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Friedreich's Ataxia: General Information and Overview

Published: 2009-04-01 - Updated: 2017-06-08
Author: Sally Rider | Contact: Disabled World (
Peer-Reviewed Publication: N/A

Synopsis: Friedreich's Ataxia an inherited disease that causes progressive damage to the nervous system resulting in muscle weakness speech problems and heart disease.

Alternate Names: Friedreich's Disease, Friedreich's Tabes, Hereditary Ataxia-Friedreich's type, Hereditofamilial Spinal Ataxia


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Alternate Names: Friedreich's Disease, Friedreich's Tabes, Hereditary Ataxia-Friedreich's type, Hereditofamilial Spinal Ataxia

This article is from our digest of publications relating to Mobility Impairments that also includes:

Ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear as early as 18 months or as late as 30 years of age.

Symptoms of Friedreich's Ataxia May Include

The first symptom is usually difficulty in walking.

The ataxia gradually worsens and slowly spreads to the arms and then the trunk.

Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in) may be early signs.

Rapid, rhythmic, involuntary movements of the eyeball are common.

Most people with FRDA 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.

Diagnosis of FRDA

Diagnosis includes clinical examination, which includes a medical history and a thorough physical examination.

Several tests may be helpful, including nerve conduction studies, electromyogram (EMG), electrocardiogram, MRI, blood tests and urinalysis, and holter monitor.

Genetic testing can confirm the chromosomal abnormality that causes this disease. Evidence of positive gene testing and gait ataxia is necessary to determine the underlying gene abnormality that results in this disease to confirm the diagnosis of FRDA.


There is currently no effective cure or treatment for FRDA.

However, many of the symptoms and accompanying complications can be treated to help patients maintain optimal functioning as long as possible.

Diabetes and heart problems can be treated with medications.

Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs.

The FRDA gene is present at birth.

Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals become completely incapacitated.

Most people with FRDA die in early adulthood if there is significant heart disease, the most common cause of death. Some people with less severe symptoms live much longer.

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Cite This Page (APA): Sally Rider. (2009, April 1). Friedreich's Ataxia: General Information and Overview. Disabled World. Retrieved August 19, 2022 from

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