This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Ataxia with oculomotor apraxia type 2 (AOA2) is a rare condition that affects muscle control and coordination. Ataxia (difficulty coordinating movements) is generally the earliest sign of the condition and is often diagnosed between age seven and 25 years. Other signs and symptoms may include sensorimotor neuropathy, mild cognitive impairment and less commonly, movement disorders. Approximately half of affected people also experience, oculomotor apraxia which makes it difficult to move the eyes from side-to side in the desired direction. AOA2 is caused by changes (mutations) in the SETX gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
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