What is Friedreich ataxia? — Friedreich ataxia is a rare disease that damages the brain, spinal cord, and other nerves. It causes movement problems. “Ataxia” is the word doctors use for problems with muscle control.
Friedreich ataxia also damages the heart and other organs. It is a serious disease that gets worse over time. It almost always runs in families.
What are the symptoms of Friedreich ataxia? — Symptoms of Friedreich ataxia often come on slowly. Over many years, initial symptoms can get worse and new symptoms can happen.
When they happen, symptoms can include:
●Problems with arms and legs – A person with Friedreich ataxia might:
•Not being able to move the arms and legs the way he or she wants to
•Stumble or walk unsteadily
•Have trouble feeling where the feet are on the floor
•Have twitching or shaking legs
●Eye problems – These can happen if Friedreich ataxia affects the main nerve in the eye, called the “optic nerve.”
●Loss of bladder control
●Foot problems, such as very high arches and bent toes
●Scoliosis – This is a spine that curves sideways, like the letter “C.” The spine also twists so one side of the back sticks up more than the other.
Friedreich ataxia usually causes a heart condition called “hypertrophic cardiomyopathy.” This condition causes the muscle in the heart to get too bulky (figure 1). The heart has trouble pumping blood as well as it should.
Some people with Friedreich ataxia get type 1 diabetes (sometimes called type 1 “diabetes mellitus”). This is a disease that changes the way your body uses sugar.
Is there a test for Friedreich ataxia? — Yes and no. The doctor might be able to tell if you have it by learning about your symptoms and doing an exam. But because the symptoms can come on slowly, the doctor might not know right away if you have it. You should tell your doctor if anyone in your family has Friedreich ataxia.
If the doctor thinks you might have Friedreich ataxia, he or she can order a blood test to check your genes. Most people with Friedreich ataxia have an abnormal gene, but not everyone does.
How is Friedreich ataxia treated? — There is no cure for Friedreich ataxia, but doctors can treat the symptoms. Treatments include:
●Regular checkups with doctors who treat nerve and muscle problems, heart problems, and diabetes – A person with Friedreich ataxia will usually see many different doctors for checkups and tests.
●Physical and occupational therapy – These can help with balance and movement problems and doing daily activities.
●Devices that help with walking and daily activities – These include a wheelchair, walker, or other devices.
●Counseling – Talking with a counselor can help a person with Friedreich ataxia cope with a disease that gets worse over time.
●Genetic counseling – This can help explain how the disease runs in families.