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Genetics Home Reference: your guide to understanding genetic conditions
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Friedreich ataxia

Reviewed May 2010

What is Friedreich ataxia?

Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis).

Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder around puberty. Poor balance when walking and slurred speech are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear.

About 25 percent of people with Friedreich ataxia have an atypical form that begins after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.

How common is Friedreich ataxia?

Friedreich ataxia is estimated to affect 1 in 40,000 people. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups.

What genes are related to Friedreich ataxia?

Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene.

In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. People with GAA segments repeated fewer than 300 times tend to have a later appearance of symptoms (after age 25) than those with larger GAA trinucleotide repeats. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.

Related Gene(s)

Changes in this gene are associated with Friedreich ataxia.

  • FXN

How do people inherit Friedreich ataxia?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Friedreich ataxia?

These resources address the diagnosis or management of Friedreich ataxia and may include treatment providers.

  • Friedreich's Ataxia Research Alliance: Medical Care (http://www.curefa.org/message.html)
  • Gene Review: Friedreich Ataxia (http://www.ncbi.nlm.nih.gov/books/NBK1281)
  • Genetic Testing Registry: Friedreich ataxia 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1856689)
  • MedlinePlus Encyclopedia: Friedreich's Ataxia (http://www.nlm.nih.gov/medlineplus/ency/article/001411.htm)
  • MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy (http://www.nlm.nih.gov/medlineplus/ency/article/000192.htm)
  • National Institute of Neurological Disorders and Stroke: Friedreich's Ataxia Fact Sheet (http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm)

You might also find information on the diagnosis or management of Friedreich ataxia in Educational resources (http://www.ghr.nlm.nih.gov/condition/friedreich-ataxia/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/friedreich-ataxia/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Friedreich ataxia?

You may find the following resources about Friedreich ataxia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Friedreich ataxia?

  • FA
  • FRDA
  • Friedreich spinocerebellar ataxia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Friedreich ataxia?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Friedreich ataxia?

ataxia ; atypical ; autosomal ; autosomal recessive ; cardiomyopathy ; cell ; diabetes ; DNA ; gene ; guanine ; hypertrophic ; inherited ; mitochondria ; muscle cells ; nervous system ; protein ; puberty ; recessive ; scoliosis ; spasticity ; trinucleotide repeat

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Adinolfi S, Trifuoggi M, Politou AS, Martin S, Pastore A. A structural approach to understanding the iron-binding properties of phylogenetically different frataxins. Hum Mol Genet. 2002 Aug 1;11(16):1865-77. (http://www.ncbi.nlm.nih.gov/pubmed/12140189?dopt=Abstract)
  • Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A, Sacchetti S, Keller S, Avvedimento VE, Chiariotti L, Cocozza S. DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. J Med Genet. 2008 Dec;45(12):808-12. doi: 10.1136/jmg.2008.058594. Epub 2008 Aug 12. (http://www.ncbi.nlm.nih.gov/pubmed/18697824?dopt=Abstract)
  • Gene Review: Friedreich Ataxia (http://www.ncbi.nlm.nih.gov/books/NBK1281)
  • Hebert MD. Targeting the gene in Friedreich ataxia. Biochimie. 2008 Aug;90(8):1131-9. doi: 10.1016/j.biochi.2007.12.005. Epub 2007 Dec 28. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18206656?dopt=Abstract)
  • Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol. 2009 Mar;256 Suppl 1:9-17. doi: 10.1007/s00415-009-1003-2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19283345?dopt=Abstract)
  • Pandolfo M. Friedreich ataxia. Arch Neurol. 2008 Oct;65(10):1296-303. doi: 10.1001/archneur.65.10.1296. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18852343?dopt=Abstract)
  • Ribaï P, Pousset F, Tanguy ML, Rivaud-Pechoux S, Le Ber I, Gasparini F, Charles P, Béraud AS, Schmitt M, Koenig M, Mallet A, Brice A, Dürr A. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol. 2007 Apr;64(4):558-64. (http://www.ncbi.nlm.nih.gov/pubmed/17420319?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2010
Published: October 27, 2014