Chelsea's senior portrait  Jacob..Diagnosed in September 2011

What is Friedreich's Ataxia?

Description

Friedreich's ataxia (FRDA or FA) is a rare, genetic, neurodegenerative, multi-system, life-shortening disorder. About one in 50,000 people in the United States has Friedreich's ataxia. Onset of symptoms is usually between the ages of 5 and 15 (occasionally earlier and sometimes significantly later). FARA (Friedreich's Ataxia Research Alliance) is supporting research that will improve the quality and length of life for those diagnosed with Friedreich's ataxia and will lead to treatments that eliminate its symptoms.

Symptoms

  • progressive loss of coordination (ataxia) in the arms and legs
  • muscle weakness due to incoordination and atrophy
  • some vision impairment, hearing loss, and slurred speech
  • aggressive scoliosis (curvature of the spine)
  • diabetes mellitus or carbohydrate intolerance
  • a heart condition (enlarged heart - hypertrophic cardiomyopathy) that may or may not advance

These symptoms reflect the declining health of cells in certain parts of the nervous system; not everyone with FA has all of these symptoms. The mental capabilities of people coping with Friedreich's ataxia, however, remain intact. For most, progressive loss of muscle strength and control leads to increasing motor incapacitation and the use of a wheelchair, typically by the late teens or early twenties. Many require surgery for their scoliosis. There are currently no treatments or cures, although much research is in progress.

FARA-supported research and scientific conferences provide hope and accelerated research which is leading to treatments for people diagnosed with Friedreich's ataxia.

Inheriting Friedreich's Ataxia

Classical Friedreich's ataxia is inherited recessively; that is, a person develops the disorder only when he or she inherits affected genes from both parents. About 1 in 90 people of European ancestry carry the FA gene and most of them do not know it. There is a higher incidence of FA in the French / Acadian population of south Louisiana and some areas of Cyprus. In 1996, an international group of scientists - with cooperation and support from patients, patient families, and their physicians - identified the gene, cloned it, and decoded its sequence. The gene (called X25) was found on the 9th chromosome and carries the instructions for making a protein that was not previously known. The protein was named after the disorder and is called frataxin. For more detailed coverage of FA see the presentation by Dr. Grazia of the Mayo Clinic.

Portions printed with permission from Friedreich's Ataxia Research Alliance (FARA)


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