In Focus: Friedreich's Ataxia

Article Highlights:

In addition to Fast Facts about FA, this series contains three additional sections, links to which can be found at the bottom of this page. These include:

  • Everything is Treatable, Even if Not Yet Curable — a Q&A with neurologist Susan Perlman who's been doing research in, and taking care of individuals with, FA for some 30 years
  • FA Helped Him Learn What's Important in Life — a profile of a man with FA
  • More About FA Online — a preview of the expanded In Focus report available in a printable PDF
by Quest Staff on January 1, 2011 - 4:25pm

QUEST Vol. 18, No. 1

Fast Facts

Friedreich’s ataxia (FA) is an inherited neurodegenerative disease affecting approximately one in every 50,000 people in the United States.

First described by German physician Nikolaus Friedreich in 1863, FA mainly affects the heart and nerve cells of the brain and spinal cord, as well as the peripheral nerves.

FA affects males and females equally. It typically manifests in the early teens but has been diagnosed in some as young as 2 years old and in others as old as 50.

Symptoms vary in onset and speed of progression, but typically include loss of balance and coordination (ataxia), and muscle weakness that begins in the legs and torso and spreads to the arms and hands. Some experience difficulty with speech and swallowing, muscle tightness (spasticity), loss of sensation and skeletal abnormalities. FA’s effects on the heart range from mild to life-threatening.

FA has a recessive inheritance pattern, requiring two gene flaws (one on each chromosome, each from one parent). An individual who has only one abnormal copy of the gene is a healthy asymptomatic carrier and can, in turn, pass on the affected gene to offspring.  

Since 1975, MDA has invested more than $12,056,711 in FA research. The Association’s current commitment through 2013 includes 10 grants totaling $2,030,758.

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