Conditions / Genetic
autosomal recessive limb-girdle muscular dystrophy type 2Q
info · Genetic · ICD-10: G71.0
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.
Signs and symptoms
- Skeletal muscle atrophy
- Elevated circulating creatine kinase activity
- Generalized muscle weakness
- Flexion contracture
- Difficulty climbing stairs
- Muscular dystrophy
- Motor delay
- Gowers sign
- Lumbar hyperlordosis
- Proximal muscle weakness
Also known as: LGMD2Q; autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; muscular dystrophy, limb-girdle, type 2Q