Limb-girdle muscular dystrophy type 2A [Supplementary Concept]
An autosomal recessive form of muscular dystrophy primarily affecting the proximal muscles, resulting in difficulty walking. The age at onset varies, but typically occurs in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and CONTRACTURES. Mutations in the CAPN3 gene have been identified. OMIM: 253600
Date introduced: August 25, 2010
MeSH Unique ID: C535895
Heading Mapped to:
Entry Terms:
- Limb-girdle muscular dystrophy type 2
- Muscular dystrophy, pelvofemoral
- Muscular Dystrophy, Limb-Girdle, Type 2A
- Muscular Dystrophy, Limb-Girdle, Type 2
- LGMD2A
- LGMD2
- Calpainopathy
- Leyden-Moebius muscular dystrophy
- Myositis, Eosinophilic