Limb-girdle muscular dystrophy 2A, calpain-3 deficiency (Q86049)

Autosomal recessive limb girdle muscular dystrophy (LGMD) type 2A is a form of LGMD, a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved, and is characterised by a predominantly symmetric atrophic muscular dystrophy, with relatively rare muscle hypertrophy. Achilles tendon contractures may be an early sign, and contractures elsewhere may also be prominent. Pelvic girdle involvement and scapular winging are present and symptomatic from the onset.