Friedreich’s ataxia (FA) is a degenerative disease that damages your spinal cord, peripheral nerves, and the cerebellum portion of your brain. A genetic disorder causes the condition. FA tends to gradually worsen over time. Unsteady, awkward movements and a loss of sensation due to nerve injury develop as the disease progresses. The condition is named after Nicholaus Friedreich, the German doctor who discovered it in the 1800s. Ataxia means impaired muscle movement.
Symptoms of FA typically start between ages 5 and 15, although they can develop later in life. You may experience a variety of physical symptoms, including:
A loss of sensation that starts in the legs and spreads to the arms and trunk
Loss of reflexes
Slow or slurred speech
Shortness of breath
Who’s at risk
FA is very rare. The National Institutes of Health estimates that about one in every 50,000 Americans has FA. The disease is inherited, so you would need to receive the gene defect from your parents to develop it. Both males and females are at risk.
A diagnosis of FA usually starts with a physical exam to check your reflexes, balance, and nerve sensation. You may also need blood tests, imaging scans such as an MRI (magnetic resonance imaging) or a CT (computed tomography), and nerve conduction studies that use electrical impulses to check the activity of your nerves. Genetic testing can identify the defective gene causing the disorder.
There is no cure for FA, but there are some potentially breakthrough treatments currently in clinical trials. Your health care provider will focus on minimizing your FA symptoms and keeping you comfortable and functioning for as long as possible. Options include braces to bolster your arms, legs, feet, or spine; physical therapy; and surgery. If you develop heart problems or diabetes, common complications of FA, you will probably need medication.
As FA progresses, it often leads to scoliosis — an abnormal curvature of the spine. FA can also cause heart problems, due to weakened heart muscle and disturbances in the electrical system of your heart. About 10 to 20 percent of people with FA develop diabetes. Very often, within 10 to 20 years of your first FA symptoms, you will need a wheelchair. Slurred speech, hearing loss, and visual impairment can become very debilitating as the disease progresses, as well. Early death from heart failure or other complications is common with FA. However, some people live into their 70s or beyond.
When to call the doctor
There is no cure for FA. However, if your doctor diagnoses the disease at an early stage, he or she will be able to treat your symptoms and help improve your quality of life. If you notice any of the symptoms mentioned, such as loss of sensation, difficulty walking, keeping your balance, or a loss of reflexes, ask your doctor about FA.