AOA3 is a rare type of autosomal recessive cerebellar ataxia. Other disorders in this group include Spinocerebellar Ataxia, Autosomal Recessive 1, Ataxia with Oculomotor Apraxia Type 1, Ataxia-Telangiectasia and Ataxia-Telangiectasia-Like-Disorder. The disease is characterized by ataxia, dysmetria, peripheral neuropathy, areflexia, cerebellar atrophy, oculomotor apraxia and raised alpha-fetoprotein levels. Symptoms usually surface in the second decade of life and follow a highly rapid progression. Patients may hence become wheelchair-bound by the third or fourth decade of life. AOA3 has so far been diagnosed in only a single Saudi Arab family.
Diagnosis of the disorder is made based on a clinical investigation, the presence of cerebellar atrophy, and levels of alpha-fetoprotein. While the disorder cannot presently be cured, symptoms can be managed by physical therapy, speech therapy, mobility aids and special education.