Preferred Label : Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia;
ICD-11 definition : Ataxia with oculomotor apraxia 1 (AOA1) is a neurological disorder belonging to the
group of autosomal recessive cerebellar ataxias characterized 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.;
ICD-11 synonym : Ataxia - oculomotor apraxia type 1;
Origin ID : 1071655898;
Currated CISMeF NLP mapping
Ataxia with oculomotor apraxia 1 (AOA1) is a neurological disorder belonging to the
group of autosomal recessive cerebellar ataxias characterized 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.
