Friedreich Ataxia Detailed Information

Posted: Sep 10, 2008 | Comments: 0 | Views: 23 | Bookmark and Share

Friedreich's Ataxia is a gradually progressive disorder of the nervous system and muscles. This condition is caused by degeneration of nerve tissue in the spinal cord and of nerves that expand to peripheral areas such as the arms and legs. Friedreich's ataxia is the most common inherited ataxia, affecting about 1 in 50,000 people in the United States. Males and females are affected equally. The first symptom to show is usually difficulty in walking, or gait ataxia. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Foot deformities such as clubfoot, flexion of the toes, hammer toes, or foot inversion may be early signs.

Over time, muscles start to weaken and waste away, especially in the feet, lower legs, and hands and deformities develop. In 85% of cases, symptoms develop before age 25, but rarely before age 5. Other symptoms comprise loss of tendon reflexes, especially in the knees and ankles. There is frequently a gradual loss of sensation in the extremities, which may spread to other parts of the body. Dysarthria (slowness and slurring of speech) develops, and the person is simply fatigued. Additional symptoms that may arise include chest pain, shortness of breath, and heart palpitations.

These symptoms are the consequence of different forms of heart disease that frequently accompany Friedreich's ataxia, such as cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. There is no method to right or eliminate the extra repetitions that cause Friedreich's ataxia. Treatment focuses on relieving symptoms, keeping the condition from getting inferior and prolonging life.

Treatment to lower blood sugar comprises a modified diet, together with oral ant diabetic drugs or insulin. Medications for heart disease drugs include beta-blockers, such as metoprolol, and calcium channel blockers, such as verapamil. Antioxidant stuffs, such as vitamin E, coenzyme Q10, and idebenone may potentially delay disease progression. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy and occupational therapy also involve of treatment of Friedreich ataxia. Assistive Technology, such as a standing frame, can assist diminish the secondary complications of prolonged utilize of a wheelchair.

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