Catalog

Autosomal recessive ataxia with oculomotor apraxia type 1

No MMS code

Link to WHO Definition

Autosomal recessive ataxia with oculomotor apraxia type 1 – http://id.who.int/icd/entity/25270506

Autosomal recessive disorder characterized by development of progressive ataxia, oculomotor apraxia (difficulty moving eyes side to side), chorea and primary motor peripheral axonal neuropathy. Associated with a mutation in the APTX gene coding for aprataxin and is most common in Portugal and Japan.