Genetic Diseases

Friedreich’s Ataxia

By
Published on October 3, 2024
by

Friedreich’s ataxia is a progressive neuromuscular disease that causes uncoordinated movement, muscle weakness, balance problems, impaired speech, and frequently, heart abnormalities. Most treatments focus on symptom management, although a drug that slows progression was recently approved. There is no cure, and the disease considerably shortens life expectancy.

Overview

What Is Friedreich’s Ataxia?

Friedreich’s ataxia is an inherited disease that affects the nervous system, especially the spinal cord, peripheral nerves, and part of the brain called the cerebellum, as well as the heart. The disease is rare, affecting 1 in 50,000 people in the United States. It primarily causes issues with balance, coordination, and muscle function that get worse over time, leading to mobility issues. (“Ataxia” refers to a loss of muscle coordination.)

Signs and Symptoms of Friedreich’s Ataxia

For people with Friedreich’s ataxia, symptoms typically start between ages 5 and 15. Around a quarter of people with the condition have symptoms that begin after age 25 (late onset), and some don’t experience any symptoms until after age 40 (very late onset).

Signs and symptoms of Friedreich’s ataxia vary but can include the following:

  • Ataxia (uncoordinated movement and balance issues, particularly affecting walking)
  • Muscle weakness, especially in the limbs
  • Muscle stiffness
  • Reduced reflexes, particularly in the knees and ankles
  • Sensory loss, such as decreased sensitivity to touch and vibrations and impaired proprioception (perception of the body’s position in space)
  • Scoliosis (abnormal curvature of the spine)
  • Foot inversion (feet turn inward) and pes cavus (a pronounced arch of the feet)

  • Speech difficulties, including slurred and slowed speech
  • Difficulty swallowing
  • Diabetes
  • Involuntary eye movements

  • Vision and hearing impairment
  • Symptoms of hypertrophic cardiomyopathy (enlarged cardiac muscle), such as shortness breath, chest pain, and cardiac arrhythmia (abnormal heartbeat)
  • Fatigue

  • Low body mass index
  • Changes in urinary frequency or urgency
  • Osteoporosis (low bone density)
  • Sleep apnea
  • Depression and anxiety

Cause and Risk Factors of Friedreich’s Ataxia

While rare, Friedreich’s ataxia is the most common type of hereditary ataxia in the United States.

 It’s caused by changes in the FXN gene, which provides instructions for making a protein called frataxin. This protein is essential for the proper functioning of mitochondria, the energy-producing part of cells. The mutations cause affected cells to produce energy less effectively and to have a buildup of toxic by-products, producing oxidative stress.
Friedreich’s ataxia is a recessive genetic disorder, meaning that a person must inherit two copies of the nonworking gene (one from each parent) to develop the disease. Inheriting only one copy of the nonworking gene makes a person a carrier who can pass the change on to their children. An estimated 1 in 100 people in the United States are carriers of Friedreich’s ataxia.

You are more likely to have FXN gene mutations if you have white ancestry. Experts believe that the mutation was passed down from a common European ancestor.

How Is Friedreich’s Ataxia Diagnosed?

Diagnosing Friedreich’s ataxia involves a combination of a standard clinical evaluation; imaging tests; tests to assess your nerve, muscle, and heart function; and genetic tests.

During the evaluation, your healthcare provider will ask for information about your medical history, your family’s medical history, and the symptoms you’ve been experiencing. They will conduct a number of tests to look for any signs of Friedreich’s ataxia, such as issues with balance and proprioception (for example, asking you to walk down a hallway or touch your nose with your eyes closed), any loss of sensation, or a lack of reflexes.

Your provider may order these tests to aid in a Friedreich’s ataxia diagnosis:

  • Electromyogram
  • Nerve conduction tests
  • Electrocardiogram
  • Echocardiogram
  • Blood tests
  • MRI or CT scan of your brain and spinal cord
A genetic test, using a blood or saliva sample, is the only conclusive method to diagnose Friedreich’s ataxia. However, in up to 5 percent of people with Friedreich’s ataxia, genetic tests are unable to detect their specific FXN genetic change.

 Tests that look for nonworking frataxin protein can help confirm or exclude a diagnosis.

Treatment and Medication Options for Friedreich’s Ataxia

There is currently no cure for Friedreich’s ataxia. Treatment focuses on managing your symptoms and improving your quality of life to help you maintain your daily function and activities as long as possible.

In 2023, the U.S. Food and Drug Administration approved the first medication to treat people with Friedreich’s ataxia who are age 16 or older.

 The drug, called omaveloxolone (Skyclarys), slows the progression of the disease (but does not stop it), resulting in less physical impairment over time.

Other treatments can help manage specific symptoms:

  • Physical therapy to help with coordination, balance, and mobility
  • Braces or surgery to correct foot deformities and scoliosis
  • Occupational therapy to teach you how to adapt to your environment and maintain independence for longer
  • Speech and language therapy to address communication difficulties and issues with swallowing
  • Medications for conditions such as diabetes, pain, and heart problems
  • Support devices such as orthopedic shoes, canes, and wheelchairs

  • Hearing aids
  • Psychotherapy

Prevention of Friedreich’s Ataxia

Given that Friedreich’s ataxia is a genetic disease, there is currently no known way to prevent it. But researchers are investigating ways to stop the disease before symptoms begin, such as by silencing the abnormal FXN gene before it activates.

For prospective parents, genetic counseling and testing can help families determine if they are carriers and may pass the nonworking genes to their children.

Friedreich’s Ataxia Prognosis

Life expectancy in individuals with Friedreich’s ataxia varies greatly, but the overall prognosis is poor. People with Friedreich’s ataxia often must rely on wheelchairs by age 45 (usually 10 to 20 years after symptoms begin). They can live past age 60, but some research suggests that the average age of death is around 37, and most die from heart disease.

 However, it’s unclear what the average life expectancy will be now that omaveloxolone is available to help slow Friedreich’s ataxia progression.

Support for Friedreich’s Ataxia

Friedreich’s Ataxia Research Alliance

The alliance's goal is to treat and one day hopefully cure Friedreich’s ataxia by conducting and funding research, and hosting international scientific meetings. The organization is a source of information about Friedreich’s ataxia and supports people with Friedreich’s ataxia and their loved ones through community blogs, a newsletter, an app, educational events, local events like fundraisers, and a registry for those wishing to be notified about new clinical trials and studies.

National Ataxia Foundation

This foundation provides resources for individuals and families affected by Friedreich’s ataxia, including a wealth of information about the disease as well as various ways for people affected by Friedreich’s ataxia to communicate with one another, such as in support groups, in social media groups, and at events across the United States and internationally.

The Takeaway

Friedreich’s ataxia is a difficult condition that can significantly impact a person’s quality of life and shorten their lifespan. While there is no cure, new treatments, ongoing research, and supportive therapies offer hope for better management and improved outcomes. Given the progressive nature of the disease, early diagnosis and a multidisciplinary approach to care is crucial in helping individuals with Friedreich’s ataxia lead fulfilling lives.

Common Questions & Answers

Is Friedreich’s ataxia hereditary?
Yes, Friedreich’s ataxia is inherited in an autosomal recessive pattern, meaning you can only have it if both of your parents are carriers of a nonworking copy of the FXN gene.
Ataxia (impaired muscle coordination), which can cause balance problems, difficulty walking, and uncoordinated movements, is usually the first sign of Friedreich’s ataxia.
Heart disease is the leading cause of death in people with Friedreich’s ataxia. Most often, people develop hypertrophic cardiomyopathy, a condition in which the heart muscle thickens, affecting its ability to pump blood effectively.
There is no cure for Friedreich’s ataxia. While the prognosis is generally poor, a new treatment that slows the progression of the disease may help people with Friedreich’s ataxia live longer, possibly with less disability.

Resources We Trust

Meet Our Experts
See Our Editorial PolicyMeet Our Health Expert Network
Anna-Hurst-bio

Anna C.E. Hurst, MD, MS, FACMG

Medical Reviewer
Anna C. E. Hurst, MD, is a medical geneticist with board certification in clinical genetics and pediatrics. She is an associate professor in the department of genetics at University of Alabama at Birmingham (UAB) and an adjunct faculty member at the HudsonAlpha Institute for Biotechnology. Prior to medical school, she received a master’s degree in genetic counseling, which inspired her interest in the communication of genetic information to patients and families with rare diseases.

Dr. Hurst is a physician for the UAB Undiagnosed Disease program, Turner syndrome clinic, and general genetics clinic, and she provides hospital consultations for inpatients at UAB and Children’s of Alabama for general genetics and inborn errors of metabolism. She also is the medical geneticist for the Smith Family Clinic for Genomic Medicine in Huntsville, Alabama.

Hurst's research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs. She also has an interest in how the patient’s physical exam and facial features can be clues to a rare disease diagnosis (dysmorphology) and serves on the scientific advisory board of Facial Dysmorphology Novel Analysis. She has published over 45 peer-reviewed articles in the field of medical genetics, largely focused on the clinical delineation of rare disease phenotypes. She also serves as an associate editor for the American Journal of Medical Genetics.

Hurst is also passionate about education and serves as the program director of the UAB genetics residency programs (categorical, pediatrics-genetics, and internal medicine-genetics) and medical director of the UAB Genetic Counseling Training program. She is an officer with the Association of Professors in Human Medical Genetics.
See full bio

Joseph Bennington-Castro

Author

Joseph Bennington-Castro is a science writer based in Hawaii. He has written well over a thousand articles for the general public on a wide range topics, including health, astronomy, archaeology, renewable energy, biomaterials, conservation, history, animal behavior, artificial intelligence, and many others.

In addition to writing for Everyday Health, Bennington-Castro has also written for publications such as Scientific American, National Geographic online, USA Today, Materials Research Society, Wired UK, Men's Journal, Live Science, Space.com, NBC News Mach, NOAA Fisheries, io9.com, and Discover.

See full bio
See Our Editorial PolicyMeet Our Health Expert Network
EDITORIAL SOURCES
Everyday Health follows strict sourcing guidelines to ensure the accuracy of its content, outlined in our editorial policy. We use only trustworthy sources, including peer-reviewed studies, board-certified medical experts, patients with lived experience, and information from top institutions.
Resources
  1. Friedreich Ataxia. National Institute of Neurological Disorders and Stroke. July 19, 2024.
  2. Friedreich Ataxia. MedlinePlus. July 2, 2021.
  3. What Is FA? Friedreich’s Ataxia Research Alliance.
  4. Friedreich’s Ataxia (FRDA): Signs and Symptoms. Muscular Dystrophy Association.
  5. Friedreich Ataxia. Genetic and Rare Diseases Information Center. September 2024.
  6. Williams CT et al. Friedreich Ataxia. StatPearls. August 23, 2023.
  7. Friedreich’s Ataxia (FRDA): Diagnosis. Muscular Dystrophy Association.
  8. FDA approves first treatment for Friedreich’s ataxia. U.S. Food and Drug Administration. February 28, 2023.
  9. Slowing Friedreich Ataxia (FA) Progression With Skyclarys. Skyclarys.
  10. Managing Friedreich’s Ataxia. Friedreich’s Ataxia Research Alliance.