Overview
A healthcare provider, like a neurologist (a doctor specializing in the brain and nerves), will diagnose Huntington’s disease after performing a physical exam and a neurological exam. They’ll look for symptoms of the condition that affect your movements, like twitches and jerking, as well as problems with your balance, reflexes and coordination. Your neurologist will also want to know if anyone else in your biological family has the condition. Often, you’ll need a genetic test to confirm the diagnosis.
Tests can rule out other conditions that cause similar symptoms and confirm a Huntington’s disease diagnosis. Tests include:
- Blood tests.
- Genetic testing.
- Imaging tests (magnetic resonance imaging (MRI) and computed tomography (CT) scan).
What is genetic testing to diagnose Huntington’s disease?
A genetic test is a blood test that looks for changes to your DNA. Your healthcare provider draws a sample of your blood and sends it to a lab to look at your DNA. The test determines if you have a genetic change in the HTT gene. A genetic counselor (someone who specializes in genetic testing) will discuss the process and results with you.
Your provider may also ask if your biological family members can come in for genetic testing, too. This can help assess their risk of developing the condition or having a future child with the condition.
Can you find out if you have Huntington’s disease before symptoms appear?
Yes. If one of your parents or siblings has Huntington’s disease, your risk of having it is high. Predictive genetic testing — testing for genetic conditions before symptoms start — can tell if you have the gene change that causes Huntington’s disease.
People have different responses to learning about a condition they’ll get someday. Knowing about the gene could help you make family plans and financial decisions. But it could also be emotionally difficult, especially since you can’t prevent the condition. It’s essential to discuss testing with your genetic counselor to see whether finding out early is the best decision for you.
Symptoms
When to see a doctor
Complications
- High blood pressure.
- Diabetes.
- Heart failure.
- Some types of heart valve disease.
Prevention
- Control high blood pressure, high cholesterol and diabetes.
- Don't smoke or use tobacco.
- Eat a diet that's low in salt and saturated fat.
- Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
- Get good sleep. Adults should aim for 7 to 9 hours daily.
- Maintain a healthy weight.
- Reduce and manage stress.
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