Experienced neurologists can make a Huntington's disease diagnosis. In order to diagnose the condition, the doctor will usually ask a number of questions (including those concerning personal and family medical history), perform a physical exam, and recommend certain tests, including a genetic test.
(Click Diagnosing Huntington's Disease for more information.)
The discovery of the Huntington disease gene has led to a genetic test to make or confirm the diagnosis.
The same genetic test is also available as a screening procedure, which allows people to be tested for the disease even if they have no symptoms of Huntington's disease.
Using a blood sample, the genetic test analyzes DNA for the mutation by counting the number of CAG repeats in the Huntington disease gene. Individuals who do not have HD usually have 28 or fewer repeats. Individuals with the condition usually have 40 or more repeats (see Genetics of Huntington's Disease for more information).
(Click Huntington's Disease Genetic Testing to learn more about testing for HD.)
There is no cure for Huntington's disease. Therefore, treatment usually involves managing the symptoms associated with the disorder. Treatment also focuses on lifestyle and care issues.
This supportive treatment often includes such things as:
- Speech therapy
- Regular physical activity
- Assistance with feeding-related issues
- Proper nutrition
- Adequate fluids.
(Click Treatment for Huntington's Disease for more information.)