A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.
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epidermolysis bullosa simplex 5B, with muscular dystrophy
MONDO:0009181
autosomal recessive limb-girdle muscular dystrophy type 2A
MONDO:0009675
autosomal recessive limb-girdle muscular dystrophy type 2B
MONDO:0009676
autosomal recessive limb-girdle muscular dystrophy type 2C
MONDO:0009677
autosomal recessive limb-girdle muscular dystrophy type 2H
MONDO:0009683
autosomal recessive limb-girdle muscular dystrophy type 2F
MONDO:0011028