Friedreich’s ataxia (FA) is a genetic disease that causes the nervous system to slowly weaken. Friedreich’s ataxia occurs in about one in 30,000 people and affects males and females equally.

Signs and Symptoms

Patients lose coordination in the arms and legs caused by the damage to the nerve tissue in the spinal cord (called ataxia). The ataxia gets worse over time. It typically starts in the legs, then advances to the arms, and then to the trunk. The disease can also cause an abnormal curvature of the spine known as scoliosis. Patients may also have fatigue, slurred speech, hearing loss and vision loss. Friedreich’s ataxia may also impact the heart. It most often affects the heart muscle (cardiomyopathy), which can result in heart failure.

Symptoms can begin at any age, but if they start in childhood, the disease often develops quicker. Patients will typically need to use a wheelchair within 15-20 years after symptoms appear.

Causes

Friedreich’s ataxia is inherited, or passed down through families, and is caused by abnormal changes in a gene known as frataxin (FXN). In Friedreich’s ataxia, there is less frataxin produced in the body. Frataxin helps the part of the cell that produces energy.

Diagnosis

The diagnosis of Friedreich’s ataxia is based on careful clinical examination, testing and genetic evaluation. Testing may include:

• Genetic testing – widely available and can be performed by our team
• CT scan, MRI – to look at the brain and spinal cord to rule out other neurologic conditions
• EMG – a test to evaluate the electrical activity of muscles and nerves
• ECG – records the motion of the heart muscle

Treatment

Treatment has focused on attempting to improve the part of the cell, called the mitochondria, that makes energy. Drug therapies have been used with mixed results.

Heart-Related Issues and Long-Term Outlook

The long-term prognosis in Friedreich’s ataxia is often determined by the amount of heart involvement. Heart failure is the cause of death in about 60 percent of patients with Friedreich’s ataxia. The Neuromuscular Cardiomyopathy Program at Cincinnati Children’s is very familiar with managing cardiac disease in Friedreich’s ataxia. We offer thorough diagnostic and cutting-edge treatment strategies targeted at heart function and management of heart failure.