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Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease. It is named after the German physician Nicholaus Friedreich, who first described the condition in the 1860s. "Ataxia," which refers to coordination problems such as clumsy or awkward movements and unsteadiness, occurs in many different diseases and conditions. The ataxia of Friedreich's ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath the insular covering on all nerve cells that helps conduct nerve impulses.
Friedreich's ataxia, although rare, is the most prevalent inherited ataxia, affecting about 1 in every 50,000 people in the United States. Males and females are affected equally.
Friedreich's ataxia is an autosomal recessive congenital ataxia and is caused by a mutation in Gene X25 that codes for frataxin, located on chromosome 9.
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 caused by a trinucleotide repeat expansion mutation. Both are researched by the Muscular Dystrophy Association.
Symptoms
Symptoms begin sometime between the ages of 5 to 15 years and include any combination, but not necessarily all of the following:
- 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 (e.g., 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 patients reach a plateau in symptoms in the patient's early adulthood. Because of many of these symptoms, a person suffering from Friedrich's Ataxia may require some surgical interventions (mainly for the spine and heart). Often a metal rod is inserted in the spine to help prevent or slow the progression of scoliosis. As progression occurs, assistive devices such as a cane or walker or a wheelchair are required for mobility (independence).
See also
External links
- NIH Friedreich's Ataxia Fact Sheet
- FARA What is Friedreich's Ataxia?
- Asks the Experts - Responses: Friedreich's Ataxia
- Friedreich's Ataxia Enters 'the Treatment Era'
- NBCI Genes and Disease: Friedreich's ataxia
- GeneReviews: Friedreich ataxia
Friedreich-Ataxie | Ataxie de Friedreich | אטקסיית פרידרייך | Friedreich ataxia | Choroba Friedreicha
"Friedreich's ataxia"