Autosomal recessive limb-girdle muscular dystrophy type 2I

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.

Also known as: FKRP autosomal recessive limb-girdle muscular dystrophy, LGMD-FKRP related, LGMD2I, MDDGC5, autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP, limb-girdle muscular dystrophy due to FKRP deficiency, muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5, muscular dystrophy-dystroglycanopathy (limb-girdle), type C5

14 clinical trials for this condition and its sub-types, 8 tagged with Autosomal recessive limb-girdle muscular dystrophy type 2I itself.