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Friedreich's ataxia

Friedreich's ataxia is an autosomal recessive congenital ataxia that occurs rarely in the human population. It is caused by a mutation in Gene X25 that codes for frataxin, located on chromosome 9. It is named after Nikolaus Friedreich, a German doctor who described the disease in 1863. more...

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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 (a trinucleotide repeat disorder). 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 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).

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Ataxia
From Gale Encyclopedia of Childhood and Adolescence, 4/6/01

Ataxia, an extreme lack of coordination of the muscles, is a symptom of damage to the central nervous system. People with ataxia typically stand with feet planted far apart, and sway while standing, struggling to maintain balance. Jerky eye and head movements are also commonly observed with ataxia. Ataxia may result from a number of causes, including damage to or diseases of the spinal cord or the cerebellum, a part of the brain; tumor on the spinal cord or in the cerebellum; infection affecting the central nervous system; response to poisons and toxins or other environmental factor that causes the central nervous system to stop functioning normally or to degenerate; disease that causes degeneration of the central nervous system, such as multiple sclerosis; or hereditary factors. Hereditary ataxia conditions are rare, and include Friedreich's ataxia, which usually appears between the ages of five and twenty. Friedreich's ataxia is a disabling condition that often causes premature death.

Further Reading

For Your Information

  • Gale Encyclopedia of Childhood & Adolescence. Gale Research, 1998.

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