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<meta name="keywords" content="C1843697, axial muscle weakness, finding, muscle weakness, axial, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=334472
|
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ConceptID=C1843697
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Axial muscle weakness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334472</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.">C1843697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Muscle weakness, axial</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003327">HP:0003327</a></td></tr>
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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">Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). [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 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=C1843697[DISCUI]&test_type=Clinical" ref="ncbi_uid=334472">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Axial muscle weakness</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/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><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="matched_ds">Axial muscle weakness</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<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="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_98047"><div><strong>Eichsfeld type congenital muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98047</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.">C0410180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems.\n\nIn RSMD, muscle weakness is often apparent at birth or within the first few months of life. Affected infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor skills such as crawling or walking. Over time, muscles surrounding the spine atrophy, and the joints of the spine develop deformities called contractures that restrict movement. The neck and back become stiff and rigid, and affected children have limited ability to move their heads up and down or side to side. Affected children eventually develop an abnormal curvature of the spine (scoliosis). In some people with RSMD, muscles in the inner thighs also atrophy, although it does not impair the ability to walk.\n\nA characteristic feature of RSMD is breathing difficulty (respiratory insufficiency) due to restricted movement of the torso and weakness of the diaphragm, which is the muscle that separates the abdomen from the chest cavity. The breathing problems, which tend to occur only at night, can be life-threatening. Many affected individuals require a machine to help them breathe (mechanical ventilation) during sleep.\n\nThe combination of features characteristic of RSMD, particularly axial muscle weakness, spine rigidity, and respiratory insufficiency, is sometimes referred to as rigid spine syndrome. While these features occur on their own in RSMD, they can also occur along with additional signs and symptoms in other muscle disorders. The features of rigid spine syndrome typically appear at a younger age in people with RSMD than in those with other muscle disorders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98047">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98049"><div><strong>Myopathy, centronuclear, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98049</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.">C0410204</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98049">Condition Record</a></div></div>
|
||
<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_340597"><div><strong>Congenital multicore myopathy with external ophthalmoplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340597</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.">C1850674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-1B (CMYO1B) is an autosomal recessive disorder of skeletal muscle characterized by severe hypotonia and generalized muscle weakness apparent soon after birth or in early childhood with delayed motor development, generalized muscle weakness and atrophy, and difficulty walking or running. Affected individuals show proximal muscle weakness with axial and shoulder girdle involvement, external ophthalmoplegia, and bulbar weakness, often resulting in feeding difficulties and respiratory insufficiency. Orthopedic complications such as joint laxity, distal contractures, hip dislocation, cleft palate, and scoliosis are commonly observed. Serum creatine kinase is normal. The phenotype is variable in severity (Jungbluth et al., 2005; Bharucha-Goebel et al., 2013). Some patients show symptoms in utero, including reduced fetal movements, polyhydramnios, and intrauterine growth restriction. The most severely affected patients present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations can show variable features, including multiminicores (Ferreiro and Fardeau, 2002), central cores (Jungbluth et al., 2002), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340597">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376880"><div><strong>Congenital myasthenic syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376880</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.">C1850792</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 (NMJ). 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. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors 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/376880">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413043"><div><strong>Congenital muscular dystrophy due to LMNA mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413043</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.">C2750785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.\n\nIn people with L-CMD, muscle weakness becomes apparent in infancy or early childhood and can worsen quickly. The most severely affected infants develop few motor skills, and they are never able to hold up their heads, roll over, or sit. Less severely affected children may learn to sit, stand, and walk before muscle weakness becomes apparent. First the neck muscles weaken, causing the head to fall forward (dropped-head syndrome). As other skeletal muscles become weaker, these children may ultimately lose the ability to sit, stand, and walk unassisted.\n\nOther features of L-CMD often include spinal rigidity and abnormal curvature of the spine (scoliosis and lordosis); joint deformities (contractures) that restrict movement, particularly in the hips and legs; and an inward-turning foot. People with L-CMD also have an increased risk of heart rhythm abnormalities (arrhythmias).\n\nOver time, muscle weakness causes most infants and children with L-CMD to have trouble eating and breathing. The breathing problems result from restrictive respiratory insufficiency, which occurs when muscles in the chest are weakened and the ribcage becomes increasingly rigid. This problem can be life-threatening, and many affected children require support with a machine to help them breathe (mechanical ventilation).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/413043">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_414119"><div><strong>Myofibrillar myopathy 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414119</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.">C2751831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-6 (MFM6) is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Most patients also have a motor or sensorimotor axonal peripheral neuropathy. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, rimmed vacuoles, and filamentous inclusions, consistent with a myofibrillar myopathy. The disorder may cause severe disability by the second decade, leading to cardiac transplant, ventilation, and/or loss of ambulation (summary by Jaffer et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414119">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762102"><div><strong>Congenital myopathy 10b, mild variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762102</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.">C3541476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-10B (CMYO10B) is an autosomal recessive skeletal muscle disorder characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation. Other common features include facial and neck muscle weakness, feeding difficulties, contractures, scoliosis, high-arched palate, hyporeflexia, and difficulties walking. The disorder is slowly progressive and most patients follow a chronic course. Muscle biopsy shows variable findings, including type 1 fiber predominance, minicore lesions, and myofibrillar disorganization (Boyden et al., 2012; Harris et al., 2018). Patients with missense mutations affecting conserved cysteine residues in the EGF-like domain show the mild variant phenotype (CMYO10B) with later onset of respiratory failure and minicores on muscle biopsy, whereas patients with more damaging mutations, including nonsense or frameshift null mutations, show the severe variant phenotype (CMYO10A) (Croci et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762102">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863251"><div><strong>Myopathy, centronuclear, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863251</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.">C4014814</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Centronuclear myopathy-5 (CNM5) is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014). For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863251">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897962"><div><strong>Congenital myasthenic syndrome 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897962</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.">C4225235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome-19 (CMS19) is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897962">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_901897"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901897</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.">C4225312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOB2) is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/901897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895641"><div><strong>Congenital myasthenic syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895641</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.">C4225368</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) clinically characterized 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. Patients may show a favorable response to amifampridine (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/895641">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934703"><div><strong>Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934703</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.">C4310736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare congenital muscular dystrophy characterised by neonatal hypotonia, life-threatening respiratory failure and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalised joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fibre size variability, rounded fibres with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibres and cap lesions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1669929"><div><strong>Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1669929</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.">C4747715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013). For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1669929">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1672638"><div><strong>Congenital myopathy with reduced type 2 muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1672638</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.">C5193081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-14 (CMYO14) is an autosomal recessive skeletal muscle disorder characterized by onset of severe muscle weakness apparent at birth and sometimes in utero. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. Other features include delayed motor development with delayed walking, hypo- or areflexia, and high-arched palate. Skeletal muscle biopsy shows variation in fiber size with specific atrophy of the fast-twitch type II fibers. Cardiac muscle is not affected (summary by Ravenscroft et al., 2018). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1672638">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684886"><div><strong>Myopathy, congenital, with tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684886</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.">C5231401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-16 (CMYO16) is an autosomal dominant muscle disorder characterized by onset of hypotonia and tremor in infancy. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. Some may develop secondary mild contractures or spinal deformities. Cognition is normal and the disease course tends to stabilize after adolescence (summary by Stavusis et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684886">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782465"><div><strong>Myofibrillar myopathy 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782465</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.">C5543038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-11 (MFM11) is an autosomal recessive skeletal muscle disorder characterized by onset of slowly progressive proximal muscle weakness in the first decade of life. Some patients may present at birth with hypotonia and feeding difficulties, whereas others present later in mid-childhood. Although most patients show delayed walking at 2 to 3 years, all remain ambulatory into adulthood. More variable features may include decreased respiratory forced vital capacity, variable cardiac features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic changes with variation in fiber size, type 1 fiber predominance, centralized nuclei, eccentrically placed core-like lesions, and distortion of the myofibrillary pattern with Z-line streaming and abnormal myofibrillar aggregates or inclusions (summary by Donkervoort et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782465">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798903"><div><strong>Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798903</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.">C5567480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798903">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800921"><div><strong>Carey-Fineman-Ziter syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800921</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.">C5677012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carey-Fineman-Ziter syndrome-2 (CFZS2) is an autosomal recessive neuromuscular disorder characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency. Additional variable features include hearing loss, scoliosis, joint contractures, cleft palate, hypoglossia, and abnormalities on neuroimaging studies (summary by Rahman et al., 2024). For a discussion of genetic heterogeneity of Carey-Fineman-Ziter syndrome, see CFZS1 (254940).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1800921">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840919"><div><strong>Congenital myopathy 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840919</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.">C5830283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-18 (CMYO18) is a disorder of the skeletal muscle characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy. There is clinical heterogeneity in the manifestations and severity, ranging from fetal akinesia sequence causing early death to onset of symptoms in adulthood. Most affected individuals show delayed motor development with generalized hypotonia and progressive axial and limb muscle weakness beginning soon after birth or in infancy. Additional features may include swallowing difficulties, external ophthalmoplegia, ptosis, high-arched palate, and respiratory insufficiency, which can lead to death in severe cases. Muscle biopsy shows variable morphologic abnormalities, including alveolar changes in the intermyofibrillar network, fiber size variability, focal disorganization, internal nuclei, and dilated sarcoplasmic reticulum and T-tubules. The disorder results from a defect in excitation-contraction coupling in skeletal muscle (Schartner et al., 2017; Ravenscroft et al., 2021; Mauri et al., 2021; Yis et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840919">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840998"><div><strong>Myopathy, sarcoplasmic body</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840998</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.">C5830362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Sarcoplasmic body myopathy (MYOSB), also known as myoglobinopathy, is an autosomal dominant disorder characterized by adult-onset muscle weakness affecting the proximal and distal muscles. Affected individuals usually present with proximal and axial muscle weakness leading to gait disturbances, although some present with hand muscle weakness and atrophy. The disorder is slowly progressive, and patients may lose ambulation after a long disease course. Some individuals develop respiratory or cardiac symptoms, often needing nocturnal ventilation. Other more variable features may include neck muscle weakness and dysphagia; facial muscle weakness is uncommon (Olive et al., 2019; Hama et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840998">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841089"><div><strong>Congenital myopathy 22A, classic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841089</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.">C5830453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Classic congenital myopathy-22A (CMYO22A) is an autosomal recessive muscle disorder characterized by onset of muscle weakness in utero or soon after birth. Early features may include fetal hypokinesia, breech presentation, and polyhydramnios. Affected individuals are born with severe hypotonia and require respiratory and feeding assistance. Those who survive the neonatal period show a 'classic' phenotype of congenital myopathy with delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities. Some have persistent respiratory insufficiency; dysmorphic facial features may be present (Zaharieva et al., 2016). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841089">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841137"><div><strong>Congenital myopathy 22B, severe fetal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841137</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.">C5830501</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe fetal congenital myopathy-22B (CMYO22B) is an autosomal recessive muscle disorder characterized by in utero onset of severe muscle weakness manifest as fetal akinesia. The pregnancies are often complicated by polyhydramnios, and affected individuals develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Those who are born have respiratory failure resulting in death. Dysmorphic facial features may be present. The features in these patients overlap with fetal akinesia deformation sequence (FADS; see 208150) and lethal congenital contractures syndrome (LCCS; see 253310) (Zaharieva et al., 2016). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841137">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1841154"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841154</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.">C5830518</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 limb-girdle muscular dystrophy-28 (LGMDR28) is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. The age at onset is highly variable, usually in the first decade, although onset in the fourth decade has also been reported. The disorder can be rapidly progressive or show a slower course. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase and elevated fasting blood glucose levels, although cholesterol is normal. EMG shows a myopathic pattern; muscle biopsy is generally unremarkable, but can show nonspecific myopathic or dystrophic features (Yogev et al., 2023; Morales-Rosado et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841154">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841318"><div><strong>Oculopharyngeal muscular dystrophy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841318</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.">C5830682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculopharyngeal muscular dystrophy-2 (OPMD2) is an autosomal dominant muscle disorder characterized by early-onset ptosis, ophthalmoplegia, dysphagia, variable respiratory insufficiency, and proximal limb muscle weakness. Most patients have onset in the first years of life, although rare patients have onset in their teens. The disorder is slowly progressive and the severity is highly variable; the most severely affected individuals lose ambulation and may require tube-feeding or noninvasive ventilation (Kim et al., 2022). For a discussion of genetic heterogeneity of OPMD, see OPMD1 (164300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841318">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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847098">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861965"><div><strong>Auroneurodental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861965</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.">C5889721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Auroneurodental syndrome (ANDS) is an autosomal recessive disorder characterized by progressive high-frequency sensorineural hearing loss, mild proximal and axial muscle weakness, and dental anomalies (Muffels et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861965">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861320"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861320</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.">C5935611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-29 (LGMDR29) is a neuromuscular disorder characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. The disorder, which causes walking difficulties, is progressive and may result in loss of ambulation. Additional features include joint contractures, spinal abnormalities, and significant restrictive ventilatory dysfunction. Muscle biopsy shows dystrophic and myofibrillar changes, and serum creatine kinase is increased. Rare individuals have been reported to have central nervous system involvement, including cataracts, developmental delay, and brain imaging abnormalities (Nashabat et al., 2024 and Iruzubieta et al., 2024). For a discussion of genetic heterogeneity of autosomal recessive limb- girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861320">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861965" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Auroneurodental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1669929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carey-Fineman-Ziter syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340597" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital multicore myopathy with external ophthalmoplegia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital muscular dystrophy due to LMNA mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 19</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 10b, mild variant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 22A, classic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 22B, severe fetal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1672638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy with reduced type 2 muscle fibers</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eichsfeld type congenital muscular dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841154" 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 recessive 28</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861320" 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 recessive 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782465" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, centronuclear, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, centronuclear, 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, congenital, with tremor</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, sarcoplasmic body</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculopharyngeal muscular dystrophy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901897" 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 2</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></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/25673129">Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montagnese F,
|
||
Barca E,
|
||
Musumeci O,
|
||
Mondello S,
|
||
Migliorato A,
|
||
Ciranni A,
|
||
Rodolico C,
|
||
De Filippi P,
|
||
Danesino C,
|
||
Toscano A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2015;262(4):968-78.
|
||
Epub 2015 Feb 12
|
||
doi: 10.1007/s00415-015-7664-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25673129" target="_blank">25673129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22axial%20muscle%20weakness%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 (1)</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/37807786">SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
Groothuis JT,
|
||
Doorduin J,
|
||
van Alfen N,
|
||
Udink Ten Cate FEA,
|
||
van den Heuvel FMA,
|
||
Nijveldt R,
|
||
Kamsteeg EJ,
|
||
Dittrich ATM,
|
||
Draaisma JMT,
|
||
Janssen MCH,
|
||
van Engelen BGM,
|
||
Erasmus CE,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2023;10(6):1055-1074.
|
||
doi: 10.3233/JND-221673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37807786" target="_blank">37807786</a><a href="/pmc/articles/PMC10657684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32928284">Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Dorpel JJA,
|
||
Poelman E,
|
||
Harlaar L,
|
||
van Kooten HA,
|
||
van der Giessen LJ,
|
||
van Doorn PA,
|
||
van der Ploeg AT,
|
||
van den Hout JMP,
|
||
van der Beek NAME</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Sep 14;15(1):247.
|
||
doi: 10.1186/s13023-020-01482-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32928284" target="_blank">32928284</a><a href="/pmc/articles/PMC7488760" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32796131">The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Villar-Quiles RN,
|
||
von der Hagen M,
|
||
Métay C,
|
||
Gonzalez V,
|
||
Donkervoort S,
|
||
Bertini E,
|
||
Castiglioni C,
|
||
Chaigne D,
|
||
Colomer J,
|
||
Cuadrado ML,
|
||
de Visser M,
|
||
Desguerre I,
|
||
Eymard B,
|
||
Goemans N,
|
||
Kaindl A,
|
||
Lagrue E,
|
||
Lütschg J,
|
||
Malfatti E,
|
||
Mayer M,
|
||
Merlini L,
|
||
Orlikowski D,
|
||
Reuner U,
|
||
Salih MA,
|
||
Schlotter-Weigel B,
|
||
Stoetter M,
|
||
Straub V,
|
||
Topaloglu H,
|
||
Urtizberea JA,
|
||
van der Kooi A,
|
||
Wilichowski E,
|
||
Romero NB,
|
||
Fardeau M,
|
||
Bönnemann CG,
|
||
Estournet B,
|
||
Richard P,
|
||
Quijano-Roy S,
|
||
Schara U,
|
||
Ferreiro A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Sep 15;95(11):e1512-e1527.
|
||
Epub 2020 Aug 13
|
||
doi: 10.1212/WNL.0000000000010327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32796131" target="_blank">32796131</a><a href="/pmc/articles/PMC7713742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28606403">Diaphragmatic dysfunction in SEPN1-related myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caggiano S,
|
||
Khirani S,
|
||
Dabaj I,
|
||
Cavassa E,
|
||
Amaddeo A,
|
||
Arroyo JO,
|
||
Desguerre I,
|
||
Richard P,
|
||
Cutrera R,
|
||
Ferreiro A,
|
||
Estournet B,
|
||
Quijano-Roy S,
|
||
Fauroux B</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2017 Aug;27(8):747-755.
|
||
Epub 2017 Apr 26
|
||
doi: 10.1016/j.nmd.2017.04.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28606403" target="_blank">28606403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7818252">Late-onset mitochondrial myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston W,
|
||
Karpati G,
|
||
Carpenter S,
|
||
Arnold D,
|
||
Shoubridge EA</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1995 Jan;37(1):16-23.
|
||
doi: 10.1002/ana.410370106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7818252" target="_blank">7818252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axial%20muscle%20weakness%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39177608">Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
van den Heuvel FMA,
|
||
Evertz R,
|
||
Boesaard E,
|
||
Groothuis JT,
|
||
van Engelen BGM,
|
||
Nijveldt R,
|
||
Erasmus CE,
|
||
Udink Ten Cate FEA,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024;11(5):919-934.
|
||
doi: 10.3233/JND-230190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39177608" target="_blank">39177608</a><a href="/pmc/articles/PMC11380286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33846077">Clinical and genetic characteristics of Chinese patients with reducing body myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen L,
|
||
Lin HX,
|
||
Yang XX,
|
||
Chen DF,
|
||
Dong HL,
|
||
Yu H,
|
||
Liu GL,
|
||
Wu ZY</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 May;31(5):442-449.
|
||
Epub 2021 Feb 12
|
||
doi: 10.1016/j.nmd.2021.02.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33846077" target="_blank">33846077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32796131">The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Villar-Quiles RN,
|
||
von der Hagen M,
|
||
Métay C,
|
||
Gonzalez V,
|
||
Donkervoort S,
|
||
Bertini E,
|
||
Castiglioni C,
|
||
Chaigne D,
|
||
Colomer J,
|
||
Cuadrado ML,
|
||
de Visser M,
|
||
Desguerre I,
|
||
Eymard B,
|
||
Goemans N,
|
||
Kaindl A,
|
||
Lagrue E,
|
||
Lütschg J,
|
||
Malfatti E,
|
||
Mayer M,
|
||
Merlini L,
|
||
Orlikowski D,
|
||
Reuner U,
|
||
Salih MA,
|
||
Schlotter-Weigel B,
|
||
Stoetter M,
|
||
Straub V,
|
||
Topaloglu H,
|
||
Urtizberea JA,
|
||
van der Kooi A,
|
||
Wilichowski E,
|
||
Romero NB,
|
||
Fardeau M,
|
||
Bönnemann CG,
|
||
Estournet B,
|
||
Richard P,
|
||
Quijano-Roy S,
|
||
Schara U,
|
||
Ferreiro A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Sep 15;95(11):e1512-e1527.
|
||
Epub 2020 Aug 13
|
||
doi: 10.1212/WNL.0000000000010327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32796131" target="_blank">32796131</a><a href="/pmc/articles/PMC7713742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16967488">Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marques VD,
|
||
Barreira AA,
|
||
Davis MB,
|
||
Abou-Sleiman PM,
|
||
Silva WA Jr,
|
||
Zago MA,
|
||
Sobreira C,
|
||
Fazan V,
|
||
Marques W Jr</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2006 Dec;34(6):731-9.
|
||
doi: 10.1002/mus.20657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16967488" target="_blank">16967488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7818252">Late-onset mitochondrial myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston W,
|
||
Karpati G,
|
||
Carpenter S,
|
||
Arnold D,
|
||
Shoubridge EA</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1995 Jan;37(1):16-23.
|
||
doi: 10.1002/ana.410370106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7818252" target="_blank">7818252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axial%20muscle%20weakness%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 (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37807786">SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
Groothuis JT,
|
||
Doorduin J,
|
||
van Alfen N,
|
||
Udink Ten Cate FEA,
|
||
van den Heuvel FMA,
|
||
Nijveldt R,
|
||
Kamsteeg EJ,
|
||
Dittrich ATM,
|
||
Draaisma JMT,
|
||
Janssen MCH,
|
||
van Engelen BGM,
|
||
Erasmus CE,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2023;10(6):1055-1074.
|
||
doi: 10.3233/JND-221673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37807786" target="_blank">37807786</a><a href="/pmc/articles/PMC10657684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33799647">Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moriggi M,
|
||
Capitanio D,
|
||
Torretta E,
|
||
Barbacini P,
|
||
Bragato C,
|
||
Sartori P,
|
||
Moggio M,
|
||
Maggi L,
|
||
Mora M,
|
||
Gelfi C</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Mar 11;22(6)
|
||
doi: 10.3390/ijms22062850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33799647" target="_blank">33799647</a><a href="/pmc/articles/PMC8001152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33711792">Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carrera-García L,
|
||
Muchart J,
|
||
Lazaro JJ,
|
||
Expósito-Escudero J,
|
||
Cuadras D,
|
||
Medina J,
|
||
Bosch de Basea M,
|
||
Colomer J,
|
||
Jimenez-Mallebrera C,
|
||
Ortez C,
|
||
Natera-de Benito D,
|
||
Nascimento A</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Mar;31:92-101.
|
||
Epub 2021 Mar 4
|
||
doi: 10.1016/j.ejpn.2021.02.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33711792" target="_blank">33711792</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32928284">Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Dorpel JJA,
|
||
Poelman E,
|
||
Harlaar L,
|
||
van Kooten HA,
|
||
van der Giessen LJ,
|
||
van Doorn PA,
|
||
van der Ploeg AT,
|
||
van den Hout JMP,
|
||
van der Beek NAME</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Sep 14;15(1):247.
|
||
doi: 10.1186/s13023-020-01482-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32928284" target="_blank">32928284</a><a href="/pmc/articles/PMC7488760" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32796131">The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Villar-Quiles RN,
|
||
von der Hagen M,
|
||
Métay C,
|
||
Gonzalez V,
|
||
Donkervoort S,
|
||
Bertini E,
|
||
Castiglioni C,
|
||
Chaigne D,
|
||
Colomer J,
|
||
Cuadrado ML,
|
||
de Visser M,
|
||
Desguerre I,
|
||
Eymard B,
|
||
Goemans N,
|
||
Kaindl A,
|
||
Lagrue E,
|
||
Lütschg J,
|
||
Malfatti E,
|
||
Mayer M,
|
||
Merlini L,
|
||
Orlikowski D,
|
||
Reuner U,
|
||
Salih MA,
|
||
Schlotter-Weigel B,
|
||
Stoetter M,
|
||
Straub V,
|
||
Topaloglu H,
|
||
Urtizberea JA,
|
||
van der Kooi A,
|
||
Wilichowski E,
|
||
Romero NB,
|
||
Fardeau M,
|
||
Bönnemann CG,
|
||
Estournet B,
|
||
Richard P,
|
||
Quijano-Roy S,
|
||
Schara U,
|
||
Ferreiro A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Sep 15;95(11):e1512-e1527.
|
||
Epub 2020 Aug 13
|
||
doi: 10.1212/WNL.0000000000010327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32796131" target="_blank">32796131</a><a href="/pmc/articles/PMC7713742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axial%20muscle%20weakness%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34043258">Inflammatory features in sporadic late-onset nemaline myopathy are independent from monoclonal gammopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanboon J,
|
||
Uruha A,
|
||
Arahata Y,
|
||
Dittmayer C,
|
||
Schweizer L,
|
||
Goebel HH,
|
||
Nishino I,
|
||
Stenzel W</span><br />
|
||
<span class="medgenPMjournal">Brain Pathol</span>
|
||
2021 May;31(3):e12962.
|
||
doi: 10.1111/bpa.12962.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34043258" target="_blank">34043258</a><a href="/pmc/articles/PMC8412091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33051934">Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guimarães-Costa R,
|
||
Fernández-Eulate G,
|
||
Wahbi K,
|
||
Leturcq F,
|
||
Malfatti E,
|
||
Behin A,
|
||
Leonard-Louis S,
|
||
Desguerre I,
|
||
Barnerias C,
|
||
Nougues MC,
|
||
Isapof A,
|
||
Estournet-Mathiaud B,
|
||
Quijano-Roy S,
|
||
Fayssoil A,
|
||
Orlikowski D,
|
||
Fauroux B,
|
||
Richard I,
|
||
Semplicini C,
|
||
Romero NB,
|
||
Querin G,
|
||
Eymard B,
|
||
Laforêt P,
|
||
Stojkovic T</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2021 Feb;28(2):660-669.
|
||
Epub 2020 Nov 21
|
||
doi: 10.1111/ene.14592.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33051934" target="_blank">33051934</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32796131">The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Villar-Quiles RN,
|
||
von der Hagen M,
|
||
Métay C,
|
||
Gonzalez V,
|
||
Donkervoort S,
|
||
Bertini E,
|
||
Castiglioni C,
|
||
Chaigne D,
|
||
Colomer J,
|
||
Cuadrado ML,
|
||
de Visser M,
|
||
Desguerre I,
|
||
Eymard B,
|
||
Goemans N,
|
||
Kaindl A,
|
||
Lagrue E,
|
||
Lütschg J,
|
||
Malfatti E,
|
||
Mayer M,
|
||
Merlini L,
|
||
Orlikowski D,
|
||
Reuner U,
|
||
Salih MA,
|
||
Schlotter-Weigel B,
|
||
Stoetter M,
|
||
Straub V,
|
||
Topaloglu H,
|
||
Urtizberea JA,
|
||
van der Kooi A,
|
||
Wilichowski E,
|
||
Romero NB,
|
||
Fardeau M,
|
||
Bönnemann CG,
|
||
Estournet B,
|
||
Richard P,
|
||
Quijano-Roy S,
|
||
Schara U,
|
||
Ferreiro A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Sep 15;95(11):e1512-e1527.
|
||
Epub 2020 Aug 13
|
||
doi: 10.1212/WNL.0000000000010327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32796131" target="_blank">32796131</a><a href="/pmc/articles/PMC7713742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28606403">Diaphragmatic dysfunction in SEPN1-related myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caggiano S,
|
||
Khirani S,
|
||
Dabaj I,
|
||
Cavassa E,
|
||
Amaddeo A,
|
||
Arroyo JO,
|
||
Desguerre I,
|
||
Richard P,
|
||
Cutrera R,
|
||
Ferreiro A,
|
||
Estournet B,
|
||
Quijano-Roy S,
|
||
Fauroux B</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2017 Aug;27(8):747-755.
|
||
Epub 2017 Apr 26
|
||
doi: 10.1016/j.nmd.2017.04.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28606403" target="_blank">28606403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23632945">Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peterle E,
|
||
Fanin M,
|
||
Semplicini C,
|
||
Padilla JJ,
|
||
Nigro V,
|
||
Angelini C</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2013 Aug;260(8):2033-41.
|
||
Epub 2013 Apr 30
|
||
doi: 10.1007/s00415-013-6931-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23632945" target="_blank">23632945</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axial%20muscle%20weakness%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37807786">SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
Groothuis JT,
|
||
Doorduin J,
|
||
van Alfen N,
|
||
Udink Ten Cate FEA,
|
||
van den Heuvel FMA,
|
||
Nijveldt R,
|
||
Kamsteeg EJ,
|
||
Dittrich ATM,
|
||
Draaisma JMT,
|
||
Janssen MCH,
|
||
van Engelen BGM,
|
||
Erasmus CE,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2023;10(6):1055-1074.
|
||
doi: 10.3233/JND-221673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37807786" target="_blank">37807786</a><a href="/pmc/articles/PMC10657684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36195450">Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franken DK,
|
||
Bouman K,
|
||
Reumers SFI,
|
||
Braun F,
|
||
Spillane J,
|
||
Pennings M,
|
||
Houwen SLS,
|
||
Erasmus CE,
|
||
Schara-Schmidt U,
|
||
Kamsteeg EJ,
|
||
Jungbluth H,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Nov 15;99(20):e2223-e2233.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1212/WNL.0000000000201084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36195450" target="_blank">36195450</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34043258">Inflammatory features in sporadic late-onset nemaline myopathy are independent from monoclonal gammopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanboon J,
|
||
Uruha A,
|
||
Arahata Y,
|
||
Dittmayer C,
|
||
Schweizer L,
|
||
Goebel HH,
|
||
Nishino I,
|
||
Stenzel W</span><br />
|
||
<span class="medgenPMjournal">Brain Pathol</span>
|
||
2021 May;31(3):e12962.
|
||
doi: 10.1111/bpa.12962.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34043258" target="_blank">34043258</a><a href="/pmc/articles/PMC8412091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33051934">Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guimarães-Costa R,
|
||
Fernández-Eulate G,
|
||
Wahbi K,
|
||
Leturcq F,
|
||
Malfatti E,
|
||
Behin A,
|
||
Leonard-Louis S,
|
||
Desguerre I,
|
||
Barnerias C,
|
||
Nougues MC,
|
||
Isapof A,
|
||
Estournet-Mathiaud B,
|
||
Quijano-Roy S,
|
||
Fayssoil A,
|
||
Orlikowski D,
|
||
Fauroux B,
|
||
Richard I,
|
||
Semplicini C,
|
||
Romero NB,
|
||
Querin G,
|
||
Eymard B,
|
||
Laforêt P,
|
||
Stojkovic T</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2021 Feb;28(2):660-669.
|
||
Epub 2020 Nov 21
|
||
doi: 10.1111/ene.14592.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33051934" target="_blank">33051934</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7818252">Late-onset mitochondrial myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston W,
|
||
Karpati G,
|
||
Carpenter S,
|
||
Arnold D,
|
||
Shoubridge EA</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1995 Jan;37(1):16-23.
|
||
doi: 10.1002/ana.410370106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7818252" target="_blank">7818252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Axial%20muscle%20weakness%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 (11)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1843697%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
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