Catalog

Autosomal recessive muscular dystrophy, childhood type, resembling Duchenne muscular dystrophy

No MMS code

Link to WHO Definition

Autosomal recessive muscular dystrophy, childhood type, resembling Duchenne muscular dystrophy – http://id.who.int/icd/entity/412357697

Severe childhood autosomal recessive muscular dystrophy is a rare condition characterised by early-onset muscular dystrophy with a severe, Duchenne-like progression, affecting both sexes equally. It refers to a genetically heterogeneous group of disorders in which different molecular and biochemical defects present with a similar phenotype. Most patients with severe childhood autosomal muscular dystrophy have defects in one of the four sarcoglycan genes identified to date.