/autosomal recessive limb-girdle muscular dystrophy type 2J

autosomal recessive limb-girdle muscular dystrophy type 2J

Rare Disease

MONDO:0012127

Also Known As

LGMD2JTTN autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in TTNmuscular dystrophy, limb-girdle, autosomal recessive 10muscular dystrophy, limb-girdle, type 2Jlimb-girdle muscular dystrophy type 2J

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.