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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. It is caused by an abnormal gene.
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 they want 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."
●Hearing loss
●Trouble swallowing
●Slurred speech
●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. There may be heart rhythm problems as well.
Some people with Friedreich ataxia get type 1 diabetes. This is a disease that changes the way your body uses sugar.
Is there a test for Friedreich ataxia? — Yes. 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, since it runs in families.
If the doctor thinks you might have Friedreich ataxia, they can order a blood test to check for the abnormal gene that causes it. Another blood test checks for a specific protein found in people with Friedrich ataxia.
Your doctor might also order an MRI of your brain and spinal cord. An MRI is an imaging test that creates pictures of the inside of your body. This can help your doctor make sure another problem is not causing your symptoms.
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.
Patient education: Hypertrophic cardiomyopathy in adults (The Basics)
Patient education: Type 1 diabetes (The Basics)
Patient education: Hypertrophic cardiomyopathy (Beyond the Basics)
Patient education: Type 1 diabetes: Overview (Beyond the Basics)