Autosomal recessive limb-girdle muscular dystrophy type 2A

MONDO:0009675

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.

Also known as: CAPN3 autosomal recessive limb-girdle muscular dystrophy, LGMD2A, Leyden-Moebius muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3, autosomal recessive limb-girdle muscular dystrophy type 2A, calpainopathy, limb-girdle muscular dystrophy due to calpain deficiency, limb-girdle muscular dystrophy type 2A

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