What Is Friedreich's Ataxia?

WHAT IS FRIEDREICH'S ATAXIA??


DESCRIPTION:

Friedreich's ataxia (FRDA, FA) is a rare, genetic, neuromuscular, degerative, 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. (This all depends on a host of factors.) The course of the disorder is progressive; gets more severe over time. Most young people diagnosed with FRDA require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s.




SYMPTOMS (varies with each affected person)
~ muscle weakness and loss of coordination (ataxia) in the arms and legs

~ vision impairment

~ hearing loss (sometimes called sensoneuro hearing impairment)

~ 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. (So take a moment to realize that before adjusting how you talk and react to FAer's) 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, depending on rate of progression. Many require surgery for their scoliosis. There are currently no treatments or cures.