/autosomal recessive limb-girdle muscular dystrophy type 2B

autosomal recessive limb-girdle muscular dystrophy type 2B

Rare Disease

MONDO:0009676

Also Known As

DYSF autosomal recessive limb-girdle muscular dystrophyLGMD2BLGMD3autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSFlimb-girdle muscular dystrophy due to dysferlin deficiencylimb-girdle muscular dystrophy type 2Blimb-girdle muscular dystrophy type 3muscular dystrophy, limb-girdle, autosomal recessive 2limb-girdle muscular dystrophy, type 2Bmuscular dystrophy, limb-girdle, type 2Bmuscular dystrophy, limb-girdle, type 3

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.