Friedreich’s Ataxia

What is Friedreich’s ataxia?

Friedreich’s ataxia (FA) is a genetic neuromuscular disorder characterized by spinocerebellar degeneration. People with FA have gene mutations that limit the production of frataxin, which is an important protein that functions in the mitochondria (energy producing factories) of the cell. Additionally, in FA, specific nerve cells (neurons) degenerate, which is directly manifested in FA symptoms.

FA affects approximately 1 in 40,000 people. Childhood onset of FA is usually between the ages of 5 and 15, and is often associated with rapid progression. Late onset FA can occur anytime during adulthood.

FA symptoms may include:

  • loss of arm and leg coordination
  • fatigue
  • muscle loss
  • vision impairment
  • hearing loss
  • slurred speech
  • aggressive scoliosis (curvature of the spine)
  • diabetes mellitus
  • and a serious heart condition

The mental capabilities of people with FA are unaffected.

 

 

Useful Links

Canadian Association for Familial Ataxias
Friedreich’s Ataxia Parents’ Group

Forum for parents to share FA-related experiences and knowledge.

Friedreich’s Ataxia Research Alliance
National Ataxia Foundation (USA)

Dedicated to improving the lives of people affected by ataxia through support, education, and research.

Closing Keynote: Decisions!

A Youth in Action 2010 presentation by Kyle Bryant, who has FA. He has been cycling for the past several years to raise awareness and research funds for FA. Kyle’s blog

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