Catalog

Chorea due to Neurodegeneration with brain iron accumulation type 1

No MMS code

Link to WHO Definition

Chorea due to Neurodegeneration with brain iron accumulation type 1 – http://id.who.int/icd/entity/299607071

Chorea occurring in the setting of neurodegeneration with brain iron accumulation, which is an autosomal recessive disorder caused by a mutation in the gene encoding pantothenate kinase 2 (PANK2). Characterized predominantly by motor corticospinal signs (spasticity, hyperreflexia, Babinski signs) and extrapyramidal symptoms (rigidity, dystonia, and choreoathetosis) with onset in late childhood, and is slowly progressive in nature.