/autosomal recessive limb-girdle muscular dystrophy type 2C

autosomal recessive limb-girdle muscular dystrophy type 2C

Rare Disease

MONDO:0009677

Also Known As

DMDA1LGMD2CMaghrebian myopathySCARMDSGCG autosomal recessive limb-girdle muscular dystrophyautosomal recessive Duchenne-like muscular dystrophy type 1autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCGautosomal recessive limb-girdle muscular dystrophy type 2Cdeficiency of sarcoglycan gammagamma-sarcoglycanopathylimb-girdle muscular dystrophy due to gamma-sarcoglycan deficiencymuscular dystrophy, limb-girdle, autosomal recessive 5muscular dystrophy, limb-girdle, type 2Csevere childhood autosomal recessive muscular dystrophy North African typeAdhalin deficiency, secondaryDmdaDuchenne-like muscular dystrophy, autosomal recessive, type 1limb-girdle muscular dystrophy with gamma-sarcoglycan deficiencylimb-girdle muscular dystrophy, type 2Cmuscular dystrophy, Duchenne-likesarcoglycan, gamma, deficiency ofsevere childhood autosomal recessive muscular dystrophy, North African type

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.