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Friedreich's Ataxia

Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include

People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery and physical therapy.

National Institute of Neurological Disorders and Stroke

Friedreich's Ataxia on Wikipedia

'''Friedreich's ataxia''' is rare, although it is one of the most common forms of autosome recessive ataxia. A genetic disorder caused by a mutation in Gene X25 that codes for frataxin, located on chromosome 9. It is named after Nikolaus Friedreich, a Germany doctor who described the disease in 1863. Delatycki et al. (2000) provided an overview of the clinical features, pathology, molecular genetics, and possible therapeutic options in Friedreich ataxia. Friedreich's ataxia and muscular dystrophy, though often compared, are completely different diseases. Muscular dystrophy is the result of muscle tissue degeneration whereas Friedreich's ataxia is the result of nervous tissue degeneration. Both are researched by the Muscular Dystrophy Association.

Symptoms

Symptoms begin sometime between the age of 5 to 15 years. The symptoms can include any combination, but not necessarily all of: * Muscle weakness in the arms and legs * Loss of coordination * Vision impairment * Hearing loss * Slurred speech * Curvature of the spine (scoliosis) * Carbohydrate intolerance * Extreme heart conditions (eg, Atrial fibrillation, and resultant tachycardia (fast heart rate) and cardiomyopathy (enlargement of the heart)) These symptoms are slow and progressive. Long-term observation shows that many patient's reach a plateau in symptoms in the patient's early adulthood. Because of many of these symptoms, a person suffering from Friedrich's Alaxia may require some surgical interventions (mainly for the spine and heart). As progression occurs, assistive devices such as a cane or walker or a wheelchair are required for mobility (independence).

External links

*[http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.205 NBCI Genes and Disease: Friedreich's ataxia] *[http://www.genetests.org/servlet/access?db=geneclinics&site=gt&id=8888892&key=RiUJpcnAjVaII&gry=&fcn=y&fw=FyvG&filename=/profiles/friedreich/index.html ...   [ Read More ]


External Resources

CajunHeart's HomePage - Living Life with Ataxia - Site about me living a positive life despite Friedreich's Ataxia.

Matthew Law - A personal web site about a life with Friedreich's Ataxia.

Friedreich's Ataxia Fact Sheet - A comprehensive resources guide and fact sheet about Friedreich's Ataxia, compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

GeneClinics: Friedreich Ataxia - An in depth look at this disorder. Includes a summary, diagnosing, molecular genetic testing, clinical description and management.

Living Life with Ataxia - An informative site about living a positive life in spite of having a progressive hereditary neurological disease called Friedreich's Ataxia.

NINDS Friedreich's Ataxia - An information sheet the National Institute of Neurological Disorders and Stroke .

NORD: Friedreich's Ataxia - Offers the synonyms, a general discussion and further resources.

Friedreich's Ataxia and I - The author was diagnosed with Friedreich's Ataxia when eight years old. Read about the trials and triumphs.

About Muscular Dystrophy - Personal page with muscular dystrophy links and other personal content by individual with a type of muscular dystrophy called Friedreich's Ataxia.

The Merck Manual: Disorders Of Movement - Information about cerebellar and spinocerebellar disorders. Includes a short discussion about friedreich's ataxia, cerebellar ataxias and multiple systems atrophy.


Related Pages on HealthTales.com:

Ataxia Telangiectasia
Friedreich ataxia
Ataxia-telangiectasia
Neuropathy, ataxia, and retinitis pigmentosa

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