Huntington’s disease diagnosis
The biggest sign that you might have HD is a family history of the condition. To diagnose HD, a neurologist (nerve and brain specialist) will ask questions about your personal and family medical history and perform a thorough physical examination.
If you have a family history of HD, your doctor may recommend genetic testing even if you don’t have any symptoms. People who might have the condition sometimes choose to have genetic testing before they decide to have children. Other people with HD have genetic testing to confirm a diagnosis once they start to experience symptoms. Genetics counselors will help you understand your risk and whether testing is right for you.
Blood tests can help rule out other conditions that might be causing symptoms. Your doctor may also recommend imaging of the brain to look for physical signs of Huntington's disease:
- Computed tomography (CT) uses X-rays and computer processing to produce detailed images.
- Magnetic resonance imaging (MRI) uses magnetic fields, radio waves, and computer processing to create detailed pictures of the brain.
HD can change areas of the brain that affect learning, memory, reasoning, mood, and language. Neuropsychological testing assesses how much HD has affected your mental and emotional status. Results from this testing can help guide future treatments.