/autosomal recessive limb-girdle muscular dystrophy type 2F

autosomal recessive limb-girdle muscular dystrophy type 2F

Rare Disease

MONDO:0011028

Also Known As

delta-sarcoglycanopathyLGMD2FSGCD autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCDlimb-girdle muscular dystrophy due to delta-sarcoglycan deficiencymuscular dystrophy, limb-girdle, autosomal recessive 6limb-girdle muscular dystrophy type 2Fmuscular dystrophy limb-girdle with delta-sarcoglyan deficiencymuscular dystrophy, limb-girdle, type 2F

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.