/autosomal recessive limb-girdle muscular dystrophy type R18

autosomal recessive limb-girdle muscular dystrophy type R18

Rare Disease

MONDO:0014144

Also Known As

LGMD2STRAPPC11 autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11autosomal recessive limb-girdle muscular dystrophy type 2Smuscular dystrophy, limb-girdle, autosomal recessive 18muscular dystrophy, limb-girdle, type 2Slimb-girdle muscular dystrophy type 2S

Definition

A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.