What is Friedreich's Ataxia?

Description
Friedreich's ataxia (FRDA) is a rare, genetic, neurodegenerative, multi-system, life-shortening disorder. About one in 50,000 people in the United States have Friedreich's ataxia. Onset of symptoms is usually between the ages of 5 and 15, sometimes even earlier and sometimes significantly later. FARA 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

• muscle weakness and loss of coordination (ataxia) in the arms and legs
• vision impairment, hearing loss, and slurred speech
• aggressive scoliosis (curvature of the spine)
• diabetes mellitus or carbohydrate intolerance
• a serious heart condition (enlarged heart — hypertrophic cardiomyopathy)

These symptoms reflect the death of cells in certain parts of the nervous system. The mental capabilities of people coping with Friedreich's ataxia, however, remain completely intact. For most, progressive loss of muscle strength and control leads to motor incapacitation and the full-time use of a wheelchair by the late teens or early twenties. Many require surgery for their scoliosis. There are currently no treatments or cures.

The course of the disorder is progressive. Most young people diagnosed with FRDA require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s.

FARA-supported research and scientific conferences provide hope and accelerate research leading to treatments or cure for people diagnosed with Friedreich's ataxia and for those coping with the related Sporadic Ataxias.

Inheriting Friedreich's Ataxia
Friedreich's ataxia is inherited recessively; that is, a person develops the disorder only when he or she inherits genes from both parents. About 1 in 90 people of European ancestry carry the FRDA gene and most of them do not know it. There is a higher incidence of FRDA in the French / Acadian population of south Louisiana. 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.

Additional detail on FRDA genetics and the disease mechanism can be found in A Message for Newly Diagnosed Patients and Their Families.

Printed with permission from:

FRIEDREICH’S ATAXIA RESEARCH ALLIANCE (FARA)
P.O. Box 1537
Springfield, VA  22151
Tel: (703) 426-1576

Email: fara@cureFA.org 
Web site: http://www.cureFA.org