Friedreich’s ataxia is a neurologic disorder that impacts a person’s ability to walk along with other health complications.
Friedreich’s ataxia (FRDA) is a neurodegenerative disorder that causes progressive loss of large sensory neurons and spinocerebellar tracts. Typical onset is in childhood or adolescence with mean age at onset about 10–15 years, although onset can range from early childhood to adulthood and later onset is generally associated with slower progression. Early features include gait instability and clumsiness followed by dysarthria (slurred speech), loss of deep tendon reflexes in the lower limbs, distal sensory loss, and progressive limb and trunk ataxia; nonneurologic manifestations frequently include hypertrophic cardiomyopathy, scoliosis, diabetes mellitus, and pes cavus (high arches on the feet). Disease progression leads to loss of ambulation in many individuals over time and increased morbidity from cardiac disease; prognosis correlates with age at onset and GAA repeat length. Management is multidisciplinary and supportive with attention to cardiology surveillance and treatment, scoliosis monitoring, diabetes care, physical therapy, and consideration of clinical trials for disease-modifying therapies.
FRDA is caused by pathogenic (disease-causing) variants or enlarging of the FXN gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
Friedreich’s Ataxia Research Alliance
Written October 2025
