Ataxia-oculomotor apraxia type 4

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Ataxia-oculomotor apraxia type 4

Synonyms: AOA4

A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs ataxia oculomotor apraxia and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy decreased vibratory sensation and areflexia and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Ataxia-oculomotor apraxia type 4?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.