Ataxia with oculomotor apraxia type 4

Ataxia with oculomotor apraxia is a condition characterized by problems with movement that worsen over time. The hallmark of this condition is poor coordination and balance (ataxia), which is often the first symptom.

Ataxia with oculomotor apraxia type 4 begins around age 4. In addition to ataxia and oculomotor apraxia, individuals with this type typically develop dystonia, which is involuntary, sustained muscle tensing that causes unusual positioning of body parts. Dystonia can be the first feature of the condition, and it tends to disappear gradually over time. Muscle wasting in the hands and feet and neuropathy are also common in individuals with type 4. In ataxia with oculomotor apraxia type 4, albumin levels can be low, and cholesterol or AFP can be elevated. However, the amounts of these molecules are normal in many affected individuals. Intelligence is usually not affected by ataxia with oculomotor apraxia, but some people with the condition have intellectual disability.

NIH genetic and rare disease info

• NIH info on Ataxia with oculomotor apraxia type 4

Ataxia with oculomotor apraxia type 4 is a rare disease.

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