Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a (LGMD1A)

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Disease Ontology 12 DOID:0110300 ICD10 33 G71.0 Orphanet 59 ORPHA266 UMLS via Orphanet 74 C1834659

ICD10 via Orphanet 34 G71.0 MedGen 42 C1834659 MeSH 44 D049288 SNOMED-CT via HPO 69 288939007 40739000 249942005 282145008 274715008 607007 409622000 249940002 282195009 249902000 249939004 6077001 302929008 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 266Disease definitionAutosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a, also known as lgmd1a, is related to myopathy, myofibrillar, 3 and myopathy. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a is MYOT (Myotilin), and among its related pathways/superpathways is Focal Adhesion. Affiliated tissues include skeletal muscle and myeloid, and related phenotypes are dysphagia and elevated serum creatine phosphokinase

Disease Ontology : ¹² An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the gene encoding myotilin (MYOT1) on chromosome 5q31.

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a

Search GEO for disease gene expression data for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a.