/autosomal recessive limb-girdle muscular dystrophy type 2N

autosomal recessive limb-girdle muscular dystrophy type 2N

Rare Disease

MONDO:0013162

Also Known As

LGMD-POMT2 relatedLGMD2NMDDGC2POMT2 autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2muscular dystrophy-dystroglycanopathy limb-girdle POMT2-relatedlimb-girdle muscular dystrophy type 2Nmuscular dystrophy, limb-girdle, type 2Nmuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.