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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.

Your Question

What tests will my doctor order to confirm if I have Huntington disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Huntington disease?

Huntington disease is a progressive brain disorder that causes degeneration of neurons in the brain. The average age of onset is 35 to 44 years. Symptoms include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with Huntington disease usually live for about 15 to 20 years after the condition begins. It is caused by a mutation in the HTT gene and is inherited in an autosomal dominant manner. Treatment is symptomatic and supportive, and may include various medications. There is also a less common, early-onset form called juvenile Huntington disease which begins in childhood or adolescence.[1][2]
Last updated: 4/22/2015

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.[2]
Last updated: 4/22/2015

What tests will my doctor order to confirm that I have Huntington disease?

A blood test is available that can determine, in almost all cases, whether a person has the Huntington disease gene.[3] 

Confirmatory testing is used to "confirm" a neurologist's suspicion that a person has Huntington disease. It is a type of genetic testing which is often performed by a neurologist when a patient has symptoms which appear to be those generally associated with Huntington disease.[3] Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of repeats in the HD gene region. Individuals who do not have Huntington disease usually have 28 or fewer CAG repeats. Individuals with Huntington disease usually have 40 or more repeats.[4]

It is important to bear in mind that, even though a person may be aware that he or she has some of the symptoms associated with Huntington disease, hearing this suspicion confirmed can often have a significant psychological effect. For this reason, you are strongly encouraged to bring a support person with you to all testing sessions. You may also wish to have your testing done at an Huntington Disease Society of America (HDSA) Center of Excellence where there are resources available to guide you through the testing process.[3] To locate a Center of Excellence in your area, click here.
Last updated: 7/13/2009

References
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.