Friedreich's ataxia

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Friedreich's ataxia

Friedreich's ataxia (FRDA) is a rare inherited disease. The two main features of this disorder are:

• progressive loss of voluntary muscular coordination (ataxia)
• heart enlargement

Diagnosis is usually made between ages 8 and 15, and for most by age 25.

Friedreich's ataxia is an autosomal recessive genetic disorder, meaning the affected individual must inherit two altered genes - one from the mother and one from the father.

A gene called Frataxin (FXN), located on chromosome 9, is involved. Changes in the gene result in many extra copies of a DNA segment called a trinucleotide repeat (GAA). Individuals without Friedreich ataxia have anywhere from 8 to 30 copies of this GAA segment. Individuals with FRDA have as many as 1,000 copies. The more copies of GAA the individual has, the earlier the onset of the disease and the faster it progresses.

Incidence is 1 in 22,000-29,000 and risk factors include family history.

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