Friedreich Ataxia: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Friedreich Ataxia?
A neurologist (a doctor who treats brain and nerve conditions) usually leads care for Friedreich ataxia. A cardiologist (a heart doctor) is often involved too, because the condition can affect the heart. People with it should be treated by a team of professionals. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Friedreich ataxia?
Friedreich ataxia is a rare, inherited disorder that causes progressive damage to the nervous system. It can cause movement and sensory symptoms and trouble with walking.
The part of the brain that coordinates balance and movement, called the cerebellum, is most affected. Although rare, it is the most common form of hereditary ataxia in the United States.
It is estimated to affect 1 in 40,000 people in the United States.
Symptoms
Symptoms typically begin between the ages of five and 15, although they sometimes appear after age 25. Poor coordination and balance are often the first noticeable features. Symptoms may include:
- Awkward, unsteady movements and poor muscle coordination (ataxia) that get worse over time.
- Difficulty walking and poor balance.
- Loss of feeling in the arms and legs.
- Slow, slurred speech.
- Curving of the spine to one side (scoliosis).
- Trouble swallowing.
- Hearing and vision loss.
- Foot problems, such as hammer toe and high arches.
It may also cause heart disease, specifically cardiomyopathy (a disease of the heart muscle). This can lead to heart failure or heart rhythm problems. It may also cause diabetes. Progression varies from person to person.
Causes and who gets it
Friedreich ataxia is caused by a change (mutation) in a gene called FXN. This gene carries the code for a protein called frataxin. Frataxin is needed for the proper function of mitochondria, the energy-producing part of a cell.
In people with the condition, a short piece of DNA called a GAA repeat appears far too many times. This disrupts how much frataxin the body makes.
The condition is inherited in an autosomal recessive pattern. Anyone who inherits two changed copies of the FXN gene, one from each parent, will develop the disease. A carrier has only one changed copy and will not develop the disease, but could pass the change to their children.
How doctors diagnose it
Genetic testing can give a conclusive diagnosis. A diagnosis should also include a medical history and a thorough physical exam. The doctor looks for trouble with balance, loss of feeling, and absent reflexes. The doctor also checks for other nerve problems.
Other tests may help with diagnosis or care. These include an electromyogram (EMG), which measures the electrical activity of muscle cells, and nerve conduction studies, which measure how fast nerves send signals. They also include heart tests such as an EKG and an echocardiogram, an ultrasound picture of the heart. Blood tests can check for high glucose (blood sugar) and vitamin E levels seen in the condition.
MRI or CT scans can show thinning of the spinal cord and cerebellum. They also help rule out other nerve conditions.
Treatment
In 2023, the US Food and Drug Administration approved the first medication for this condition. It is called omaveloxolone, and it is for people 16 years of age or older.
There is currently no cure. However, many symptoms and complications can be treated or managed to help people keep function and daily activities as long as possible.
Doctors can prescribe treatments for diabetes, if present. Some heart problems can be treated with medicine.
Foot deformities and scoliosis can be corrected with braces or surgery. Physical therapy may help a person keep the use of their arms and legs for longer. Speech and language therapists can help with swallowing and speech problems. Hearing aids can help with hearing loss linked to the condition.
When to see a doctor
Contact your health care provider if symptoms occur, especially if the disorder runs in your family.
Heart disease is the most common cause of death in people with the condition, so heart symptoms matter. Call 911 or go to the emergency room if you have chest pain or discomfort lasting for two minutes or more, trouble breathing, or fainting.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can do a first evaluation, order early tests, and refer you to a neurologist. They can also help coordinate your care team over time.
Common questions
Is Friedreich ataxia inherited?
Yes, Friedreich ataxia is inherited. A person must inherit two changed copies of the FXN gene, one from each parent, to develop it. Genetic testing can show whether a person is a carrier.
Is there a cure for Friedreich ataxia?
No, there is currently no cure. A medicine called omaveloxolone was approved in 2023 for people 16 and older, and many symptoms can be treated.
When does Friedreich ataxia start?
It typically starts between ages five and 15. Sometimes it starts after age 25. Later-onset forms usually progress more slowly.
Does Friedreich ataxia affect the heart?
Yes, it can. Heart disease is the most common cause of death in people with the condition.
Can people with Friedreich ataxia live into older age?
Yes, some can. Some people with less severe Friedreich ataxia live into their sixties or older. Progression varies from person to person.
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Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
