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Friedreich’s ataxia is a rare, inherited, degenerative disease that damages the spinal cord, peripheral nerves, and the cerebellum portion of the brain. It tends to develop in children and teens and gradually worsens 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.
Friedreich's ataxia is an inherited condition caused by a defect in a gene called FXN. It is a recessive genetic disorder. This means a person needs to inherit a copy of the gene defect from both parents to develop it.
Symptoms of Friedreich's ataxia typically start between ages 5 and 15, although they can develop later in life. Physical symptoms include:
These symptoms might be due to nerve damage or to the heart problems that tend to develop in people with this disease. Many people eventually develop scoliosis (a curving of the spine to one side) or foot deformities, which often require surgery. Some also develop diabetes.
Symptoms from Friedreich's ataxia tend to get worse over time.
To diagnose Friedreich's ataxia, doctors take you’re a medical history and perform a physical exam. Specific tests to diagnose this condition may include:
There is no cure for Friedreich's ataxia, but there are some potentially breakthrough treatments currently being studied.
Treatment focuses on minimizing symptoms and maintaining comfort and function for as long as possible. Options include braces to bolster the arms, legs, feet, or spine; physical therapy; speech therapy; occupational therapy; and surgery to correct skeletal problems.
Medications are needed if heart problems or diabetes develops.
Like other degenerative nervous system diseases, Friedreich's ataxia tends to progress over time, but the course can vary among different people. Treatment can often help limit symptoms and keep this condition under control for as long as possible.
As the disease progresses, it often leads to scoliosis — an abnormal curvature of the spine — or foot deformities, which might need to be treated with surgery.
It can also cause heart problems, due to weakened heart muscle and disturbances in the electrical system of your heart. Some people with this disease develop diabetes. It is important to follow your health care provider's recommendations to help limit the effects of these complications.
Because of the effects of Friedreich's ataxia on the nervous system and other organs, many people will need to be in a wheelchair within 10 to 20 years. Slurred speech, hearing loss, and visual impairment can occur as the disease progresses, as well. Some people might die from heart failure or other complications. However, some people live into their 70s or beyond.
In people with permanent physical impairments, physical therapy can be very important in helping maintain or increase strength and improve coordination. Another type of therapy is occupational therapy. This therapy teaches new ways of doing everyday tasks in spite of physical limitations. Speech therapy can also be helpful if speech is affected.
Finally, some people with physical disabilities can feel sad or depressed. Antidepressant medications and psychotherapy, or “talk therapy,” are both available to help treat depression.
If you have been diagnosed with Friedreich's ataxia, talk with your health care provider about when you might need to call them. They will likely advise you to call if you notice worsening of any symptoms or if you develop any new symptoms.
Tips to help you get the most from a visit to your health care provider:
Bayhealth is Southern Delaware’s healthcare leader with hospitals in Dover and in Milford. Bayhealth provides a wide range of medical services, including cardiovascular, cancer, orthopaedics and rehabilitation, pediatrics, respiratory care, sleep care, surgical weight loss and women’s services.