Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy 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.
Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD, LGMD2F, limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency, muscular dystrophy, limb-girdle, autosomal recessive 6, SGCD autosomal recessive limb-girdle muscular dystrophy — per MONDO