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<meta name="keywords" content="C1858127, finding, limb girdle weakness, limb-girdle muscle weakness, muscle weakness, limb-girdle, muscular weakness, limb-girdle, 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="Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Limb-girdle muscle weakness (Concept Id: C1858127)
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<!--
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UID=347625
|
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ConceptID=C1858127
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Limb-girdle muscle weakness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347625</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:">C1858127</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Limb girdle weakness; Muscle weakness, limb-girdle; Muscular weakness, limb-girdle</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:0003325">HP:0003325</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">Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. [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 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>
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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=C1858127[DISCUI]&test_type=Clinical" ref="ncbi_uid=347625">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347625" ref="ncbi_uid=347625">V</a></span></span><span class="TLline">Limb-girdle 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/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/870150" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature of the limbs">Abnormality of the musculature of the limbs</a></span><ul><li><span class="matched_ds">Limb-girdle muscle weakness</span><ul><li><span class="TLline"><a href="/medgen/96534" ref="tree=MeSH" title="MedGen record for Pelvic girdle muscle weakness">Pelvic girdle muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/1782499" ref="tree=MeSH" title="MedGen record for Hip adductor weakness">Hip adductor weakness</a></span></li><li><span class="TLline"><a href="/medgen/481355" ref="tree=MeSH" title="MedGen record for Hip flexor weakness">Hip flexor weakness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96533" ref="tree=MeSH" title="MedGen record for Shoulder girdle muscle weakness">Shoulder girdle muscle weakness</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
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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="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_98048"><div><strong>Emery-Dreifuss muscular dystrophy 2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98048</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.">C0410190</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/98048">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_332193"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2K</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332193</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.">C1836373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; impaired intellectual development and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without impaired intellectual development (type B; see MDDGB1, 613155). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C) Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (613158), caused by mutation in the POMT2 gene (607439); MDDGC3 (613157), caused by mutation in the POMGNT1 gene (606822); MDDGC4 (611588), caused by mutation in the FKTN gene (607440); MDDGC5 (607155), caused by mutation in the FKRP gene (606596); MDDGC7 (616052), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGC8 (618135), caused by mutation in the POMGNT2 gene (614828); MDDGC9 (613818) caused by mutation in the DAG1 gene (128239); MDDGC12 (616094), caused by mutation in the POMK gene (615247); MDDGC14 (615352) caused by mutation in the GMPPB gene (615320); and MDDGC15 (612937), caused by mutation in the DPM3 gene (605951).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332193">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324735"><div><strong>Myofibrillar myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324735</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.">C1837317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-2 (MFM2) is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869. 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/324735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340603"><div><strong>Myopathy, myosin storage, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340603</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.">C1850709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive myosin storage congenital myopathy-7B (CMYO7B) is a skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable, even within families. Most patients develop respiratory insufficiency, nocturnal hypoventilation, and restrictive lung disease; some develop hypertrophic cardiomyopathy. Additional features include myopathic facies, high-arched palate, scoliosis, and muscle wasting with thin body habitus. Serum creatine kinase may be normal or elevated. Skeletal muscle biopsy shows variable findings, including myosin storage disease, type 1 fiber predominance, centralized nuclei, and multiminicore disease (Onengut et al., 2004; Tajsharghi et al., 2007; Beecroft et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/340603">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347674"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347674</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.">C1858593</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Limb-girdle muscular dystrophies are characterized clinically by predominantly proximal muscle weakness of variable severity and dystrophic changes on muscle biopsy. LGMDR4 is in general a severe form of the disorder, with some patients developing symptoms before 8 years of age and losing the ability to ambulate in their second decade. Some patients have a milder course, with weakness evident in the teenage years and loss of walking ability in their fourth decade (summary by Lim et al., 1995 and Bonnemann et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347674">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_424706"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424706</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.">C2936332</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-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by Babameto-Laku et al., 2011). 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/424706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863621"><div><strong>Limb-girdle muscular dystrophy due to POMK deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863621</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.">C4015184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness and borderline intelligence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863621">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863889"><div><strong>Polyglucosan body myopathy type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863889</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.">C4015452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polyglucosan body myopathy-2 is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. Some patients also have involvement of the upper limbs and/or distal muscle weakness. The age at onset is highly variable, and the disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase (summary by Malfatti et al., 2014). For a discussion of genetic heterogeneity of PGBM, see PGBM1 (615895).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863889">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864034"><div><strong>Congenital myasthenic syndrome 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864034</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.">C4015597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myasthenic syndrome-14 (CMS14) is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864034">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1386785"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2P</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1386785</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.">C4511963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MDDGC9 is an autosomal recessive muscular dystrophy showing onset in early childhood. It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathies' (summary by Hara et al., 2011). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1386785">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1377325"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2T</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1377325</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.">C4518000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MDDGC14 is an autosomal recessive form of muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness. Some patients may have additional features, such as mild intellectual disability or seizures. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). Some patients with GMPPB mutations may show features consistent with a congenital myasthenic syndrome (see, e.g., CMS1A; 601462), such as fatigability and decremental compound muscle action potential response to repetitive nerve stimulation; these patients may show a positive therapeutic response to treatment with pyridostigmine (Belaya et al., 2015). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1377325">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1679560"><div><strong>Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1679560</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.">C5193223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is an autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function (summary by Gurgel-Giannetti et al., 2018)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1679560">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799561"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2X</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799561</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.">C5568138</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-25 (LGMDR25) is characterized by slowly progressive onset of proximal lower limb weakness in adulthood. Affected individuals also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life (summary by Schindler et al., 2016). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy (LGMD), see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799561">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841181"><div><strong>Nemaline myopathy 5B, autosomal recessive, childhood-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841181</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.">C5830545</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive childhood-onset nemaline myopathy-5B (NEM5B) is a skeletal muscle disorder in which patients usually present with proximal muscle weakness of the lower and upper limbs in a limb-girdle distribution, resulting in gait abnormalities; however, most remain ambulatory even into late adulthood. Some affected individuals show delayed motor development. There is axial weakness and atrophy of the paraspinal muscles, along with kyphosis, scoliosis, and rigid spine, as well as variable limitations of the large joints. Most patients develop restrictive respiratory insufficiency with decreased forced vital capacity; some need noninvasive ventilation. Serum creatine kinase may be elevated. Muscle biopsy can show variable features, including nemaline rods, multiminicore lesions, endomysial fibrosis, and myofibrillar changes (Pellerin et al., 2020; Lee et al., 2022). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1841181">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_424706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2D</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347674" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2E</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332193" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2K</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1386785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2P</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1377325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2T</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799561" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2X</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_864034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 14</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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb-girdle muscular dystrophy due to POMK deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1679560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, myosin storage, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 5B, autosomal recessive, childhood-onset</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyglucosan body myopathy type 2</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<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/26552645">Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsao CY</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2016 Jan;54:85-7.
|
||
Epub 2015 Nov 6
|
||
doi: 10.1016/j.pediatrneurol.2015.09.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26552645" target="_blank">26552645</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22limb-girdle%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/37974208">Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin F,
|
||
Yang K,
|
||
Lin X,
|
||
Jin M,
|
||
Chen L,
|
||
Zheng FZ,
|
||
Qiu LL,
|
||
Ye ZX,
|
||
Chen HZ,
|
||
Lin MT,
|
||
Wang N,
|
||
Wang ZQ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Nov 16;18(1):356.
|
||
doi: 10.1186/s13023-023-02897-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37974208" target="_blank">37974208</a><a href="/pmc/articles/PMC10652577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35741838">Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerino M,
|
||
González-Hormazábal P,
|
||
Abaji M,
|
||
Courrier S,
|
||
Puppo F,
|
||
Mathieu Y,
|
||
Trangulao A,
|
||
Earle N,
|
||
Castiglioni C,
|
||
Díaz J,
|
||
Campero M,
|
||
Hughes R,
|
||
Vargas C,
|
||
Cortés R,
|
||
Kleinsteuber K,
|
||
Acosta I,
|
||
Urtizberea JA,
|
||
Lévy N,
|
||
Bartoli M,
|
||
Krahn M,
|
||
Jara L,
|
||
Caviedes P,
|
||
Gorokhova S,
|
||
Bevilacqua JA</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Jun 16;13(6)
|
||
doi: 10.3390/genes13061076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35741838" target="_blank">35741838</a><a href="/pmc/articles/PMC9223019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33741225">Late onset Pompe Disease in India - Beyond the Caucasian phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Puri RD,
|
||
Setia N,
|
||
N V,
|
||
Jagadeesh S,
|
||
Nampoothiri S,
|
||
Gupta N,
|
||
Muranjan M,
|
||
Bhat M,
|
||
Girisha KM,
|
||
Kabra M,
|
||
Verma J,
|
||
Thomas DC,
|
||
Biji I,
|
||
Raja J,
|
||
Makkar R,
|
||
Verma IC,
|
||
Kishnani PS</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 May;31(5):431-441.
|
||
Epub 2021 Feb 16
|
||
doi: 10.1016/j.nmd.2021.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33741225" target="_blank">33741225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22918376">Myosinopathies: pathology and mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tajsharghi H,
|
||
Oldfors A</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2013 Jan;125(1):3-18.
|
||
Epub 2012 Aug 5
|
||
doi: 10.1007/s00401-012-1024-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22918376" target="_blank">22918376</a><a href="/pmc/articles/PMC3535372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16319331">Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pellegrini N,
|
||
Laforet P,
|
||
Orlikowski D,
|
||
Pellegrini M,
|
||
Caillaud C,
|
||
Eymard B,
|
||
Raphael JC,
|
||
Lofaso F</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2005 Dec;26(6):1024-31.
|
||
doi: 10.1183/09031936.05.00020005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16319331" target="_blank">16319331</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb-girdle%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 (26)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37974208">Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin F,
|
||
Yang K,
|
||
Lin X,
|
||
Jin M,
|
||
Chen L,
|
||
Zheng FZ,
|
||
Qiu LL,
|
||
Ye ZX,
|
||
Chen HZ,
|
||
Lin MT,
|
||
Wang N,
|
||
Wang ZQ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Nov 16;18(1):356.
|
||
doi: 10.1186/s13023-023-02897-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37974208" target="_blank">37974208</a><a href="/pmc/articles/PMC10652577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35741838">Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerino M,
|
||
González-Hormazábal P,
|
||
Abaji M,
|
||
Courrier S,
|
||
Puppo F,
|
||
Mathieu Y,
|
||
Trangulao A,
|
||
Earle N,
|
||
Castiglioni C,
|
||
Díaz J,
|
||
Campero M,
|
||
Hughes R,
|
||
Vargas C,
|
||
Cortés R,
|
||
Kleinsteuber K,
|
||
Acosta I,
|
||
Urtizberea JA,
|
||
Lévy N,
|
||
Bartoli M,
|
||
Krahn M,
|
||
Jara L,
|
||
Caviedes P,
|
||
Gorokhova S,
|
||
Bevilacqua JA</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Jun 16;13(6)
|
||
doi: 10.3390/genes13061076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35741838" target="_blank">35741838</a><a href="/pmc/articles/PMC9223019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32745073">Pompe disease: pathogenesis, molecular genetics and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taverna S,
|
||
Cammarata G,
|
||
Colomba P,
|
||
Sciarrino S,
|
||
Zizzo C,
|
||
Francofonte D,
|
||
Zora M,
|
||
Scalia S,
|
||
Brando C,
|
||
Curto AL,
|
||
Marsana EM,
|
||
Olivieri R,
|
||
Vitale S,
|
||
Duro G</span><br />
|
||
<span class="medgenPMjournal">Aging (Albany NY)</span>
|
||
2020 Aug 3;12(15):15856-15874.
|
||
doi: 10.18632/aging.103794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32745073" target="_blank">32745073</a><a href="/pmc/articles/PMC7467391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25075417">Limb-girdle muscle weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veitch D,
|
||
Valentino S,
|
||
Mouyis M,
|
||
Ciurtin C</span><br />
|
||
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
|
||
2014 Jun;75 Suppl 6:C86-91.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25075417" target="_blank">25075417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24488829">Muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsao CY</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2014 Feb;35(2):49-61; quiz 61.
|
||
doi: 10.1542/pir.35-2-49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24488829" target="_blank">24488829</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb-girdle%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 (40)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32248831">Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanherpe P,
|
||
Fieuws S,
|
||
D'Hondt A,
|
||
Bleyenheuft C,
|
||
Demaerel P,
|
||
De Bleecker J,
|
||
Van den Bergh P,
|
||
Baets J,
|
||
Remiche G,
|
||
Verhoeven K,
|
||
Delstanche S,
|
||
Toussaint M,
|
||
Buyse B,
|
||
Van Damme P,
|
||
Depuydt CE,
|
||
Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Apr 5;15(1):83.
|
||
doi: 10.1186/s13023-020-01353-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32248831" target="_blank">32248831</a><a href="/pmc/articles/PMC7133011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26552645">Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsao CY</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2016 Jan;54:85-7.
|
||
Epub 2015 Nov 6
|
||
doi: 10.1016/j.pediatrneurol.2015.09.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26552645" target="_blank">26552645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20817528">Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Capelle CI,
|
||
van der Beek NA,
|
||
Hagemans ML,
|
||
Arts WF,
|
||
Hop WC,
|
||
Lee P,
|
||
Jaeken J,
|
||
Frohn-Mulder IM,
|
||
Merkus PJ,
|
||
Corzo D,
|
||
Puga AC,
|
||
Reuser AJ,
|
||
van der Ploeg AT</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2010 Dec;20(12):775-82.
|
||
doi: 10.1016/j.nmd.2010.07.277.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20817528" target="_blank">20817528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1171391">Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapira Y,
|
||
Cederbaum SD,
|
||
Cancilla PA,
|
||
Nielsen D,
|
||
Lippe BM</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1975 Jul;25(7):614-21.
|
||
doi: 10.1212/wnl.25.7.614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1171391" target="_blank">1171391</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb-girdle%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34978387">Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang K,
|
||
Zheng Y,
|
||
Lin J,
|
||
Wu X,
|
||
Yu Y,
|
||
Zhu M,
|
||
Fang X,
|
||
Zhou M,
|
||
Li X,
|
||
Hong D</span><br />
|
||
<span class="medgenPMjournal">Brain Behav</span>
|
||
2022 Feb;12(2):e2469.
|
||
Epub 2022 Jan 3
|
||
doi: 10.1002/brb3.2469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34978387" target="_blank">34978387</a><a href="/pmc/articles/PMC8865156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25535305">Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deconinck N,
|
||
Richard P,
|
||
Allamand V,
|
||
Behin A,
|
||
Lafôret P,
|
||
Ferreiro A,
|
||
de Becdelievre A,
|
||
Ledeuil C,
|
||
Gartioux C,
|
||
Nelson I,
|
||
Carlier RY,
|
||
Carlier P,
|
||
Wahbi K,
|
||
Romero N,
|
||
Zabot MT,
|
||
Bouhour F,
|
||
Tiffreau V,
|
||
Lacour A,
|
||
Eymard B,
|
||
Stojkovic T</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2015 Dec;86(12):1337-46.
|
||
Epub 2014 Dec 22
|
||
doi: 10.1136/jnnp-2013-307245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25535305" target="_blank">25535305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23916420">Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaeta M,
|
||
Barca E,
|
||
Ruggeri P,
|
||
Minutoli F,
|
||
Rodolico C,
|
||
Mazziotti S,
|
||
Milardi D,
|
||
Musumeci O,
|
||
Toscano A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2013 Nov;110(3):290-6.
|
||
Epub 2013 Jul 9
|
||
doi: 10.1016/j.ymgme.2013.06.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23916420" target="_blank">23916420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16319331">Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Pellegrini N,
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Laforet P,
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Orlikowski D,
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Pellegrini M,
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Caillaud C,
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||
<span class="bold">PMID: </span><a href="/pubmed/16319331" target="_blank">16319331</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11166162">Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahjneh I,
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Marconi G,
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Bushby K,
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|
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<span class="bold">PMID: </span><a href="/pubmed/11166162" target="_blank">11166162</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb-girdle%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34978387">Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiang K,
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Zheng Y,
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Lin J,
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Wu X,
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Yu Y,
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Zhu M,
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Fang X,
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Zhou M,
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<span class="medgenPMjournal">Brain Behav</span>
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2022 Feb;12(2):e2469.
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||
Epub 2022 Jan 3
|
||
doi: 10.1002/brb3.2469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34978387" target="_blank">34978387</a><a href="/pmc/articles/PMC8865156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/34633329">Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siddiqui S,
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Polavarapu K,
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Bardhan M,
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Preethish-Kumar V,
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Joshi A,
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Nashi S,
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Vengalil S,
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Raju S,
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Chawla T,
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Leena S,
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Mathur A,
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Nayak S,
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Mohan D,
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Shamim U,
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Prasad C,
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Lochmüller H,
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Faruq M,
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Nalini A</span><br />
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<span class="medgenPMjournal">J Neuromuscul Dis</span>
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2022;9(1):95-109.
|
||
doi: 10.3233/JND-200628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34633329" target="_blank">34633329</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/33090613">Clinical and radiological profile of patients with spinal muscular atrophy type 4.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Souza PVS,
|
||
Pinto WBVR,
|
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Ricarte A,
|
||
Badia BML,
|
||
Seneor DD,
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||
Teixeira DT,
|
||
Caetano L,
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Gonçalves EA,
|
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Chieia MAT,
|
||
Farias IB,
|
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Bertini E,
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Oliveira ASB</span><br />
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<span class="medgenPMjournal">Eur J Neurol</span>
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2021 Feb;28(2):609-619.
|
||
Epub 2020 Nov 12
|
||
doi: 10.1111/ene.14587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33090613" target="_blank">33090613</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/32248831">Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Vanherpe P,
|
||
Fieuws S,
|
||
D'Hondt A,
|
||
Bleyenheuft C,
|
||
Demaerel P,
|
||
De Bleecker J,
|
||
Van den Bergh P,
|
||
Baets J,
|
||
Remiche G,
|
||
Verhoeven K,
|
||
Delstanche S,
|
||
Toussaint M,
|
||
Buyse B,
|
||
Van Damme P,
|
||
Depuydt CE,
|
||
Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2020 Apr 5;15(1):83.
|
||
doi: 10.1186/s13023-020-01353-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32248831" target="_blank">32248831</a><a href="/pmc/articles/PMC7133011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/16319331">Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pellegrini N,
|
||
Laforet P,
|
||
Orlikowski D,
|
||
Pellegrini M,
|
||
Caillaud C,
|
||
Eymard B,
|
||
Raphael JC,
|
||
Lofaso F</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2005 Dec;26(6):1024-31.
|
||
doi: 10.1183/09031936.05.00020005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16319331" target="_blank">16319331</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb-girdle%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 (16)</a></div></div>
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