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Huntington Disease

(Huntington Chorea; HD)

 

Definition

Huntington disease (HD) is an inherited disorder that affects the brain. HD causes slow, progressive degeneration of nerve cells in certain areas of the brain. Eventually, HD results in:

  • Abnormal body movements
  • Gradual deterioration or loss of intellectual abilities
  • Behavior problems
 

Causes    TOP

A faulty gene on chromosome #4 causes HD. All people who inherit the faulty gene may eventually develop HD.

 

Risk Factors    TOP

Having family members with HD increases your chance of developing HD. Each person whose parent has HD has a 50% chance of inheriting the disorder.

 

Symptoms    TOP

Symptoms most often develop between the ages of 30-50 years. Symptoms are mild at first and are often barely noticeable, but usually worsen over 15-20 years.

Abnormal body movements that worsen over time, may include:

  • Sudden jerks or uncontrolled movements of the limbs or trunk
  • Facial grimacing
  • Continuous need to turn head and shift gaze
  • Walking that is unsteady or dance-like

Gradual deterioration or loss of intellectual abilities may include:

  • Difficulty with eating and swallowing, which may result in weight loss
  • Difficulty dressing, sitting, and caring for oneself
  • Grunting or poor articulation of speech

Mental function and behavior problems may include:

  • Trouble with attention and awareness
  • Confusion or disorientation
  • Loss of memory
  • Loss of judgment
  • Loss of ability to think rationally
  • Irritability and moodiness
  • Depression (common)
  • Anxiety
  • Social withdrawal or antisocial behavior
  • Irresponsible behavior
  • Personality changes
  • Psychosis—a severe emotional and behavioral disorder that often interferes with a person's ability to relate to others and to function in daily life
  • Paranoia—a mental disorder that involves feelings of being watched, followed, or harmed by others
  • Hallucinations—the perception of a thing or person that is not present

Ultimately, HD can:

  • Cause the loss of the physical and mental ability to care for oneself
  • Cause severe disability, making full-time or nursing home care necessary
  • Result in death, often due to a fall or pneumonia
 

Diagnosis    TOP

You will be asked about your symptoms and medical history (including family medical history). A physical exam will be done.

Your bodily fluids may be tested. This can be done with blood tests.

Images may be taken of your bodily structures. This can be done with:

MRI Scan of the Brain

MRI of the Brain

Copyright © Nucleus Medical Media, Inc.

There is a test that can determine if a person has inherited the gene for HD. This test may help to make the diagnosis of HD. It may also help to determine if a person has inherited the HD gene before symptoms appear. Genetic counseling is advised before taking this test to review risks and benefits.

 

Treatment    TOP

There is no cure for HD. Treatment aims to help control symptoms.

Medications

Drugs can help control abnormal movements and emotional symptoms of HD. These include:

  • Tetrabenazine
  • Antipsychotics
  • Antidepressants

Physical Fitness

Staying physically active helps people with HD to function better and longer. Often, physical and occupational therapy may be of some benefit.

Psychological Support    TOP

Consider joining a support group for people with HD. It will help to learn how others are learning to live with the challenges of HD.

 

Prevention    TOP

There is no way to prevent the onset of HD if a person has inherited the gene for the disorder. If you have a family history of HD, talk with a genetic counselor.

RESOURCES:

Hereditary Disease Foundation
http://www.hdfoundation.org

Huntington Disease Society of America
http://www.hdsa.org

CANADIAN RESOURCES:

Health Canada
https://www.canada.ca

Huntington Society of Canada
http://www.huntingtonsociety.ca

REFERENCES:

A physician's guide to the management of Huntington's disease. Huntington's Disease Society of America website. Available at:
...(Click grey area to select URL)
Accessed October 2, 2017.

Fast facts about HD. Huntington's Disease Society of America website. Available at:
...(Click grey area to select URL)
Accessed October 2, 2017.

Frank S, Jankovic J. Advances in the pharmacological management of Huntington's disease. Drugs. 2010;70(5):561-571.

Huntington disease. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T113724/Huntington-disease . Updated July 25, 2016. Accessed October 2, 2017.

Mestre T, Ferreira J, Coelho MM, et al. Therapeutic interventions for symptomatic treatment in Huntington's disease. Cochrane Database Syst Rev. 2009;8(3):CD006456.

NINDS Huntington's disease information page. National Institute of Neurological Disorders and Stroke website. Available at:
...(Click grey area to select URL)
Accessed October 2, 2017.

Paulsen JS, Hoth KF, Nehl C, Stierman L. Critical periods of suicide risk in Huntington's disease. Am J Psychiatry. 2005;163(4):725-731.

9/3/2014 DynaMed Plus Systematic Literature Surveillance. Available at: http://www.dynamed.com/topics/dmp~AN~T113724/Huntington-disease: Wippold FJ, Brown DC, Broderick DF, et al. American College of Radiology (ACR) Appropriateness Criteria for dementia and movement disorders. Available at:
...(Click grey area to select URL)
Updated 2014. Accessed September 30, 2014.



Last reviewed September 2018 by EBSCO Medical Review Board Rimas Lukas, MD
Last Updated: 9/30/2014

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