Friedreich’s Ataxia

Friedreich’s ataxia is an inherited genetic disorder of chromosome 9. It is a slowly progressive disorder of the nervous system and muscles, and results in the inability to control voluntary muscles (ataxia). It is inherited in an autosomal recessive manner, meaning that a child must inherit a copy of the defective gene from each parent in order to develop the disorder. Friedreich’s ataxia affects both males and females. About 1 in 90 people of European ancestry carries the gene for the disorder.

Symptoms

The symptoms of Friedreich’s ataxia usually begin between the ages of 5 and 15 years old, but it may start as early as infancy or as late as 30 years old. Typical symptoms include:
 

• muscle weakness in the legs, unsteadiness when standing, and difficulty walking
• loss of coordination (ataxia) in the arms and legs
• loss of sensations of touch and pressure in the arms and legs
• changes in vision, involuntary movements of the eye (nystagmus)
• difficulty speaking
• curvature of the spine (scoliosis) 

 
In addition, the individual with Freidreich ataxia is at risk of developing:

• weakening of heart muscle and enlargement of the heart (hypertrophic cardiomyopathy), chest pains, shortness of breath, abnormal heart rhythm
• diabetes 

Diagnosis

Diagnosis of Friedreich’s ataxia is based on the symptoms the individual is experiencing. Usually the earliest sign is weakness in the legs and unsteady standing or walking. A test of the electrical activity of muscles (electromyogram) may be done. A genetic test for the defect on chromosome 9 may also be done.

Treatment

There is at present no way to cure or reverse Friedreich’s ataxia. Treatment therefore focuses on the symptoms the person is having. Assistive devices for walking and standing may be used. Generally, about 15 to 20 years after diagnosis a wheelchair will be needed. Orthopedic surgery to correct scoliosis may be performed. Physical and occupational therapy can help maintain muscle strength and range of motion of the joints. Speech therapy can help with speaking and swallowing problems. Diabetes is treated with daily insulin.

Sources:
- "NINDS Friedreich's Ataxia Information Page." Disorders. 13 Feb 2007. National Organization for Neurological Disorders and Stroke. 28 Feb 2007 .
- "What is Friedreich's Ataxia?." FARA. Friedreich's Ataxia Research Alliance. 28 Feb 2007 .
- "Fact Sheet: Friedreich's Ataxia." MDA USA Specific Information. 11 Apr 2003. MDA USA. 28 Feb 2007 .

Credit : About.com

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