Friedreich's Ataxia: A Progressive Neurological Disorder

By Jody Smith HERWriter

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Friedreich's Ataxia (FRDA) is a disorder which usually strikes during childhood or the teen years. FRDA affects one in 50,000 people in the United States.

FRDA is neurological which means something's wrong with the nervous system. The brain, spinal cord and nerves are not working together properly.

It is progressive, which means it gets worse as time goes on.

Friedreich's Ataxia is genetic which means it runs in families. The disease develops when the child inherits an affected gene from both parents. If only one gene is inherited the child will be a carrier, which means they won't develop the disease. But they can pass it on to their own children if the other parent is also a carrier.

Ataxia is lack of coordination in muscle movements resulting in wobbling and unsteadiness.

Initially walking is difficult (gait ataxia). Deformities like clubfoot or hammer toes are common. The feet might turn inward (inversion). The toes may bend involuntarily (flexion).

Eyes may move erratically (nystagmus). Hearing may dim. Speech can become slow and slurred.

The individual may experience chest pain, difficulty in breathing, and heart palpitations. FRDA is often accompanied by enlargement of the heart (cardiomyopathy) and cardiac failure. Fast heart rate (tachycardia) and heart block (impaired electrical impulses within the heart) are often present.

Some with Friedreich's Ataxia will have diabetes mellitus or carbohydrate intolerance. Many will develop curvature of the spine (scoliosis). Extreme cases of scoliosis will require surgery.

Gradually ataxia will increase and spread from the feet to the legs, to the arms and the trunk. Muscles weaken and waste, particularly in the feet and lower legs, and the hands. Hands and feet may lose sensation and this can spread through the body.

While the body experiences an inexorable decline however, the individual's cognitive capacity (ability to think) is not affected.

The effects of Friedreich's Ataxia varies widely from person to person. For many, muscle control and muscle strength diminish until they need a cane, a walker or a wheelchair.

The most extreme cases end in total incapacitation. Life may be shortened by degenerative symptoms. Death can come from the heart disease that is a frequent partner to FRDA.

However, not everyone with FRDA ends up in a wheelchair. Not everyone winds up incapacitated and helpless. These individuals face enormous challenges in their lives, but it is possible for those with less severe symptoms to live long and productive lives.

Resources:

What is Friedreich's Ataxia?
http://www.fortnet.org/fapg/faq.htm

What is Friedreichs Ataxia?
http://www.ataxia.ie/aboutataxia.htm

Facts About Friedreich's Ataxia (FA)
http://www.mda.org/publications/fa-fried.html

Mechanism For Potential Friedreich's Ataxia Drug Uncovered
http://www.medicalnewstoday.com/articles/165407.php

Freidreich's Ataxia Fact Sheet
http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm

Paralysis Resource Center: Friedreich's Ataxia
http://www.christopherreeve.org/site/c.mtKZKgMWKwG/b.4453211/k.C9E4/Friedreichs_Ataxia.htm

Visit Jody's website and blog at http://www.ncubator.ca and http://ncubator.ca/blogger

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.