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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Huntington disease


Other Names for this Disease
  • HD
  • Huntington chorea
  • Huntington's chorea
  • Huntington's disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is Huntington disease diagnosed?

A diagnosis of Huntington disease is typically first suspected in the presence of a family history consistent with autosomal dominant inheritance, and the characteristic signs and symptoms of the condition. The diagnosis can then be confirmed with genetic testing that identifies a specific type of mutation in the HTT gene.[1]
Last updated: 4/22/2015

Is genetic testing available for Huntington disease?

Yes. Testing of adults at risk for Huntington disease (HD) who have no symptoms of the disease is called predictive testing. Whether to have predictive testing requires careful thought, including pre-test and post-test genetic counseling. This is particularly important because there is currently no cure. Furthermore, predictive testing cannot accurately predict the age a person with an HD mutation will develop symptoms, the severity or type of symptoms they will experience, or the future rate of disease progression. A person may want to have predictive testing because they feel they need to know, or to make personal choices involving having children, finances, and/or career planning. Other people decide they do not want to know whether they will develop HD.[1]

Testing is appropriate to consider in people with symptoms, of any age, in a family with a confirmed diagnosis of HD. However, testing of asymptomatic people younger than age 18 is not considered appropriate. A main reason is that it takes away the choice of whether the person wants to know, while there is no major benefit to knowing at that age. There is also concern about the effects this information may have on family dynamics, discrimination or stigmatization in the future, and the anxiety that the information may cause.

People who are interested in learning more about genetic testing for HD for themselves or family members should speak with a genetics professional.
Last updated: 4/23/2015

References
  1. Simon C Warby, Rona K Graham, and Michael R Hayden. Huntington Disease. GeneReviews. December 11, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1305/.


Testing

  • The Division of Neurogenetics at the University of Washington is a tertiary specialty that provides clinical services to adults in the general public as well as training. They have created a booklet entitled, "Huntington Disease:Making an Informed Choice, ┬áthat can be downloaded at no charge.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • HD
  • Huntington chorea
  • Huntington's chorea
  • Huntington's disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.