- Huntington chorea
- Huntington's chorea
- Huntington's disease
Your QuestionWhat tests will my doctor order to confirm if I have Huntington disease?
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The diagnosis of Huntington disease is suspected clinically in the presence of the following:
Progressive motor disability featuring chorea; voluntary movement may also be
Mental disturbances including cognitive decline, changes in personality, and/or depression
consistent with inheritance
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. 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.
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. To locate a Center of Excellence in your area, click here.
- Warby SC, Graham RK &Hayden MR. Huntington Disease. GeneReviews. April 2010; http://www.ncbi.nlm.nih.gov/books/NBK1305/. Accessed 2/4/2014.
- Huntington disease . Genetics Home Reference. OCtober 2008; http://ghr.nlm.nih.gov/condition/huntington-disease . Accessed 6/27/2011.
- Genetic Testing for Huntington's Disease. Huntington's Disease Society of America (HDSA). http://www.hdsa.org/images/content/1/1/11687.pdf. Accessed 7/13/2009.
- Huntington's Disease: Hope Through Research. National Institute of Neurological Disorders and Stroke (NINDS). 2009; http://www.ninds.nih.gov/disorders/huntington/detail_huntington.htm. Accessed 7/13/2009.