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Spinal Cord Injury Paralysis Resource Center

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Friedreich's Ataxia

Friedreich's ataxia 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 in walking. Many persons with ataxia eventually use wheelchairs.

It 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 different diseases and conditions. In Friedreich’s ataxia, there is 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 insulation (myelin) that helps nerves conduct impulses.

Friedreich’s ataxia affects about 1 in every 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 age 30.

Early signs may include foot, involuntary bending of the toes, or foot inversion (turning in). Rapid, involuntary movements of the eyeball are common. Most people with Friedreich’s ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing.

Other symptoms include chest pain, shortness of breath, and heart palpitations. Doctors diagnose Friedreich’s ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Several tests may be performed, including electromyogram (EMG) and genetic testing.

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

Friedreich’s Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease has not been found may indicate new genetic changes (mutations) that occur spontaneously. Friedreich’s Ataxia results from mutations of a gene known as "X25, or frataxin, a protein that should normally be present in the nervous system, the heart, and the pancreas. The protein is severely reduced in people with Friedreich’s ataxia.

Studies indicate that patients have abnormally high levels of iron in their heart tissue and that the nervous system, heart, and pancreas may be particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen). Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to free radical damage. The discovery of the genetic mutation that causes Friedreich’s ataxia has added new impetus to research efforts on this disease.

 

Sources: National Institute of Neurological Disorders and Stroke, National Organization for Rare Disorders

A Reeve Foundation Fact Sheet on Friedreich's Ataxia (PDF)

Friedreich’s Ataxia Research Alliance (FARA)Features information on Friedreich’s Ataxia and related ataxias, research and support.

Friedreich's Ataxia Parents GroupAn online support organization for parents of children with FA. The group helps to limit the isolation many feel while raising children with degenerative diseases. This website provide a forum for parents to share experiences.

Muscular Dystrophy Association: Friedreich's Ataxia (FA)A primary source for news and information about neuromuscular diseases, including ataxias, MDA research and services for adults and children with neuromuscular diseases and their families. The site features a searchable database of our 230 MDA clinics and numerous publications.

MedlinePlus: Friedreich's AtaxiaMedlinePlus will direct you to information to help answer health questions. MedlinePlus brings together authoritative information from NLM, the National Institutes of Health (NIH), and other government agencies and health-related organizations. Preformulated MEDLINE searches are included in MedlinePlus and give easy access to medical journal articles. MedlinePlus also has extensive information about drugs, an illustrated medical encyclopedia, interactive patient tutorials, and latest health news.

National Ataxia Foundation (NAF)NAF supports research into hereditary ataxia, a group of neurological disorders which are chronic and progressive conditions affecting coordination. NAF has more than 45 affiliated chapters and support groups throughout the U.S. and Canada. The foundation strives to improve diagnosis and develop treatment models, locating families affected by ataxia or at risk for ataxia in order to offer information and education, and identify needs and services for referral.

The Spinal Cord Injury Information Network: Friedreich's AtaxiaThe Spinal Cord Injury Information Network at the University of Alabama at Birmingham is funded through federal grants to the UAB Rehabilitation Research and Training Center on Secondary Conditions of Spinal Cord Injury and the UAB Model SCI Center.

We MoveWE MOVE is a not-for-profit organization that utilizes creativity, innovation, and collaborative approaches to improve awareness, diagnosis, and management of movement disorders among people living with these conditions and the professionals who care for them.

Quality of Life Grants DatabaseFind resources within the PRC Quality of Life Grants Database. Search by Zip Code, State or an Entire Category.

Library Books and VideosFind resources within the PRC library catalog.

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The Reeve Foundation Paralysis Resource Center Information Specialists are reachable business weekdays, Monday through Friday, toll-free at 800-539-7309 from 9:00 am to 5:00 pm Eastern U.S. Time. International callers use 973-467-8270. You may also schedule a call or send a message online.

The information provided in the Paralysis Resource Center was supported by Cooperative Agreement number 1U59DD000838-01 from the Centers for Disease Control and Prevention (CDC). Its contents are solely the responsibility of the Reeve Foundation and do not necessarily represent the official views of the CDC.