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Tests and diagnosis
By Mayo Clinic staffDuring an initial evaluation, your doctor will:
- Perform a physical exam
- Ask about your medical history and your family medical history
- Ask about any recent emotional or intellectual changes
If your doctor suspects Huntington's disease, you'll likely:
- Undergo a psychiatric evaluation
- Meet with a genetic counselor to discuss the possibility of having a blood test to determine whether you have the defective gene
If you know that one of your parents had Huntington's, ask your doctor about genetic testing. Genetic testing is generally done in a setting where pre-test counseling and post-test support are available along with testing.
Your doctor may also suggest:
- Computerized tomography (CT)
- Magnetic resonance imaging (MRI)
These imaging tests can help your doctor identify any changes to your brain's structure and rule out other disorders.
- Huntington's disease: Hope through research. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/huntington/detail_huntington.htm. Accessed March 27, 2009.
- Huntington's disease. The Merck Manuals Online Medical Library: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec16/ch221/ch221e.html#sec16-ch221-ch221e-49. Accessed March 27, 2009.
- SuttonBrown MA, et al. Huntington disease: Clinical features and diagnosis. http://uptodate.com/home/index.html. Accessed March 12, 2009.
- Learning about Huntington's disease. National Human Genome Research Institute. http://www.genome.gov/page.cfm?pageID=10001215. Accessed March 27, 2009.
- Trushina E, et al. Mutant huntingtin inhibits clathrin-independent endocytosis and causes accumulation of cholesterol in vitro and in vivo. Human Molecular Genetics. 2006;15:3578.
- Katsuno M, et al. Getting a handle on Huntington's disease: The case for cholesterol. Nature Medicine. 2009;15:253.
- FDA approves first drug for treatment of chorea in Huntington's disease. U.S. Food and Drug Administration. http://www.fda.gov/bbs/topics/NEWS/2008/NEW01874.html. Accessed March 28, 2009.
- Kim SU. Stem cell-based cell therapy in neurological diseases: A review. Journal of Neuroscience Research. In press. Accessed March 28, 2009.
- ACR16. Neurosearch.com. http://www.neurosearch.com/Default.aspx?ID=752. Accessed March 28, 2009.
