Friedreich’s Ataxia

Friedreich’s ataxia (also called FA or FRDA) is an inherited disease that causes progressive damage to the nervous system. It can result in muscle weakness, speech difficulties, or heart disease.

The first symptom is usually difficulty with walking that gradually worsens and can spread to the arms and the trunk. Loss of sensation in the extremities may spread to other parts of the body.

Other symptoms include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich’s ataxia develop scoliosis (a curving of the spine to one side), which may require surgical intervention.

Friedreich’s ataxia may also lead to chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany the disease, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure.

The disease is named after the physician Nicholas Friedreich, who first described the condition in the 1860s. “Ataxia” refers to coordination problems and unsteadiness and occurs in many diseases and conditions.

Friedreich’s ataxia is marked by degeneration of nerve tissue in the spinal cord and of nerves that control arm and leg movement.

The spinal cord becomes thinner and nerve cells lose some of the myelin insulation that helps them conduct impulses.

Friedreich’s ataxia is rare; it affects about 1 in 50,000 people in the United States.

Males and females are affected equally. Symptoms usually begin between the ages of 5 and 15, but can appear as early as 18 months or as late as 30 years old.

Treatment and scientific developments

There is currently no effective cure or treatment for Friedreich’s ataxia. However, many of the symptoms and accompanying complications can be treated.

Studies show that frataxin is an important mitochondrial protein for proper function of several organs. Yet in people with FA, the amount of frataxin in affected cells is severely reduced.

This loss of frataxin may make the nervous system, heart, and pancreas particularly susceptible to damage from free radicals (produced when excess iron reacts with oxygen).

Researchers have tried to reduce the levels of free radicals using treatment with antioxidants. Initial clinical studies in Europe suggested that antioxidants like coenzyme Q10, vitamin E, and idebenone may offer limited benefit.

However, clinical trials in the United States have not revealed effectiveness of idebenone in people with Friedreich’s ataxia. More powerful modified forms of this agent and other antioxidants are in trials at this time.

Meanwhile, scientists also are exploring ways to increase frataxin levels and manage iron metabolism through drug treatments, genetic engineering, and protein delivery systems.

Resources

If you are looking for more information on Friedreich’s ataxia or have a specific question, our Information Specialists are available business weekdays, Monday through Friday, toll-free at 800-539-7309 from 9:00 am to 8:00 pm ET.

Additionally, the Reeve Foundation maintains a fact sheet on FA with resources from trusted Reeve Foundation sources. Check out our repository of fact sheets on hundreds of topics ranging from state resources to secondary complications of paralysis.

We encourage you to also reach out to Friedreich’s ataxia support groups and organizations, including:

• Friedreich’s Ataxia Parents Group, an online support organization for parents of children with FA. The group helps to limit the isolation many feel while raising children with degenerative diseases.
• Friedreich’s Ataxia Research Alliance (FARA) offers information on Friedreich’s ataxia and the related ataxias, including current research, as well as information for researchers, patients, families and caregivers. FARA also offers support and information for the newly diagnosed.
• National Ataxia Foundation (NAF) supports research into hereditary ataxia, with numerous affiliated chapters and support groups in the United States and Canada.
• National Organization for Rare Disorders (NORD) is committed to the identification and treatment of more than 6,000 rare disorders, including Friedreich’s ataxia, through education, advocacy, research and service.
• Muscular Dystrophy Association (MDA) offers news and information about neuromuscular diseases, including ataxias.