Patient education: Friedreich ataxia (The Basics)

What is Friedreich ataxia? — 

This is a rare disease that damages the brain, spinal cord, and other nerves. It causes movement problems. "Ataxia" means problems with muscle control.

Friedreich ataxia also damages the heart and other organs. It is a serious disease that gets worse over time. It is caused by an abnormal gene, and almost always runs in families.

What are the symptoms of Friedreich ataxia? — 

Symptoms often begin slowly. Over many years, initial symptoms can get worse and new symptoms can happen.

Symptoms can include:

●Problems with arms and legs – A person might:

•Not be able to move their arms and legs the way they want to

•Stumble, or walk unsteadily

•Have trouble feeling where their feet are on the floor

•Have twitching or shaking legs

●Eye problems – Some people have trouble seeing. Their eyes might also make jumping movements, called "nystagmus."

●Hearing loss

●Trouble swallowing

●Slurred speech

●Loss of bladder control

●Foot problems, such as very high arches and bent toes

●Scoliosis – This is when the spine is curved sideways, like the letter "C." The spine also twists, so 1 side of the back sticks up more than the other.

Friedreich ataxia usually causes a heart condition called "hypertrophic cardiomyopathy." This is when the muscle in the heart gets too thick (figure 1). The heart has trouble pumping blood as well as it should. There might be heart rhythm problems as well.

Some people with Friedreich ataxia get type 1 diabetes. This is a disease that changes the way the 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 begin slowly, the doctor might not know right away if you have it. 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 the body. This can help your doctor make sure another problem is not causing your symptoms.

How is Friedreich ataxia treated? — 

There is no cure, but doctors can treat the symptoms. Treatments include:

●Regular check-ups with doctors who treat nerve and muscle problems, heart problems, and diabetes – You will likely see many different doctors for check-ups and tests.

●Medicine – Sometimes, doctors prescribe a medicine called omaveloxolone (brand name: Skyclarys). This might help you function better or slow down the disease for a while.

●Physical and occupational therapy – These can help with balance and movement problems and doing your daily activities.

●Devices that help with walking and movement – These include a wheelchair, walker, or other devices.

●Counseling – Talking with a counselor can help you cope with your symptoms.

●Genetic counseling – This can help explain how the disease runs in families.

More on this topic

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)