Olivopontocerebellar atrophy

Definition

Olivopontocerebellar atrophy is a disease that causes certain brain areas to shrink.

Alternative Names

Causes

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

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

Symptoms tend to start sooner in people with the familial form. This disease is slightly more common in men than in women.

Symptoms

Many symptoms are associated with olivopontocerebellar atrophy, but 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:

• Tremor
• Abnormal movements
• Abnormal eye movements
• Sexual function problems
• Bowel or bladder problems
• Muscle stiffness or rigidity
• Muscle spasms
• Nerve damage
• Difficulty swallowing

Exams and Tests

A thorough medical and neurological examination as well as a good history of symptoms and family history are necessary to make the diagnosis. There are no specific tests for this condition.

An MRI of the brain may show changes in the size of the brain structures. This is helpful in making the diagnosis, but lack of these findings 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 techniques to prevent choking, speech and physical therapy, and walking aids to help with balance and prevent falls.

Outlook (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.

Possible Complications

Complications may include injury from falls, choking, and aspiration pneumonia (infection following inhalation of food into the lungs), and nutrition problems due to difficulty swallowing.

When to Contact a Medical Professional

Call your health care provider if you have any symptoms of olivopontocerebellar atrophy. Referral to a neurologist is necessary.