Friedreich's Disease; Friedreich's Tabes; Hereditary Ataxia-Friedreich's type; Hereditofamilial Spinal Ataxia; Friedreich Ataxia; FA

Friedreich's Ataxia (FRDA) is an inherited neurodegenerative disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. 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.

Diagnostic testing: Diagnosis of FRDA may be confirmed by:

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  Nerve conduction studies;

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  Electromyogram (EMG);

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  Electrocardiogram (EKG);

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  Magnetic Resonance Imaging (MRI);

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  Blood tests and urinalysis; and

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  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.

Physical findings:

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  Ataxia (lack of voluntary coordination of muscle movements);

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  Foot deformities, such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in);

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  Nystagmus (rapid, rhythmic, involuntary movements of the eyeball);

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  Scoliosis (a curving of the spine to one side);

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  Chest pain;

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  Shortness of breath; and

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  Heart palpitations.

ICD-9: 334.0

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.

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.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Genetic testing for the FRDA gene; and

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  Clinical evaluation with history and complete neurological examination.

Suggested Listings for Evaluation:

REMARKS