Huntington's Disease

Huntington's disease is a rare genetic condition that weakens nerve cells in certain areas of the brain. The disease gets worse over time. It gradually affects a person's ability to walk, speak, and think.

Everyone has the HTT gene that plays a role in Huntington's disease, but people who get the disease have an "expanded" gene. This means that a certain segment of the gene is longer than normal. Everyone who has this expanded segment eventually gets Huntington's disease.

• Adult-onset Huntington's disease. This is the most common form of the disease. It usually begins at age 35–50 years.
• Early-onset Huntington's disease. This is also called juvenile Huntington's disease. It is extremely rare. Symptoms begin in childhood or adolescence.

What are the causes?

This condition is caused by a change (mutation) in the HTT gene. It is passed down through families (inherited).

What increases the risk?

• You have a parent with Huntington's disease.
• You are of European descent.

What are the signs or symptoms?

• Twitching movements.
• Loss of coordination.
• Loss of memory.
• Difficulty making decisions.

• Worsening mental health and abilities, such as not being able to walk, move, speak, or swallow.
• More visible jerking and twitching movements.

• Depression or irritability.
• Bipolar disorder or mania.
• Obsessive-compulsive disorder.

How is this diagnosed?

• Your symptoms.
• Your family history.
• A physical exam. This is done to check for abnormal movements or reflexes and abnormal speech.
• You may also have other tests to confirm the diagnosis and to rule out other conditions. These may include:
  • Neurological exams. These check the health of your nerves.
  • Psychological tests. These check your mental health.
  • Neuropsychological testing. This checks your memory, language, and reasoning skills.
  • Imaging studies of your brain, including CT scan, MRI, or PET scan.
  • Genetic testing.

How is this treated?

• Taking medicines to help with movement and behavioral health disorders.
• Seeing psychologists or counselors for emotional and mental health support.
• Getting physical therapy, speech therapy, and occupational therapy to help you move, speak, and function as well as possible.

Follow these instructions at home:

Lifestyle

• Exercise regularly as told by your health care provider. Being physically fit can make it easier to manage your symptoms. Ask your health care provider what activities are right for you.
• Talk to your health care provider or a dietitian about creating an eating plan. Good nutrition helps to maintain and improve health.
• Take actions to make your home safe in order to prevent falls. Make sure that:
  • Stairs have railings.
  • Grab bars are installed by the toilet and in the tub and shower.
  • Floors are free from clutter.
  • Nonslip rugs are installed on floors.
  • Hallways have good lighting.

General instructions

• Take over-the-counter and prescription medicines only as told by your health care provider.
• Have a good support system in place. Consider joining a Huntington's disease support group.
• Talk with a genetic specialist to help with decisions regarding family planning. Genetic testing for you and for family members (blood relatives) can help to determine whether you and your blood relatives:
  • Carry the gene mutation.
  • Are likely to develop the condition in the future.
  • Can pass the mutation to children.
• Keep all follow-up visits. This is important. This includes visits with your physical and occupational therapists and mental health specialists.

Where to find more information

• National Institute of Neurological Disorders and Stroke: www.ninds.nih.gov

Contact a health care provider if:

• You have new or changing symptoms.
• You have more problems with memory or thinking.
• Your ability to speak, walk, or swallow gets worse.
• You feel that you can no longer care for yourself at home.
• You feel depressed.

Get help right away if:

• You have thoughts of hurting yourself or others.

• Call your local emergency services (911 in the U.S.).
• Call a suicide crisis helpline, such as the National Suicide Prevention Lifeline at 1-800-273-8255 or 988 in the U.S. This is open 24 hours a day in the U.S.
• Text the Crisis Text Line at 741741 (in the U.S.).

Summary

• Huntington's disease is a rare genetic condition that weakens nerve cells in certain areas of the brain. It gradually affects a person's ability to walk, speak, and think.
• This condition is caused by a change (mutation) in the HTT gene. It is passed down through families (inherited).
• Symptoms of this condition get worse over time. At first, symptoms may include twitching movements, loss of coordination, loss of memory, and difficulty making decisions.
• Later symptoms may include a worsening ability to walk, move, speak, or swallow.
• There is no cure for Huntington's disease. Treatment aims to manage symptoms and to provide the best possible quality of life.