Adult onset ataxia with oculomotor apraxia

Overview

Type of disease: Genetic, autosomal recessive | Rare Condition or Disease

Adult onset ataxia with oculomotor apraxia is a disease that effects the bodies ability to control movements and gets worse over time. Oculomotor apraxia, which is loss of eye movement control, is one of the most noticeable symptoms. Other symptoms of the disease include balance problems, slurred speech, tremors and loss of coordination in the arms, eye muscle paralysis, and problems with nerve function. This condition can first be seen anytime between the ages of 3 and 30 years old.

Adult onset ataxia with oculomotor apraxia is a genetic condition caused by mutations (changes) in the SETX gene. We inherit our genes in pairs, one from each parent typically. This condition is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one-in-four chance (25%) of having the disease.

This condition is typically diagnosed based on clinical findings, family history, and genetic testing to look for changes in the SETX gene. Treatment may include physical therapy for problems resulting from nerve damage, educational support to help with difficulties in reading and writing, and the use of a wheelchair, which is usually necessary for mobility by the age of 30.

If you or a family member has been diagnosed with adult onset ataxia with oculomotor apraxia, talk to your doctor about the most current treatment options. Support groups are also a good source of information.

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