autosomal recessive limb-girdle muscular dystrophy type 2A

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 the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.

Signs and symptoms

Elevated circulating creatine kinase activity
Muscle eosinophilia
Increased total eosinophil count
Gait disturbance
Flexion contracture
Scapular winging
Muscular dystrophy
Myositis
Proximal amyotrophy
Clumsiness

Also known as: LGMD2A; Leyden-Moebius muscular dystrophy; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb-girdle, type 2A; pelvofemoral muscular dystrophy