic tetraparesis">Spastic tetraparesis</a></span></li><li><span class="TLline"><a href="/medgen/220882" ref="tree=MeSH" title="MedGen record for Upper limb spasticity">Upper limb spasticity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56246" ref="tree=MeSH" title="MedGen record for Opisthotonus">Opisthotonus</a></span></li><li><span class="TLline"><a href="/medgen/347171" ref="tree=MeSH" title="MedGen record for Progressive spasticity">Progressive spasticity</a></span><ul><li><span class="TLline"><a href="/medgen/347944" ref="tree=MeSH" title="MedGen record for Progressive spastic quadriplegia">Progressive spastic quadriplegia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344036" ref="tree=MeSH" title="MedGen record for Spasticity of facial muscles">Spasticity of facial muscles</a></span></li><li><span class="TLline"><a href="/medgen/342872" ref="tree=MeSH" title="MedGen record for Spasticity of pharyngeal muscles">Spasticity of pharyngeal muscles</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7755" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy">Spinal muscular atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/870465" ref="tree=MeSH" title="MedGen record for Acute infantile spinal muscular atrophy">Acute infantile spinal muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/333282" ref="tree=MeSH" title="MedGen record for Kennedy disease">Kennedy disease</a></span></li><li><span class="TLline"><a href="/medgen/101816" ref="tree=MeSH" title="MedGen record for Kugelberg-Welander disease">Kugelberg-Welander disease</a></span></li><li><span class="TLline"><a href="/medgen/906831" ref="tree=MeSH" title="MedGen record for Progressive spinal muscular atrophy">Progressive spinal muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/21913" ref="tree=MeSH" title="MedGen record for Proximal Hereditary Motor Neuropathy Type I">Proximal Hereditary Motor Neuropathy Type I</a></span></li><li><span class="TLline"><a href="/medgen/870510" ref="tree=MeSH" title="MedGen record for Proximal spinal muscular atrophy">Proximal spinal muscular atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/95975" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy, type II">Spinal muscular atrophy, type II</a></span></li><li><span class="TLline"><a href="/medgen/325364" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy, type IV">Spinal muscular atrophy, type IV</a></span></li><li><span class="TLline"><a href="/medgen/1845578" ref="tree=MeSH" title="MedGen record for Werdnig-Hoffmann disease">Werdnig-Hoffmann disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/148615" ref="tree=MeSH" title="MedGen record for Spinal Muscular Atrophy of Childhood">Spinal Muscular Atrophy of Childhood</a></span></li><li><span class="TLline"><a href="/medgen/355801" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy, segmental">Spinal muscular atrophy, segmental</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452365" ref="tree=MeSH" title="MedGen record for Steroid-induced myopathy">Steroid-induced myopathy</a></span></li><li><span class="TLline"><a href="/medgen/291538" ref="tree=MeSH" title="MedGen record for Tendinopathies">Tendinopathies</a></span><ul><li><span class="TLline"><a href="/medgen/906365" ref="tree=MeSH" title="MedGen record for Elbow Tendinopathies">Elbow Tendinopathies</a></span><ul><li><span class="TLline"><a href="/medgen/11736" ref="tree=MeSH" title="MedGen record for Lateral epicondylitis">Lateral epicondylitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66909" ref="tree=MeSH" title="MedGen record for Enthesopathy">Enthesopathy</a></span></li><li><span class="TLline"><a href="/medgen/57854" ref="tree=MeSH" title="MedGen record for Stenosing tenosynovitis">Stenosing tenosynovitis</a></span><ul><li><span class="TLline"><a href="/medgen/101771" ref="tree=MeSH" title="MedGen record for De Quervain disease">De Quervain disease</a></span></li><li><span class="TLline"><a href="/medgen/57634" ref="tree=MeSH" title="MedGen record for Digital flexor tenosynovitis">Digital flexor tenosynovitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232927" ref="tree=MeSH" title="MedGen record for Tenosynovial giant cell tumor">Tenosynovial giant cell tumor</a></span><ul><li><span class="TLline"><a href="/medgen/226849" ref="tree=MeSH" title="MedGen record for Malignant tenosynovial giant cell tumor">Malignant tenosynovial giant cell tumor</a></span></li><li><span class="TLline"><a href="/medgen/11691" ref="tree=MeSH" title="MedGen record for Tenosynovial giant cell tumor, diffuse type">Tenosynovial giant cell tumor, diffuse type</a></span></li><li><span class="TLline"><a href="/medgen/154413" ref="tree=MeSH" title="MedGen record for Tenosynovial giant cell tumor, localized type">Tenosynovial giant cell tumor, localized type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/52670" ref="tree=MeSH" title="MedGen record for Tenosynovitis">Tenosynovitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/509650" ref="tree=MeSH" title="MedGen record for Toxic myopathy">Toxic myopathy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_6641"><div><strong>Glycogen storage disease type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6641</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0017922</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. GSD IIIb, with liver involvement only, comprises about 15% of all affected individuals. In infancy and early childhood, liver involvement presents as hepatomegaly and failure to thrive, with fasting ketotic hypoglycemia, hyperlipidemia, and elevated hepatic transaminases. In adolescence and adulthood, liver disease becomes less prominent. Most individuals develop cardiac involvement with cardiac hypertrophy and/or cardiomyopathy. Skeletal myopathy manifesting as weakness may be evident in childhood and slowly progresses, typically becoming prominent in the third to fourth decade. The overall prognosis is favorable but cannot be predicted on an individual basis. Long-term complications such as muscular and cardiac symptoms as well as liver fibrosis/cirrhosis and hepatocellular carcinoma may have a severe impact on prognosis and quality of life. To date, it is unknown if long-term complications can be alleviated and/or avoided by dietary interventions.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6641">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_6708"><div><strong>Pigmentary pallidal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6708</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6708">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_6222"><div><strong>Marinesco-Sjögren syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6222</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024814</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults have severe disabilities, life span in MSS appears to be near normal.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6222">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_9959"><div><strong>Multiple endocrine neoplasia type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9959</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0025269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features of MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9959">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_10158"><div><strong>Batten-Turner congenital myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10158">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_56485"><div><strong>MELAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56485</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of affected individuals develop signs and symptoms of MELAS between ages two and 40 years. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures and/or dementia, muscle weakness and exercise intolerance, normal early psychomotor development, recurrent headaches, recurrent vomiting, hearing impairment, peripheral neuropathy, learning disability, and short stature. During the stroke-like episodes neuroimaging shows increased T2-weighted signal areas that do not correspond to the classic vascular distribution (hence the term "stroke-like"). Lactic acidemia is very common and muscle biopsies typically show ragged red fibers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56485">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_56486"><div><strong>MERRF syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56486</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, exercise intolerance, and dementia. Onset can occur from childhood to adulthood, occurring after normal early development. Common findings are ptosis, hearing loss, short stature, optic atrophy, cardiomyopathy, cardiac dysrhythmias such as Wolff-Parkinson-White syndrome, and peripheral neuropathy. Pigmentary retinopathy, optic neuropathy, diabetes mellitus, and lipomatosis have been observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56486">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_65089"><div><strong>Childhood hypophosphatasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65089</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65089">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82771"><div><strong>Hereditary xanthinuria type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82771</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Xanthinuria, which was first described by Dent and Philpot (1954), is characterized by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Two clinically similar but distinct forms of xanthinuria are recognized. In type I (XAN1) there is an isolated deficiency of xanthine dehydrogenase, and in type II (XAN2; 603592) there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase (603592). Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995). Xanthinuria also occurs in molybdenum cofactor deficiency (252150). Type II xanthinuria is caused by mutation in the MOCOS gene (613274), which encodes the enzyme that sulfurates the molybdenum cofactor for XDH and AOX1 (602841).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82771">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120613"><div><strong>Glycogen storage disease type X</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.\n\nIn some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120613">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82780"><div><strong>Triglyceride storage disease with ichthyosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82780</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive nonlysosomal inborn error of neutral lipid metabolism. Patients present with a nonbullous erythrodermic form of ichthyosis (NCIE; see 242300) with variable involvement of other organs, such as liver, central nervous system, eyes, and ears. Intracellular triacylglycerol droplets are present in most tissues, and diagnosis can be confirmed by a simple blood smear, in which the characteristic lipid droplets are observed in the cytoplasm of granulocytes (summary by Lefevre et al., 2001). Another form of neutral lipid storage disease without ichthyosis but with myopathy (NLSDM; 610717) is caused by mutation in the PNPLA2 gene (609059).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82780">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82803"><div><strong>Inborn glycerol kinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82803</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82803">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_124338"><div><strong>Acetyl-CoA: carboxylase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124338</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acetyl-CoA carboxylase-alpha deficiency (ACACAD) is an autosomal recessive disorder characterized by hypotonia and global developmental delay (summary by Shafieipour et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124338">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82895"><div><strong>HNSHA due to aldolase A deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82895</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0272066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82895">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90998"><div><strong>Deficiency of butyryl-CoA dehydrogenase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90998</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) identified through newborn screening programs have remained well, and asymptomatic relatives who meet diagnostic criteria are reported. Thus, SCADD is now viewed as a biochemical phenotype rather than a disease. A broad range of clinical findings was originally reported in those with confirmed SCADD, including severe dysmorphic facial features, feeding difficulties / failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy. However, individuals with no symptoms were also reported. In a large series of affected individuals detected on metabolic evaluation for developmental delay, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures; and 30% had hypotonia without seizures. In contrast, the majority of infants with SCADD have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. As with other fatty acid oxidation deficiencies, characteristic biochemical findings of SCADD may be absent except during times of physiologic stress such as fasting and illness. A diagnosis of SCADD based on clinical findings should not preclude additional testing to look for other causes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90998">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90999"><div><strong>Renal carnitine transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90999</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary carnitine deficiency (PCD) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. If untreated, it encompasses a broad clinical spectrum including: (1) metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis; (2) childhood myopathy involving heart and skeletal muscle with onset between age two and four years; (3) pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia; (4) fatigability in adulthood; and (5) absence of symptoms. The latter two categories often include mothers diagnosed with PCD after newborn screening has identified low carnitine levels in their infants.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90999">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140765"><div><strong>McLeod neuroacanthocytosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140765</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0398568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS manifestations are a neurodegenerative basal ganglia disease including movement disorders, cognitive alterations, and psychiatric symptoms. Neuromuscular manifestations include a (mostly subclinical) sensorimotor axonopathy and muscle weakness or atrophy of different degrees. Cardiac manifestations include dilated cardiomyopathy, atrial fibrillation, and tachyarrhythmia. Hematologically, MLS is defined as a specific blood group phenotype (named after the first proband, Hugh McLeod) that results from absent expression of the Kx erythrocyte antigen and weakened expression of Kell blood group antigens. The hematologic manifestations are red blood cell acanthocytosis and compensated hemolysis. Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. Females heterozygous for XK pathogenic variants have mosaicism for the Kell and Kx blood group antigens. Although they usually lack CNS and neuromuscular manifestations, some heterozygous females may develop clinical manifestations including chorea or late-onset cognitive decline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140765">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_182973"><div><strong>Leber optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0917796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHON in the seventh and eighth decades of life. Males are four to five times more likely to be affected than females, but neither sex nor mutational status significantly influences the timing and severity of the initial visual loss. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. Some individuals with LHON, usually women, may also develop a multiple sclerosis-like illness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182973">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_231285"><div><strong>NARP syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231285</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1328349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial DNA-associated Leigh syndrome spectrum (mtDNA-LSS) is part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation, which includes the overlapping phenotypes mtDNA-associated Leigh syndrome and mtDNA-associated Leigh-like syndrome. Mitochondrial DNA-LSS is characterized by onset of manifestations typically between ages three and 12 months, often following an intercurrent illness (usually viral) or metabolic challenge (vaccinations, surgery, prolonged fasting). Decompensation (often with elevated lactate levels in blood and/or cerebrospinal fluid) is typically associated with developmental delay and/or regression. Neurologic features include hypotonia, spasticity, seizures, movement disorders, cerebellar ataxia, and peripheral neuropathy. Brain stem dysfunction may manifest with respiratory symptoms, swallowing difficulties, ophthalmoparesis, and abnormalities in thermoregulation. Extraneurologic manifestations may include poor weight gain, cardiomyopathy, and conduction defects. Up to 50% of individuals die by age three years, most often from respiratory or cardiac failure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/231285">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354526"><div><strong>Familial partial lipodystrophy, Dunnigan type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1720860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371846"><div><strong>Myopathy with storage of glycoproteins and Glycosaminoglycans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371846</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371846">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_331805"><div><strong>Bethlem myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331805</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. The age at onset is highly variable, ranging from infancy to adulthood. Disease progression is slow and ambulation is usually retained into adulthood (summary by Butterfield et al., 2013). Genetic Heterogeneity of Bethlem Myopathy See Bethlem myopathy-1B (BTHLM1B; 620725), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; Bethlem myopathy-1C (620726), caused by mutation the COL6A3 gene (120250) on chromosome 2q37; and Bethlem myopathy-2 (BTHLM2; 616471), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331805">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322468"><div><strong>Muscular dystrophy, Barnes type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322468</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322468">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373095"><div><strong>Nemaline myopathy 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373095</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836472</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373095">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322993"><div><strong>Autosomal dominant limb-girdle muscular dystrophy type 1G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322993</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836765</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant limb-girdle muscular dystrophy-3 (LGMDD3) is characterized by slowly progressive proximal muscle weakness affecting the upper and lower limbs. Onset is usually in adulthood, but can occur during the teenage years. Affected individuals may also develop cataracts before age 50 (summary by Vieira et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322993">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374077"><div><strong>Lethal infantile mitochondrial myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374077</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare mitochondrial oxidative phosphorylation disorder characterised by progressive generalised hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374077">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374264"><div><strong>X-linked myopathy with excessive autophagy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374264</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015). Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, is a distinct disorder with similar pathologic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374264">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374868"><div><strong>Myosin storage myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374868</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant myosin storage congenital myopathy-7A (CMYO7A) is a skeletal muscle disorder with wide phenotypic variability. The age at symptom onset can range from early childhood to late adulthood. Affected individuals have proximal muscle weakness affecting the upper and lower limbs and distal muscle weakness of the lower limbs, resulting in gait difficulties and scapular winging (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased reflexes. The severity is also variable: some patients develop respiratory insufficiency, joint contractures, and scoliosis in the first decades, whereas others are clinically unaffected, but show subtle signs of the disorder on examination. Serum creatine kinase may be normal or elevated. The disease is usually slowly progressive and most patients remain ambulatory. Skeletal muscle biopsy can show different abnormalities, including hyaline bodies, type 1 fiber predominance, congenital fiber-type disproportion (CFTD), and nonspecific myopathic changes with myofibrillar disarray. Intrafamilial variability is common (Dye et al., 2006; Pegoraro et al., 2007; review by Tajsharghi and Oldfors, 2013). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374868">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375302"><div><strong>Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375302</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375302">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337026"><div><strong>Fingerprint body myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337026</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337123"><div><strong>Infantile-onset X-linked spinal muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337123</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is significantly shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337123">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335354"><div><strong>X-linked myotubular myopathy-abnormal genitalia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335354</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846169</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare chromosomal anomaly, partial deletion of the long arm of chromosome X, with characteristics of a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with a severe form of congenital myopathy and abnormal male genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335354">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335706"><div><strong>Distal myopathy with anterior tibial onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335706</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1847532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal myopathy with anterior tibial onset (DMAT) is an autosomal recessive muscle disorder with onset of anterior tibial weakness in the second or third decade of life. The disease course progresses rapidly to include lower and upper proximal muscles, necessitating use of a wheelchair 11 to 22 years from onset (Illa et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337919"><div><strong>Lethal congenital glycogen storage disease of heart</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337919</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337919">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342573"><div><strong>Hereditary myopathy with lactic acidosis due to ISCU deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342573</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype (summary by Sanaker et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342573">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339913"><div><strong>Neutral lipid storage myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339913</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neutral lipid storage disease with myopathy (NLSDM) is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011). Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS; 275630) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339913">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381340"><div><strong>Myopathy, proximal, and ophthalmoplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381340</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-6 with ophthalmoplegia (CMYO6) is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. CMYO6 can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by Lossos et al., 2005 and Tajsharghi et al., 2014). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381340">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344273"><div><strong>Nemaline myopathy 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344273</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive severe infantile nemaline myopathy-5A (NEM5A) is a skeletal muscle disorder characterized by symptom onset soon after birth or in early infancy. Affected infants show axial hypotonia, stiffness, rigid spine with progressive kyphosis, pectus deformities, and contractures or limited movement of the large joints. Some patients show transient tremors. There is muscle atrophy and poor gross motor development. Respiratory insufficiency develops in the first years of life, often leading to death. Muscle biopsy shows nemaline rods (Johnston et al., 2000; Geraud et al., 2021). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344273">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340938"><div><strong>Stromme syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340938</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental delay and/or intellectual disability, structural brain anomalies, and ocular, genitourinary, and cardiac anomalies. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay. Apple peel intestinal atresia, a rare form of small bowel atresia involving the proximal jejunum near the ligament of Treitz, occurs in some individuals. Intestinal atresia in individuals with Strømme syndrome can involve the duodenum, jejunum, or multiple segments.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340938">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340962"><div><strong>Vici syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340962</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347272"><div><strong>Gamma-glutamylcysteine synthetase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347272</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1856603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gamma-glutamylcysteine synthetase deficiency is 1 of 4 diseases involving enzymes in the gamma-glutamyl cycle (Meister, 1974). The other 3 disorders are glutathione synthetase deficiency (231900), 5-oxoprolinuria, which is a severe or generalized form of glutathione synthetase deficiency (266130), and gamma-glutamyl transpeptidase deficiency (231950). All except gamma-glutamyl transpeptidase deficiency are accompanied by hemolytic anemia (Larsson and Anderson, 2001). Some patients with CNSHA7 may develop progressive neurologic abnormalities, including ataxic gait, speech impairment, and spinocerebellar degeneration (Konrad et al., 1972). The hemolytic anemia caused by mutation in the GCLC gene is here designated congenital nonspherocytic hemolytic anemia-7 (CNSHA7).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347272">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341859"><div><strong>Heart-hand syndrome, Slovenian type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341859</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341859">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395228"><div><strong>Sengers syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395228</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395228">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347852"><div><strong>Carnitine deficiency, myopathic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347852</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859318</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347852">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395232"><div><strong>Cardiomyopathy associated with myopathy and sudden death</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349893"><div><strong>Triosephosphate isomerase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349893</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860808</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Triosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350028"><div><strong>Stormorken syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350028</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1861451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350526"><div><strong>Hypertrophic cardiomyopathy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1861862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.\n\nNonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nHypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. </div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350613"><div><strong>Diaphyseal medullary stenosis-bone malignancy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1862177</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In 2 families, affected individuals also showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered a tumor predisposition syndrome (summary by Camacho-Vanegas et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350613">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354730"><div><strong>Axial osteomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354730</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1862372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354730">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400481"><div><strong>Congenital myasthenic syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400481</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400481">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355943"><div><strong>Megaconial type congenital muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355943</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHKB-related muscular dystrophy (CHKB-MD), reported in 47 individuals to date, comprises congenital muscular dystrophy (CMD) (44 individuals) and adolescent-onset limb-girdle muscular dystrophy (LGMD) (3 individuals). CMD: All affected children have developmental delay and speech delay; gross motor milestones are delayed with subsequent loss of ambulation over time. Most have intellectual disability of varying severity; some have no speech. Autism spectrum disorder or attention-deficit/hyperactivity disorder is common. Dilated cardiomyopathy, seen in 14 children, resulted in death from heart failure in five and cardiac transplantation in one. Seizures are seen in some individuals. Ichthyosis is common. LGMD: Motor development is normal; all affected children start walking at the usual age. Two affected individuals presented with rhabdomyolysis. One had mild intellectual disability. Behavior abnormalities and dilated cardiomyopathy were not observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355943">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370665"><div><strong>Mitochondrial trifunctional protein deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370665</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1969443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. TFP has three enzymatic activities – long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. Neonates with the severe phenotype present within a few days of birth with hypoglycemia, hepatomegaly, encephalopathy, and often cardiomyopathy. The intermediate phenotype is characterized by hypoketotic hypoglycemia precipitated by infection or fasting in infancy. The mild (late-onset) phenotype is characterized by myopathy and/or neuropathy. Long-term complications include peripheral neuropathy and retinopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370665">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410166"><div><strong>Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410166">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_435983"><div><strong>Early-onset myopathy with fatal cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435983</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2673677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Moderate joint and neck contractures and spinal rigidity may manifest in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction manifests between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/435983">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440575"><div><strong>Combined immunodeficiency due to STIM1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440575</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2748557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-10 (IMD10) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta (summary by Parry et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440575">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440578"><div><strong>Combined immunodeficiency due to ORAI1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440578</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2748568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-9 (IMD9) is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440578">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440714"><div><strong>Myopathy, congenital, with fiber-type disproportion, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440714</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2749128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440714">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413981"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413981</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Four phenotypes comprise the RRM2B mitochondrial DNA maintenance defects (RRM2B-MDMDs): RRM2B encephalomyopathic MDMD, the most severe phenotype, usually manifesting shortly after birth as hypotonia, poor feeding, and faltering growth requiring hospitalization. Subsequent assessments are likely to reveal multisystem involvement including sensorineural hearing loss, renal tubulopathy, and respiratory failure. Autosomal dominant progressive external ophthalmoplegia (adPEO), typically adult onset; other manifestations can include ptosis, bulbar dysfunction, fatigue, and muscle weakness. RRM2B autosomal recessive progressive external ophthalmoplegia (arPEO), a typically childhood-onset predominantly myopathic phenotype of PEO, ptosis, proximal muscle weakness, and bulbar dysfunction. RRM2B mitochondrial neurogastrointestinal encephalopathy (MNGIE)-like, characterized by progressive ptosis, ophthalmoplegia, gastrointestinal dysmotility, cachexia, and peripheral neuropathy. To date, 78 individuals from 52 families with a molecularly confirmed RRM2B-MDMD have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413981">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416525"><div><strong>Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416525</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751320</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416525">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414066"><div><strong>Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414066</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414066">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414111"><div><strong>Emery-Dreifuss muscular dystrophy 5, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414111</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414534"><div><strong>DPM3-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414534</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2752007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Limb-girdle muscular dystrophy-dystroglycanopathy type C15 (MDDGC15) is an autosomal recessive disorder characterized by progressive proximal muscle weakness, manifest initially as unsteady gait, but later including more distal muscles, and dilated cardiomyopathy. The age at onset varies widely from the first decade to adulthood; those with earlier onset may have delayed motor development. Laboratory studies show increased serum creatine kinase and muscle biopsy shows dystrophic features with decreased alpha-dystroglycan (DAG1; 128239). Biochemical studies often show evidence of abnormal N-glycosylation of serum proteins, consistent with a congenital disorder of glycosylation (CDG) (summary by Svahn et al., 2019). For a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 (609308). For a discussion of the classification of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414534">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419301"><div><strong>Malignant hyperthermia, susceptibility to, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419301</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2930981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419301">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_418956"><div><strong>Malignant hyperthermia, susceptibility to, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418956</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2930982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/418956">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419310"><div><strong>B4GALT1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419310</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans (summary by Hansske et al., 2002). For a general discussion of CDGs, see CDG1A (212065).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/419310">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_419735"><div><strong>Nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/419735">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_419364"><div><strong>Myopathy, autophagic vacuolar, infantile-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419364</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile-onset autophagic vacuolar myopathy is characterized by increased cardiac and skeletal muscle glycogen with normal acid maltase (GAA; 606800). Skeletal muscle biopsy shows characteristic intracytoplasmic vacuoles that stain for sarcolemmal proteins and complement proteins. Similar pathologic findings are seen in Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, and X-linked myopathy with excessive autophagy (XMEA; 310440), which has been mapped to Xq28.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419364">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_478179"><div><strong>Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478179</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3276549</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478179">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481352"><div><strong>Distal myopathy with posterior leg and anterior hand involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481352</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3279722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis, or inflammation (summary by Duff et al., 2011). Mutation in the FLNC gene can also cause myofibrillar myopathy-5 (MFM5; 609524), which shows a different pattern of muscle involvement and different histologic changes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481352">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482073"><div><strong>Distal myopathy, Tateyama type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482073</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482073">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482790"><div><strong>Ehlers-Danlos syndrome, kyphoscoliotic type, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482790</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3281160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS) is characterized by congenital muscle hypotonia and weakness (typically improving during childhood), progressive scoliosis, joint hypermobility, hyperelastic skin, gross motor developmental delay, myopathy, and hearing impairment. Most affected children achieve independent walking between ages two and four years. A decline of motor function in adulthood may be seen, but affected individuals are likely to be able to participate in activities of daily living in adulthood and maintain independent walking. Occasional features underlying systemic connective tissue involvement include aortic rupture and arterial dissection, subdural hygroma, insufficiency of cardiac valves, bluish sclerae, bladder diverticula, inguinal or umbilical herniae, and premature rupture of membranes during pregnancy. Rarer findings may include bifid uvula with submucous or frank cleft palate, speech/language delay without true cognitive impairment, and rectal prolapse.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482790">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767513"><div><strong>Mitochondrial DNA deletion syndrome with progressive myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767513</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression (summary by Ronchi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767513">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811387"><div><strong>Hypokalemic periodic paralysis, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811387</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811387">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811508"><div><strong>Muscle AMP deaminase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811508</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714933</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that AMPD1 deficiency may be a harmless entity (summary by Castro-Gago et al., 2011). Genetta et al. (2001) stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811508">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815798"><div><strong>Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815798</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809468</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815799"><div><strong>Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815799</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809469</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815799">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_860163"><div><strong>Myopathy, tubular aggregate, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860163</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4011726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate Myopathy See also TAM2 (615883), caused by mutation in the ORAI1 gene (610277) on chromosome 12q24.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/860163">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863306"><div><strong>LIPE-related familial partial lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863306</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014869</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy type 6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863306">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864080"><div><strong>Combined oxidative phosphorylation defect type 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864080</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-24 (COXPD24) is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Most patients present in infancy with delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment due to auditory neuropathy. Less common features may include cortical blindness, renal dysfunction, and/or liver involvement, suggestive of Alpers syndrome (MTDPS4A; 203700). Patients with the severe phenotype tend to have brain abnormalities on imaging, including cerebral atrophy and hyperintensities in the basal ganglia and brainstem, consistent with Leigh syndrome. Laboratory values may be normal or show increased lactate and evidence of mitochondrial respiratory chain defects, particularly in muscle. Some patients achieve little developmental milestones and may die in infancy or early childhood. However, some patients have a less severe phenotype manifest only by myopathy (summary by Sofou et al., 2015, Vanlander et al., 2015, and Mizuguchi et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864080">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902080"><div><strong>Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902080</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902080">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_894399"><div><strong>Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894399</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism (KFS4) is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/894399">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903881"><div><strong>Lethal congenital contracture syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903881</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225303</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lethal congenital contracture syndrome-9 (LCCS9) is an autosomal recessive disorder characterized by multiple flexion and extension contractures resulting from reduced or absent fetal movement (Ravenscroft et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903881">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_907426"><div><strong>Bethlem myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907426</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225313</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bethlem myopathy-2 (BTHLM2) is characterized by congenital hypotonia and myopathy. Motor development is delayed, but muscle strength improves with age, and patients are able to achieve ambulation. Proximal joint contractures that improve over time, as well as joint hyperlaxity, are also present. Muscle biopsy shows mild variability in fiber diameter, without degeneration or regeneration (Zou et al., 2014; Hicks et al., 2014). For a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1 (158810).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903254"><div><strong>Congenital myasthenic syndrome 2C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903254</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903254">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908185"><div><strong>Congenital myasthenic syndrome 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908185</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225374</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/908185">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908188"><div><strong>Congenital myasthenic syndrome 4A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908188</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908188">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_929724"><div><strong>Adducted thumbs-arthrogryposis syndrome, Christian type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>929724</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4304055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleroedema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/929724">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934757"><div><strong>Charcot-Marie-Tooth disease axonal type 2CC</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934757</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934757">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934789"><div><strong>Myopathy with abnormal lipid metabolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934789</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934789">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1623699"><div><strong>Combined oxidative phosphorylation deficiency 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623699</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4540209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1623699">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641069"><div><strong>Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641069</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551951</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641069">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648316"><div><strong>Muscular dystrophy, limb-girdle, autosomal dominant 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648316</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Calpainopathy is characterized by symmetric and progressive weakness of proximal limb-girdle muscles. Clinical findings of calpainopathy include the tendency to walk on tiptoe, difficulty in running, scapular winging, waddling gait, laxity of the abdominal muscles, Achilles tendon shortening, and scoliosis. Affected individuals typically do not have cardiac involvement or intellectual disability. Three autosomal recessive calpainopathy phenotypes have been identified based on the distribution of muscle weakness and age at onset: Pelvifemoral limb-girdle muscular dystrophy (LGMD) (Leyden-Möbius LGMD) phenotype, the most frequently observed calpainopathy phenotype, in which muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle, with onset that may occur as early as before age 12 years or as late as after age 30 years. Scapulohumeral LGMD (Erb LGMD) phenotype, usually a milder phenotype with infrequent early onset, in which muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle. HyperCKemia, usually observed in children or young individuals, in which individuals are asymptomatic and have high serum creatine kinase (CK) concentrations. The autosomal dominant form of calpainopathy is clinically variable, ranging from almost asymptomatic to wheelchair dependence after age 60 years in a few individuals; phenotype is generally milder than the recessive form.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648316">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648356"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648356</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748769</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648356">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648440"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648440</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648440">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648320"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648320</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648383"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648383</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648383">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648366"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 25</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648366">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682397"><div><strong>Combined oxidative phosphorylation defect type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682397</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5190991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-21 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682397">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683288"><div><strong>Myasthenic syndrome, congenital, 25, presynaptic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683288</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193027</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome-25 (CMS25) is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective (summary by Shen et al., 2017). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1683288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1720295"><div><strong>Emery-Dreifuss muscular dystrophy 1, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720295</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5243475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720295">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1725686"><div><strong>Arthrogryposis multiplex congenita 2, neurogenic type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1725686</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5435650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1725686">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1764743"><div><strong>Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1764743</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436530</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-17 (CMYO17) is an autosomal recessive muscle disorder. Affected individuals present at birth with hypotonia and respiratory insufficiency associated with high diaphragmatic dome on imaging. Other features include poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some. The severity of the disorder is highly variable: some patients may have delayed motor development with mildly decreased endurance, whereas others have more severe hypotonia associated with distal arthrogryposis and lung hypoplasia, resulting in early death (summary by Watson et al., 2016 and Lopes et al., 2018). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1764743">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1755743"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1755743</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development (MDDGB15) is characterized by elevated serum creatine kinase, developmental delay, epilepsy, impaired intellectual development, and brain abnormalities (Fu et al., 2019). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1755743">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798944"><div><strong>Myopathy, distal, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798944</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5567521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal myopathy-5 (MPD5) is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by Park et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798944">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799985"><div><strong>Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799985</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5568562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799985">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804638"><div><strong>Carey-Fineman-Ziter syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804638</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carey-Fineman-Ziter syndrome-1 (CFZS1) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS1 may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016). Di Gioia et al. (2017) determined that CFZS1 represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion. Genetic Heterogeneity of Carey-Fineman-Ziter Syndrome Carey-Fineman-Ziter syndrome-2 (CFZS2; 619941) is caused by mutation in the MYMX gene (619912) on chromosome 6p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804638">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1806598"><div><strong>Combined oxidative phosphorylation deficiency 55</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806598</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by Olahova et al., 2021). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1806598">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1847098"><div><strong>Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847098</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive progressive external ophthalmoplegia-6 (PEOB6) is characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle (Shintaku et al., 2022). For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1847098">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acetyl-CoA: carboxylase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_929724" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adducted thumbs-arthrogryposis syndrome, Christian type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1725686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita 2, neurogenic type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant limb-girdle muscular dystrophy type 1G</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (111)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial osteomalacia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">B4GALT1-congenital disorder of glycosylation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Batten-Turner congenital myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bethlem myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bethlem myopathy 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy associated with myopathy and sudden death</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carey-Fineman-Ziter syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine deficiency, myopathic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2CC</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Childhood hypophosphatasia</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to ORAI1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440575" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to STIM1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682397" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864080" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 24</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1623699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1806598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 55</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908185" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 2A</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903254" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 2C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908188" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 4A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of butyryl-CoA dehydrogenase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diaphyseal medullary stenosis-bone malignancy syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal myopathy with anterior tibial onset</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal myopathy with posterior leg and anterior hand involvement</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal myopathy, Tateyama type</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DPM3-congenital disorder of glycosylation</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435983" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset myopathy with fatal cardiomyopathy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, kyphoscoliotic type, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1720295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 1, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 5, autosomal dominant</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial partial lipodystrophy, Dunnigan type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fingerprint body myopathy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gamma-glutamylcysteine synthetase deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease type III</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease type X</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heart-hand syndrome, Slovenian type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342573" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary myopathy with lactic acidosis due to ISCU deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary xanthinuria type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">HNSHA due to aldolase A deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemic periodic paralysis, type 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inborn glycerol kinase deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile-onset X-linked spinal muscular atrophy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_182973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber optic atrophy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal congenital contracture syndrome 9</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal congenital glycogen storage disease of heart</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal infantile mitochondrial myopathy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LIPE-related familial partial lipodystrophy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419301" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia, susceptibility to, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia, susceptibility to, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marinesco-Sjögren syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">McLeod neuroacanthocytosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megaconial type congenital muscular dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MELAS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MERRF syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 25</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA deletion syndrome with progressive myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial trifunctional protein deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple endocrine neoplasia type 2B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle AMP deaminase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, Barnes type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal dominant 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1755743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenic syndrome, congenital, 25, presynaptic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy with abnormal lipid metabolism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371846" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy with storage of glycoproteins and Glycosaminoglycans</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, autophagic vacuolar, infantile-onset</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1764743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440714" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, congenital, with fiber-type disproportion, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, distal, 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, proximal, and ophthalmoplegia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_860163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, tubular aggregate, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myosin storage myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_231285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">NARP syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799985" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephropathic cystinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutral lipid storage myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_478179" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary pallidal degeneration</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal carnitine transport defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sengers syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902080" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stormorken syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stromme syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triglyceride storage disease with ichthyosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triosephosphate isomerase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vici syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked myopathy with excessive autophagy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335354" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked myotubular myopathy-abnormal genitalia syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36764512">Diagnosis and Management of Myositis-Associated Lung Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hallowell RW,
|
||
Danoff SK</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2023 Jun;163(6):1476-1491.
|
||
Epub 2023 Feb 9
|
||
doi: 10.1016/j.chest.2023.01.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36764512" target="_blank">36764512</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32284267">Clinical manifestations and treatment of antisynthetase syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marco JL,
|
||
Collins BF</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2020 Aug;34(4):101503.
|
||
Epub 2020 Apr 11
|
||
doi: 10.1016/j.berh.2020.101503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32284267" target="_blank">32284267</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29865091">Current Classification and Management of Inflammatory Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt J</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2018;5(2):109-129.
|
||
doi: 10.3233/JND-180308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29865091" target="_blank">29865091</a><a href="/pmc/articles/PMC6004913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22myopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (613)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38494286">Paraneoplastic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mammen AL</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;200:327-332.
|
||
doi: 10.1016/B978-0-12-823912-4.00022-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38494286" target="_blank">38494286</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703474">Distal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felice KJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):637-659.
|
||
Epub 2020 Jun 11
|
||
doi: 10.1016/j.ncl.2020.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703474" target="_blank">32703474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29496886">Statin-related myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hilton-Jones D</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2018 Apr;18(2):97-105.
|
||
Epub 2018 Mar 1
|
||
doi: 10.1136/practneurol-2017-001738.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29496886" target="_blank">29496886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25037080">A pattern recognition approach to patients with a suspected myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barohn RJ,
|
||
Dimachkie MM,
|
||
Jackson CE</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2014 Aug;32(3):569-93, vii.
|
||
doi: 10.1016/j.ncl.2014.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25037080" target="_blank">25037080</a><a href="/pmc/articles/PMC4233647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24305451">Toxic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mammen AL</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2013 Dec;19(6 Muscle Disease):1634-49.
|
||
doi: 10.1212/01.CON.0000440663.26427.f4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24305451" target="_blank">24305451</a><a href="/pmc/articles/PMC10563887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5206)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38176522">Autoimmune inflammatory myopathy biomarkers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Essouma M</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2024 Jan 15;553:117742.
|
||
Epub 2024 Jan 2
|
||
doi: 10.1016/j.cca.2023.117742.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38176522" target="_blank">38176522</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37562885">Congenital myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Younger DS</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;195:533-561.
|
||
doi: 10.1016/B978-0-323-98818-6.00027-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37562885" target="_blank">37562885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34155760">Idiopathic inflammatory myopathies: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashton C,
|
||
Paramalingam S,
|
||
Stevenson B,
|
||
Brusch A,
|
||
Needham M</span><br />
|
||
<span class="medgenPMjournal">Intern Med J</span>
|
||
2021 Jun;51(6):845-852.
|
||
doi: 10.1111/imj.15358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34155760" target="_blank">34155760</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703474">Distal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felice KJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):637-659.
|
||
Epub 2020 Jun 11
|
||
doi: 10.1016/j.ncl.2020.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703474" target="_blank">32703474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25037092">Distal myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimachkie MM,
|
||
Barohn RJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2014 Aug;32(3):817-42, x.
|
||
Epub 2014 May 15
|
||
doi: 10.1016/j.ncl.2014.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25037092" target="_blank">25037092</a><a href="/pmc/articles/PMC4109660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7159)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808555">Strength training and aerobic exercise training for muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
|
||
van der Kooi EL,
|
||
van Engelen BG,
|
||
Geurts AC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 6;12(12):CD003907.
|
||
doi: 10.1002/14651858.CD003907.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808555" target="_blank">31808555</a><a href="/pmc/articles/PMC6953420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31687097">Coenzyme Q(10).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raizner AE</span><br />
|
||
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
|
||
2019 Jul-Sep;15(3):185-191.
|
||
doi: 10.14797/mdcj-15-3-185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31687097" target="_blank">31687097</a><a href="/pmc/articles/PMC6822644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29794577">What is in the Myopathy Literature?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lacomis D</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2018 Jun;19(4):217-223.
|
||
doi: 10.1097/CND.0000000000000203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29794577" target="_blank">29794577</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28154101">Cardioembolic Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamel H,
|
||
Healey JS</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2017 Feb 3;120(3):514-526.
|
||
doi: 10.1161/CIRCRESAHA.116.308407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28154101" target="_blank">28154101</a><a href="/pmc/articles/PMC5312810" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27616593">Interpretation of the evidence for the efficacy and safety of statin therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collins R,
|
||
Reith C,
|
||
Emberson J,
|
||
Armitage J,
|
||
Baigent C,
|
||
Blackwell L,
|
||
Blumenthal R,
|
||
Danesh J,
|
||
Smith GD,
|
||
DeMets D,
|
||
Evans S,
|
||
Law M,
|
||
MacMahon S,
|
||
Martin S,
|
||
Neal B,
|
||
Poulter N,
|
||
Preiss D,
|
||
Ridker P,
|
||
Roberts I,
|
||
Rodgers A,
|
||
Sandercock P,
|
||
Schulz K,
|
||
Sever P,
|
||
Simes J,
|
||
Smeeth L,
|
||
Wald N,
|
||
Yusuf S,
|
||
Peto R</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2016 Nov 19;388(10059):2532-2561.
|
||
Epub 2016 Sep 8
|
||
doi: 10.1016/S0140-6736(16)31357-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27616593" target="_blank">27616593</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4086)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29526319">Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nascimento Osorio A,
|
||
Medina Cantillo J,
|
||
Camacho Salas A,
|
||
Madruga Garrido M,
|
||
Vilchez Padilla JJ</span><br />
|
||
<span class="medgenPMjournal">Neurologia (Engl Ed)</span>
|
||
2019 Sep;34(7):469-481.
|
||
Epub 2018 Mar 9
|
||
doi: 10.1016/j.nrl.2018.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29526319" target="_blank">29526319</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30031496">Juvenile Idiopathic Inflammatory Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huber AM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2018 Aug;65(4):739-756.
|
||
doi: 10.1016/j.pcl.2018.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30031496" target="_blank">30031496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26242743">Clinical review: intensive care unit acquired weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hermans G,
|
||
Van den Berghe G</span><br />
|
||
<span class="medgenPMjournal">Crit Care</span>
|
||
2015 Aug 5;19(1):274.
|
||
doi: 10.1186/s13054-015-0993-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26242743" target="_blank">26242743</a><a href="/pmc/articles/PMC4526175" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23184844">Proctalgia fugax.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeyarajah S,
|
||
Purkayastha S</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2013 Mar 19;185(5):417.
|
||
Epub 2012 Nov 26
|
||
doi: 10.1503/cmaj.101613.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23184844" target="_blank">23184844</a><a href="/pmc/articles/PMC3602260" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21939902">Critical illness polyneuropathy and myopathy: a major cause of muscle weakness and paralysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Latronico N,
|
||
Bolton CF</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2011 Oct;10(10):931-41.
|
||
doi: 10.1016/S1474-4422(11)70178-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21939902" target="_blank">21939902</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3045)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38801022">Management of immune-mediated necrotizing myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suh J,
|
||
Amato AA</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2024 Aug;70(2):166-172.
|
||
Epub 2024 May 27
|
||
doi: 10.1002/mus.28114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38801022" target="_blank">38801022</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33902423">Juvenile Dermatomyositis: Advances in Pathogenesis, Assessment, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung AKC,
|
||
Lam JM,
|
||
Alobaida S,
|
||
Leong KF,
|
||
Wong AHC</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2021;17(4):273-287.
|
||
doi: 10.2174/1573396317666210426105045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33902423" target="_blank">33902423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32358246">Critical Illness Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tankisi H,
|
||
de Carvalho M,
|
||
Z'Graggen WJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurophysiol</span>
|
||
2020 May;37(3):205-207.
|
||
doi: 10.1097/WNP.0000000000000658.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32358246" target="_blank">32358246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31594457">Autophagy Defects in Skeletal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margeta M</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Pathol</span>
|
||
2020 Jan 24;15:261-285.
|
||
Epub 2019 Oct 8
|
||
doi: 10.1146/annurev-pathmechdis-012419-032618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31594457" target="_blank">31594457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26133937">The Sick and the Weak: Neuropathies/Myopathies in the Critically Ill.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich O,
|
||
Reid MB,
|
||
Van den Berghe G,
|
||
Vanhorebeek I,
|
||
Hermans G,
|
||
Rich MM,
|
||
Larsson L</span><br />
|
||
<span class="medgenPMjournal">Physiol Rev</span>
|
||
2015 Jul;95(3):1025-109.
|
||
doi: 10.1152/physrev.00028.2014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26133937" target="_blank">26133937</a><a href="/pmc/articles/PMC4491544" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3730)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35766013">Use of Janus kinase inhibitors in dermatomyositis: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paik JJ,
|
||
Lubin G,
|
||
Gromatzky A,
|
||
Mudd PN Jr,
|
||
Ponda MP,
|
||
Christopher-Stine L</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2023 Mar;41(2):348-358.
|
||
Epub 2022 Jun 28
|
||
doi: 10.55563/clinexprheumatol/hxin6o.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35766013" target="_blank">35766013</a><a href="/pmc/articles/PMC10105327" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32016627">Adult complications of nephropathic cystinosis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasimer RN,
|
||
Langman CB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2021 Feb;36(2):223-236.
|
||
Epub 2020 Feb 3
|
||
doi: 10.1007/s00467-020-04487-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32016627" target="_blank">32016627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808555">Strength training and aerobic exercise training for muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
|
||
van der Kooi EL,
|
||
van Engelen BG,
|
||
Geurts AC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 6;12(12):CD003907.
|
||
doi: 10.1002/14651858.CD003907.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808555" target="_blank">31808555</a><a href="/pmc/articles/PMC6953420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27301374">Beyond muscle destruction: a systematic review of rhabdomyolysis for clinical practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chavez LO,
|
||
Leon M,
|
||
Einav S,
|
||
Varon J</span><br />
|
||
<span class="medgenPMjournal">Crit Care</span>
|
||
2016 Jun 15;20(1):135.
|
||
doi: 10.1186/s13054-016-1314-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27301374" target="_blank">27301374</a><a href="/pmc/articles/PMC4908773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25737049">Physical rehabilitation for critical illness myopathy and neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehrholz J,
|
||
Pohl M,
|
||
Kugler J,
|
||
Burridge J,
|
||
Mückel S,
|
||
Elsner B</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 Mar 4;2015(3):CD010942.
|
||
doi: 10.1002/14651858.CD010942.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25737049" target="_blank">25737049</a><a href="/pmc/articles/PMC11026869" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (169)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0026848%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (39)</a></li>
|
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<li><a href="/gtr/tests?term=C0026848%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
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<li><a href="/gtr/tests?term=C0026848%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (61)</a></li>
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