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Friedreich Ataxia

Definition

Friedreich ataxia is a rare inherited disease that causes progressive damage to the nervous system. It is caused by a defect in the FXN gene that produces the protein frataxin. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability. Research suggests that cells that have a reduced level of frataxin produce energy less effectively, which may lead to a buildup of toxic byproducts.

Symptoms typically appear between ages 5 and 15 years but can begin in adulthood. Damage to the peripheral nerves and the cerebellum (part of the brain that coordinates balance and movement) results in awkward, unsteady movements and impaired muscle coordination (ataxia) that worsens and eventually spreads to the arms and the trunk of the body.

Other symptoms include loss of sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected. Many people with Friedreich ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Some individuals may develop diabetes.

Prognosis

Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair. In later stages of the disease, individuals may become completely incapacitated. Friedreich ataxia can shorten life expectancy, and heart disease is the most common cause of death. Many individuals with Friedreich ataxia die in early adulthood, but some people with less severe symptoms live into their 60s or older.

Treatment

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

Rehabilitative therapy (physical, occupational, and vocational) can help individuals become as functionally independent as possible.  Hearing impairments can be helped with hearing aids.

Source: https://www.ninds.nih.gov/

March 28, 2019
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