Definition of Olivopontocerebellar atrophy:

Olivopontocerebellar atrophy is a disease that causes areas deep in the brain, just above the spinal cord, to shrink.

Causes, incidence, and risk factors:

Olivopontocerebellar atrophy can be passed down through families (inherited form), or it may affect people without a known family history (sporadic form).

Researchers have identified certain genes that are involved in the inherited form of this condition.

The cause of olivopontocerebellar atrophy in those without a history of the disease is not known. The disease slowly gets worse (is progressive).

This disease is slightly more common in men than in women. The average age of onset is 54 years old.

Symptoms:

Symptoms tend to start sooner at a younger age in people with the inherited form. The main symptom is clumsiness (ataxia) that slowly gets worse. There may also be problems with balance, slurring of speech, and difficulty walking.

Other symptoms may include:

• Abnormal eye movements
• Abnormal movements
• Bowel or bladder problems
• Difficulty swallowing
• Lightheadedness when standing
• Muscle spasms
• Muscle stiffness or rigidity
• Nerve damage (neuropathy)
• Tremor
• Sexual function problems

Signs and tests:

A thorough medical and neurological examination, as well as a symptom and family history, are needed to make the diagnosis.

There are no specific tests for this condition. An MRI of the brain may show changes in the size of affected brain structures, especially as the disease gets worse. This is helpful in making the diagnosis, but does not necessarily rule out the condition.

Other tests may be done to rule out other conditions. This may include swallowing studies to see if a person can safely swallow food and liquid.

Treatment:

There is no specific treatment or cure for this disease. Therapy is aimed at treating symptoms and preventing complications. This may include:

• Tremor medications, such as those used to treat Parkinson's disease
• Speech and physical therapy
• Techniques to prevent choking
• Walking aids to help with balance and prevent falls

Expectations (prognosis):

The disease slowly gets worse, and there is no cure. The outlook is generally poor. However, it may be years before someone becomes significantly disabled.

Complications:

• Choking
• Infection from inhaling food into the lungs (aspiration pneumonia)
• Injury from falls
• Nutrition problems due to difficulty swallowing

Calling your health care provider:

Call your health care provider if you have any symptoms of olivopontocerebellar atrophy. You will need a referral to a neurologist.