Diagnosis of Huntington's disease

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If someone is showing symptoms of the disease, and it is known to run in the family, genetic testing can confirm the diagnosis. Magnetic resonance imaging (MRI scan) or computerised tomography (CT scan) may also be used in the later stages of the disease to identify the affected areas of the brain.

Children of a person with Huntingtonâ€™s disease may choose to take a genetic test (after the age of 18) to see if they have inherited the disease. If they have inherited the faulty gene, they will definitely develop Huntingtonâ€™s, but it is not possible to work out at what age.

You can ask your GP to arrange an appointment for you at a Regional Genetic Clinic (see selected links). You will have some counselling, then two blood tests, and you may have to wait 4-6 weeks for the results.

Not everyone wants to know if they have inherited the disease, it is a personal choice. Some people say they would rather not know, because they want to enjoy their life and they may die of other causes before the disease develops anyway. Most people have approximately 40 years of normal healthy life before the disease develops.

It is possible to do a genetic test on an unborn baby early in pregnancy, if one of the parents carries the Huntingtonâ€™s disease. Counselling should be considered as testing has ethical implications and is not 100% accurate.