Huntington's Disease: Symptoms & Testing | MedStar Health

Huntington’s disease is a genetic neurological disorder that causes nerve cells in the brain to degenerate or die off. The disease has a broad physical, emotional, and psychological impact. People with this disease may have difficulty walking, talking, and controlling movements. They may also have difficulty learning new information and suffer from depression or anxiety.

Huntington’s disease symptoms

Early symptoms — irritability, moodiness, loss of balance, and difficulty making decisions — typically show up during a person’s mid-30s to 40s.

How quickly Huntington’s disease progresses, as well as the types and severity of symptoms, varies from person to person. The disease tends to follow three stages:

  • Early-stage brings on subtle changes in mood, memory, and balance and coordination. A person may be clumsy, forgetful, or easily agitated.
  • Middle-stage causes involuntary body movements called chorea that interfere with the ability to work, drive, and complete daily life activities. Speech and swallowing become difficult.  
  • Late-stage leads to the inability to walk, speak, or swallow. Around-the-clock care, usually in a care facility, is required.

How is it diagnosed?

Your physician can diagnose Huntington’s disease by reviewing family history and conducting a neurological exam. You may also undergo one or more of the following tests:

  • Brain imaging tests: Head CT, MRI, or PET scan, which can produce highly detailed pictures of the brain that may reveal areas affected by the disease.
  • Genetic blood testing: Genetic tests can confirm a diagnosis by detecting the presence of the gene known to cause Huntington’s.

Genetic testing

People with Huntington’s disease have an abnormal copy of a gene called HTT. There is a 50 percent chance their children will inherit this genetic mutation and also develop the disease. A blood test called a predictive genetic test can identify this genetic mutation.

Genetic testing is not only useful for diagnosis, but also to understand if you or a loved one is a carrier who could pass on the HTT gene. At the Huntington’s Disease Center, our genetic counselors guide you through the testing procedures and outcome. You can schedule an informational visit with one of our counselors at any time without committing to actual genetic testing.

Treatments

At present, there is no cure for Huntington’s disease. However, medications, combined with psychological, physical, occupational, and speech therapies, can help maintain and improve one’s ability to participate in daily tasks.

Read more about the comprehensive Huntington’s disease treatments we offer.

Clinical trials

Our team of specialists is actively involved in research and clinical trials aimed at expanding treatment options and stopping the disease. Learn more about our research and clinical trials.

Video gallery

When a neurological disorder like Huntington’s disease threatens your future or that of a loved one, time truly becomes precious. That’s why the Huntington’s Disease Center at MedStar Georgetown University Hospital brings together all of the specialists your family needs in one dedicated healthcare facility.

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Huntington s Disease Care, Education and Research: Ask Dr. Karen Anderson

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