A 28-Year-Old Woman with Proximal Limb Weakness and Scapular Winging
Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive condition characterized by progressive proximal weakness in adolescents and young adults. This condition is caused by mutation in the CAPN3 gene that encodes for calpain-3, a muscle-specific protein that is involved in sarcomere remodeling. Diagnosis is made by genetic testing and can be supplemented by muscle biopsy. Treatment is supportive.
KeywordsLGMD2A Autosomal recessive Limb girdle muscular dystrophy Calpainopathy CAPN3