Friedreich's Ataxia Essay Example | Topics and Well Written Essays - 500 words

Friedreich's Ataxia - Essay Example Loss of frataxin in the system results in deregulation of iron levels in the mitochondria causing oxidative stress that kills the cells. This leads to a degeneration of the spinal cord, brain, and nerve communications to the muscles. Symptoms are generally manifested early in life between the ages of 5 and 25. Diagnosis is usually accomplished by observing symptoms and self-reporting of symptoms. Symptoms can include spinal curvature, impaired swallowing, deformed feet, and cardiomyopathy (impaired heart muscles). In addition, with the identification of the specific genes responsible, genetic testing can be done to accurately diagnosis the disease. A family history of Friedreich's Ataxia is also an indicator used in diagnosis. As with many of the ataxias, there is not a cure but there are regimens indicated to treat the specific symptoms. Treatment for Friedreich's ataxia generally requires the close cooperation of multiple physicians in several disciplines. The main overall goal for the patient is to remain in good health by a healthy diet and good physical exercise. Diabetes is often closely correlated with Friedreich's Ataxia and treatment consists of insulin. Further treatment is administered on an as needed basis. Propranolol, a beta blocker, may be prescribed to control muscle spasms.