Friedreich’s ataxia (FA) is a rare, inherited, progressive disease of the nerves and muscles. Named after the German scientist who first described it, FA causes loss of control of body movements (ataxia). It typically begins in childhood or adolescence and gets worse with age. The first sign of FA is usually difficulty walking due to the loss of voluntary coordination of leg muscles. A person with FA will usually need a wheelchair within 10 years of symptoms beginning, may be completely incapacitated by middle age, and may have a shortened lifespan.
What causes FA?
People who develop FA have inherited defective copies of a gene that codes for frataxin (FXN), a protein that is important for the proper functioning of nerve and muscle cells. The defect confuses the code in a way that reduces the production of frataxin. The result is damage to the nerves that carry signals from the muscles to the brain.
In order for a child to develop FA, they must inherit two copies of the defective gene, one from each parent. In most cases, neither parent shows signs of FA, so they are often not aware that the disease runs in the family.
How does FA affect the body?
FA begins in the lower body, then spreads to the upper body including the arms and hands, and then the trunk. The genetic defect that causes nerve damage and muscle incoordination also affects the eyes, hearing, and speech. Other problems associated with FA include severe abnormal curvature of the spine (scoliosis), heart disease, and diabetes. FA does not affect intelligence.
Loss of coordination and muscle weakness causes problems with balance, making a person unsteady and prone to falls. Weak throat muscles can cause slurred speech and swallowing difficulties. Nerve damage can also cause involuntary eye movements and hearing loss. People with FA frequently experience fatigue, low endurance, and muscle stiffness. Many people with FA eventually develop heart disease, which can cause shortness of breath, chest pain, and abnormal heart rhythms. Up to 20% of patients also develop diabetes.
How is FA treated?
No cure currently exists for FA, so treatment consists of managing symptoms. Walking aids, wheelchairs, and physical or occupational therapy can help with mobility and muscle strength. Medications can control some symptoms of heart disease. Insulin or glucose-lowering drugs may control diabetes, and surgery can correct spine curvature or foot deformities. Speech therapy and emotional counseling may also be helpful.
The search for better treatments is ongoing, with many research trials underway, some attempting to uncover details about what causes FA, and others looking at new treatments.
Note: Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.