Conditions / Genetic
autosomal recessive limb-girdle muscular dystrophy type 2W
info · Genetic
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14.
Signs and symptoms
- Skeletal muscle atrophy
- Elevated circulating creatine kinase activity
- Talipes equinovarus
- Tetraparesis
- Muscular dystrophy
- Calf muscle hypertrophy
- Increased connective tissue
- Triangular tongue
- Reduced systolic function
- Macroglossia
Also known as: LGMD2W; muscular dystrophy, limb-girdle, type 2W