Conditions / Genetic
autosomal recessive limb-girdle muscular dystrophy type 2S
info · Genetic · ICD-10: G71.0
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Limb-girdle muscular dystrophy
- Intellectual disability
- Truncal ataxia
- Chorea
- Hyperkinetic movements
- Poor speech
- Inability to walk
- Strabismus
- Dystonia
Also known as: LGMD2S; muscular dystrophy, limb-girdle, type 2S