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Friedreich ataxia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Friedreich ataxia

Friedreich ataxia is a rare genetic disorder that progressively impairs coordination, strength, and heart function. It is caused by mutations in the FXN gene that reduce frataxin production.

Overview

Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life‑threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine.

Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder between ages 5 and 15. Poor coordination and balance are

Frequently Asked Questions

Cardiac involvement is common, so an echocardiogram is performed at diagnosis and then annually (or more often if symptoms develop). Cardiac MRI can detect early fibrosis. If hypertrophic cardiomyopathy is found, treatment may include beta‑blockers, ACE inhibitors, or angiotensin‑II receptor blockers to reduce wall stress, plus regular rhythm monitoring for arrhythmias. In advanced cases, referral to a heart‑failure specialist and consideration of implantable devices are recommended.
The only FDA‑approved drug specifically for Friedreich ataxia is omaveloxolone (Skyclarys), which activates the Nrf2 pathway and has shown modest improvement in the 6‑minute walk test. Ongoing trials are evaluating gene‑replacement strategies (AAV‑FXN), frataxin‑mimetic molecules, and iron‑chelation agents. Patients should discuss enrollment with a neurologist at a specialized center, as many trials require specific GAA repeat lengths and cardiac stability.
The first clues often appear between ages 5‑15 and include clumsiness, frequent falls, difficulty walking on tip‑toes, and loss of balance when standing still. If a child also shows unexplained loss of sensation in the feet, a high‑arched foot (pes cavus), or a family history of early‑onset cardiomyopathy, clinicians usually order a blood test for GAA repeat expansion in the FXN gene.
While no lifestyle change can halt the genetic defect, regular low‑impact aerobic exercise (e.g., swimming, stationary cycling) helps maintain muscle strength and cardiovascular health. Physical therapy focused on balance, gait training, and stretching reduces contractures. A diet rich in antioxidants (berries, leafy greens) and adequate vitamin E may modestly support mitochondrial function, though evidence is limited. Avoid smoking and excessive alcohol, which can worsen cardiomyopathy.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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