Huntington’s Disease

What is Huntington’s disease?

Huntington’s disease (also called Huntington’s chorea) is a rare genetic disorder affecting the brain. It is inherited, incurable, and fatal. It gradually kills nerve cells in the brain. Most cases of Huntington’s disease are diagnosed between the ages of 30 and 50.

Symptoms of Huntington’s disease

In middle age, symptoms include uncontrolled body movement (chorea) and unusual body posture. Other physical symptoms include poor coordination, slurred speech, and difficulty eating and swallowing. Also, there are noticeable changes in a person’s behavior, emotion, judgment, and comprehension. In younger people, symptoms include being unsteady on your feet, rigid muscles, seizures, and having difficulty at school.

What causes Huntington’s disease?

A single gene is to blame for Huntington’s disease. It is passed on from parent to child at the time the child is conceived.

How is Huntington’s disease diagnosed?

Doctors use a variety of tools to diagnose Huntington’s disease. They will start with a physical exam to observe a person’s symptoms. The doctor will ask questions about symptoms and a person’s family medical history. A brain scan can show abnormalities in the brain. A lab can detect the Huntington’s disease gene with a simple blood test.

Can Huntington’s disease be prevented or avoided?

Huntington’s disease is a genetic disorder. It cannot be prevented or avoided.

Huntington’s disease treatment

There is no single treatment for the disorder. Medicines can be used to treat the symptoms of the disorder. For example, some “antipsychotic” medicines can help with uncontrollable body movements. Medicines used for treating uncontrolled body movement generally have side effects that make you nauseous, sleepy, or restless. Movement disorder medicines also may worsen other symptoms associated with Huntington’s disease, such as rigid muscles.

Adapting your everyday life to the symptoms of the disorder is necessary. You may require physical (walking), occupational (activities using your hands), and speech therapies (to help with slurred speech). You also may require assistance at home for activities of daily living (cooking, cleaning, everyday chores) and when the disorder progresses for help in dressing, eating, toileting, etc. A trusted advisor can help with important decisions and in monitoring changes in your behavior.

Living with Huntington’s disease

Huntington’s disease is progressive. That means it gets worse over time. Living with the disorder means preparing for the symptoms to worsen. This means you will need help with everyday activities, including getting around your home, hygiene, eating and swallowing, and decision-making.

Questions to ask your doctor

  • To avoid passing Huntington’s disease onto your children, should every parent have a routine genetics test even if they don’t have symptoms?
  • What is the life expectancy for a person diagnosed with Huntington’s disease?
  • How quickly do the symptoms progress once you’ve been diagnosed?
  • Can most people with Huntington’s disease live at home with help?

Resources

Genetics Home Reference, U.S. National Library of Medicine, Huntington’s disease

Huntington’s Disease Society of America, What is Huntington’s Disease?

National Institutes of Health, National Institute of Neurological Disorders and Strokes, Huntington’s Disease