/autosomal recessive limb-girdle muscular dystrophy type 2G

autosomal recessive limb-girdle muscular dystrophy type 2G

Rare Disease

MONDO:0011170

Also Known As

LGMD2GTCAP autosomal recessive limb-girdle muscular dystrophyTcap autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAPautosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcaplimb-girdle muscular dystrophy due to telethonin deficiencymuscular dystrophy, limb-girdle, autosomal recessive 7muscular dystrophy, limb-girdle, type 2Glimb-girdle muscular dystrophy, type 2G

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.