autosomal recessive limb-girdle muscular dystrophy type 2A

Rare Disease

MONDO:0009675

Also Known As

CAPN3 autosomal recessive limb-girdle muscular dystrophyLGMD2ALeyden-Moebius muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3autosomal recessive limb-girdle muscular dystrophy type 2Acalpainopathylimb-girdle muscular dystrophy due to calpain deficiencylimb-girdle muscular dystrophy type 2Amuscular dystrophy, limb-girdle, autosomal recessive 1muscular dystrophy, limb-girdle, type 2Apelvofemoral muscular dystrophyprimary calpainopathyLGMD2limb-girdle muscular dystrophy type 2muscular dystrophy limb girdle type 2A, erb typemuscular dystrophy, Pelvofemoralmuscular dystrophy, limb-girdle, type 2myositis, eosinophilic

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.