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Genetic and Rare Diseases Information Center (GARD)

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Friedreich ataxia


Other Names for this Disease

  • FRDA
  • Friedreich's ataxia
  • Hereditary spinal ataxia
  • Hereditary spinal sclerosis
  • Spinocerebellar ataxia, Friedreich
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Overview

Friedreich ataxia is an inherited 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 include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals often have a form of heart disease called hypertrophic cardiomyopathy. Some people 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 around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 1/23/2012

References

  1. Friedreich ataxia. Genetics Home Reference. May 2010; http://ghr.nlm.nih.gov/condition/friedreich-ataxia. Accessed 1/23/2012.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Friedreich ataxia. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • FRDA
  • Friedreich's ataxia
  • Hereditary spinal ataxia
  • Hereditary spinal sclerosis
  • Spinocerebellar ataxia, Friedreich
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.