autosomal recessive limb-girdle muscular dystrophy type 2E

info · Genetic · ICD-10: G71.0

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.

Signs and symptoms

Elevated circulating creatine kinase activity
Loss of ambulation
Scapular winging
Muscular dystrophy
Proximal amyotrophy
Shoulder girdle muscle atrophy
Limb-girdle muscle weakness
Pelvic girdle muscle atrophy
Calf muscle pseudohypertrophy
Dilated cardiomyopathy

Also known as: Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2E