Friedreich’s Ataxia

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 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.)e60dc2a1-f33c-4a05-9b50-8e3e8e59762968e59d1a-732c-49f6-8f76-deeb2fe27d16
Signs and Symptoms of Friedreich’s Ataxia Symptoms 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).e60dc2a1-f33c-4a05-9b50-8e3e8e59762915d93f0e-2676-4986-a351-e0b272ffe392 Signs and symptoms of Friedreich’s ataxia vary but can include the following:e60dc2a1-f33c-4a05-9b50-8e3e8e597629eb897935-1cb1-431b-b7d6-cf156a692bc3 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)e60dc2a1-f33c-4a05-9b50-8e3e8e5976292150ca8d-9bfa-4955-b070-a2009bd79261 Speech difficulties, including slurred and slowed speech Difficulty swallowing Diabetes Involuntary eye movementse60dc2a1-f33c-4a05-9b50-8e3e8e5976296c3ba85f-9658-493b-8aae-7aa01159f8c9 Vision and hearing impairment Symptoms of hypertrophic cardiomyopathy (enlarged cardiac muscle), such as shortness breath, chest pain, and cardiac arrhythmia (abnormal heartbeat) Fatiguee60dc2a1-f33c-4a05-9b50-8e3e8e5976290cc715a2-b6e4-42fd-a28c-e086d908501d 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 Causes While rare, Friedreich’s ataxia is the most common type of hereditary ataxia in the United States.e60dc2a1-f33c-4a05-9b50-8e3e8e59762974a1e266-419c-4ad7-9a11-7d13286c9dbe 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.e60dc2a1-f33c-4a05-9b50-8e3e8e597629d54e5f56-0ee9-4e47-af2a-133ab89d9d35 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.e60dc2a1-f33c-4a05-9b50-8e3e8e597629f8ca3586-332e-4477-8986-01df009f20e4
How Is Friedreich’s Ataxia Diagnosed? Diagnosis 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.e60dc2a1-f33c-4a05-9b50-8e3e8e59762997795353-47e8-45f1-a061-fae86caac040 Your provider may order these tests to aid in a Friedreich’s ataxia diagnosis:e60dc2a1-f33c-4a05-9b50-8e3e8e5976298eae514f-043c-46ee-819c-bea13d08899a 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.e60dc2a1-f33c-4a05-9b50-8e3e8e5976297360093c-4ed2-412a-b603-01893f972c80 Tests that look for nonworking frataxin protein can help confirm or exclude a diagnosis.e60dc2a1-f33c-4a05-9b50-8e3e8e59762976a1979c-2470-4e9d-ba7e-5800c87dd121
Treatment and Medication Options for Friedreich’s Ataxia Treatment 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.e60dc2a1-f33c-4a05-9b50-8e3e8e5976299abede74-5642-40a3-bae1-cc16583f33aa The drug, called omaveloxolone (Skyclarys), slows the progression of the disease (but does not stop it), resulting in less physical impairment over time.e60dc2a1-f33c-4a05-9b50-8e3e8e5976299f9f901c-b58f-4c04-a9fc-b8cb304cbea4 Other treatments can help manage specific symptoms:e60dc2a1-f33c-4a05-9b50-8e3e8e597629ca605434-717e-44ad-ad8d-ed1cbf3979a6 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 wheelchairse60dc2a1-f33c-4a05-9b50-8e3e8e597629bf601641-8619-4f03-8be8-46724bd6b142 Hearing aids Psychotherapy
Prevention of Friedreich’s Ataxia Prevention 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.e60dc2a1-f33c-4a05-9b50-8e3e8e597629b42d0a03-ca17-4820-94d5-bf1485fb2b65 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 Prognosis and Outlook 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.e60dc2a1-f33c-4a05-9b50-8e3e8e59762930385755-e88c-40f2-bdd6-b4e6d9b919a5 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 Support 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.
Resources We Trust Mayo Clinic: Clinical Trials for Friedreich’s AtaxiaCleveland Clinic: Tips for Day-to-Day Living With Friedreich’s AtaxiaNational Ataxia Foundation: Ask the Ataxia ExpertFriedreich’s Ataxia Research Alliance: Steps to Take After a New Diagnosis of FAMuscular Dystrophy Association: Friedreich’s Ataxia Research

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