Health A-Z

Medical Content Created by the Faculty of the
Harvard Medical School

Friedreich's Ataxia

Symptoms

Because Friedreich's ataxia affects many organs, it can produce a variety of symptoms:

Neuromuscular symptoms involving the limbs include clumsy, shaking movements (ataxia) of the arms and legs, difficulty walking, paralysis of the leg muscles, difficulty moving the arms, and loss of sensation (especially vibration and sense of position) in the limbs.

Neurological problems include difficulty speaking (usually seen as a slow, hesitating speech pattern), rapid, involuntary, jerky movements of the eyeballs (nystagmus), reduced vision and hearing loss.

Bony deformities of the spine and feet (usually triggered by neuromuscular problems) include curvature of the spine (scoliosis), high-arched foot, clubfoot, deformities of the toes and foot inversion (foot turns inward).

Cardiac symptoms may include shortness of breath (especially with exertion), chest pain, abnormally rapid or irregular heartbeat, and symptoms of heart failure (leg swelling, difficulty breathing while lying flat, waking from sleep to urinate).

Symptoms of diabetes (in 10% of cases) include extreme thirst, frequent urination, weight loss, fatigue and blurry vision.

In most cases, people with a very high number of repetitions tend to develop the illness earlier than others. They also have more severe symptoms. People with a relatively low number of repetitions may not develop symptoms until age 30 or 40 and may not experience severe heart problems.