GTR Home > Conditions/Phenotypes > Huntington chorea

Summary

Excerpted from the GeneReview: Huntington Disease
Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years and the median survival time is 15 to 18 years after onset.

Genes See tests for all associated and related genes

  • Also known as: HD, IT15, LOMARS, HTT
    Summary: huntingtin

Clinical features

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Practice guidelines

  • EHDN, 2014
    Diagnostic genetic testing for Huntington's disease.
  • EMQN/CMGS, 2013
    EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.
  • EHDN, 2013
    Recommendations for the predictive genetic test in Huntington's disease.
  • AAN, 2012
    Evidence-based guideline: Pharmacologic treatment of chorea in Huntington disease: Report of the Guideline Development Subcommittee of the American Academy of Neurology
  • ACMG, 2004
    Technical standards and guidelines for Huntington disease testing.
  • ACMG/ASHG, 1998
    ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group.
  • ASHG/ACMG, 1995
    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
  • IHA/WFN, 1994
    Guidelines for the molecular genetics predictive test in Huntington's disease. International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea.
  • IHA/WFN, 1994
    International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease.
  • WFN, 1989
    World Federation of Neurology: Research Committee. Research Group on Huntington's chorea. Ethical issues policy statement on Huntington's disease molecular genetics predictive test.

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