Ataxia with oculomotor apraxia 1 (AOA1) is a neurological disorder belonging to the group of autosomal recessive cerebellar ataxias (see this term). Prevalence is unknown. AOA1 is 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. Some patients show dystonia, masked facies or mental retardation. Laboratory studies show a motor and sensory axonal neuropathy, mild loss of large myelinated axons, cerebellar and brainstem atrophy on MRI and hypoalbuminemia.
Last update: September 2003