Catalog

Choreoacanthocytosis

No MMS code

Link to WHO Definition

Choreoacanthocytosis – http://id.who.int/icd/entity/278069977

Chorea-acanthocytosis is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. These patients often exhibit feeding dystonia. The red cell chorein is absent and a mutation is CHAC gene is often responsible. CK (Creatine kinase) is often raised and patients may have neuropathy.