Catalog

Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia

No MMS code

Link to WHO Definition

Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia – http://id.who.int/icd/entity/1071655898

Ataxia with oculomotor apraxia 1 (AOA1) is a neurological disorder belonging to the group of autosomal recessive cerebellar ataxias characterised by early onset gait ataxia (between 2 and 6 years of age), dysarthria, limb dysmetria (later in disease course), oculomotor apraxia, distal and symmetric muscle weakness and wasting, mild loss of vibration and joint position sense and slow progression.