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All about Friedreich's ataxia causes of Friedreich's ataxia symptoms of Friedreich's ataxia diagnosis of Friedreich's ataxia treatment for Friedreich's ataxia

What causes Friedreich's ataxia?

There are many different causes for ataxia, ranging from inherited causes, infections, problems of the immune system to brain tumors and strokes. Chronic forms of ataxia are slowly progressive and are most often caused by a

neurodegenerative disease process with a genetic cause.

The gene for FA codes for a protein called frataxin. Normal frataxin is found in the cellular energy structures known as mitochondria, where it is thought to be involved in regulating the transport of iron. In FA, the frataxin gene on chromosome 9 is expanded with nonsense information known as a "triple repeat." This extra DNA interferes with normal production of frataxin, thereby impairing iron transport. Normally, there are 10-21 repeats of the frataxin gene. In FA, this sequence may be repeated between 200-900 times. The types of symptoms and severity of FA seems to be associated with the number of repetitions. Patients with more copies have more severe symptomatology. Researchers are still wrestling with how frataxin and the repeats on chromosome 9 are involved in causing FA. One theory suggests that FA develops in part because defects in iron transport prevent efficient use of cellular energy supplies.

The nerve cells most affected by FA are those in the spinal cord involved in relaying information between muscles and the brain. Tight control of movement requires complex feedback between the muscles promoting a movement, those restraining it, and the brain. Without this control, movements become uncoordinated, jerky, and inappropriate to the desired action.

More information on Friedreich's ataxia

What's Friedreich's ataxia? - Friedreich's ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination.
What causes Friedreich's ataxia? - There are many different causes for ataxia, ranging from inherited causes, infections, problems of the immune system to brain tumors and strokes.
What're the symptoms of Friedreich's ataxia? - Symptoms of Friedreich's ataxia include gait incoordination, foot deformities and walking up off the heels, muscle spasms and cramps.
How is Friedreich's ataxia diagnosed? - Diagnosis of Friedreich's ataxia involves a careful medical history and thorough neurological exam.
What's the treatment for Friedreich's ataxia? - There is no known cure for Friedreich's ataxia. Treatment is based on controlling symptoms and maintaining general health.
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