Outpatient Therapies Physicians Special Programs Patient Conditions Rehabilitation Orthopaedics

 
 

Kernan Hospital

Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

Ask Our Experts

Get answers to your specific medical questions from Kernan Hospital experts.

Note: This is for informational purposes only. Doctors cannot provide a diagnosis via e-mail.

 

Related Content

Kernan Hospital

Our Services

Patient Success Stories

Our Doctors

Friedreich's ataxia - Overview

Alternative Names

Spinocerebellar degeneration

Definition of Friedreich's ataxia:

Friedreich's ataxia is a rare disease passed down through families (inherited) that affects the muscles and heart.

Causes, incidence, and risk factors:

Friedreich's ataxia is caused by a defect in a gene called Frataxin (FXN), which is located on chromosome 9. Changes in this gene cause the body to produce too much of part of DNA called trinucleotide repeat (GAA). Normally, the body contains about 8 to 30 copies of GAA. Those with Individuals with Friedreich's ataxia have as many as 1,000 copies. The more copies of GAA a patient has, the earlier in life the disease starts and the faster it gets worse.

Friedreich's ataxia is an autosomal recessive genetic disorder. This means you must get a copy of the defective gene from both your mother and father.

About 1 in every 22,000-29,000 develop this disease. Family history of the condition raises your risk.

  • Reviewed last on: 12/12/2006
  • Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.
Physicians Special Programs Patient Conditions Physical Therapy