limb-girdle muscular dystrophy type 2S (LGMD2S)

Pathology

• limb-girdle muscular dystrophy

Genetics

• caused by mutations in TRAPPC11

Clinical manifestations

• proximal muscle weakness with childhood onset, resulting in gait ataxia & scapular winging
• s subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia & global developmental delay

Laboratory

• serum creatine kinase is increased

More general terms

• limb-girdle muscular dystrophy; Erb's muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/613158