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Condition

Huntington Disease

Condition 101

What is the definition of Huntington Disease?

Huntington disease (HD) is a genetic disorder in which nerve cells in certain parts of the brain waste away, or degenerate. The disease is passed down through families.

What are the alternative names for Huntington Disease?

Huntington chorea

What are the causes for Huntington Disease?

HD is caused by a genetic defect on chromosome 4. The defect causes a part of DNA to occur many more times than it is supposed to. This defect is called a CAG repeat. Normally, this section of DNA is repeated 10 to 28 times. But in persons with HD, it is repeated 36 to 120 times.

As the gene is passed down through families, the number of repeats tends to get larger. The larger the number of repeats, the higher a person's chance of developing symptoms at an earlier age. Therefore, as the disease is passed along in families, symptoms develop at younger and younger ages.

There are two forms of HD:

  • Adult-onset is the most common. Persons with this form usually develop symptoms in their mid-30s or 40s.
  • Early-onset affects a small number of people and begins in childhood or the teens.

If one of your parents has HD, you have a 50% chance of getting the gene. If you get the gene from your parents, you can pass it on to your children, who will also have a 50% chance of getting the gene. If you do not get the gene from your parents, you cannot pass the gene on to your children.

What are the symptoms for Huntington Disease?

Abnormal behaviors may occur before movement problems develop, and can include:

  • Behavioral disturbances
  • Hallucinations
  • Irritability
  • Moodiness
  • Restlessness or fidgeting
  • Paranoia
  • Psychosis

Abnormal and unusual movements include:

  • Facial movements, including grimaces
  • Head turning to shift eye position
  • Quick, sudden, sometimes wild jerking movements of the arms, legs, face, and other body parts
  • Slow, uncontrolled movements
  • Unsteady gait, including "prancing" and wide walk

Abnormal movements can lead to falls.

Dementia that slowly gets worse, including:

  • Disorientation or confusion
  • Loss of judgment
  • Loss of memory
  • Personality changes
  • Speech changes, such as pauses while talking

Additional symptoms that may be associated with this disease include:

  • Anxiety, stress, and tension
  • Difficulty swallowing
  • Speech impairment

Symptoms in children:

  • Rigidity
  • Slow movements
  • Tremor

What are the current treatments for Huntington Disease?

There is no cure for HD. There is no known way to stop the disease from getting worse. The goal of treatment is to slow the symptoms and help the person function for as long as possible.

Medicines can be prescribed, depending on the symptoms.

  • Dopamine blockers may help reduce abnormal behaviors and movements.
  • Drugs such as amantadine and tetrabenazine are used to try to control extra movements.

Depression and suicide are common among persons with HD. It is important for caregivers to monitor for symptoms and seek medical help for the person right away.

As the disease progresses, the person will need assistance and supervision, and may eventually need 24-hour care.

What are the support groups for Huntington Disease?

These resources can provide more information on HD:

  • Huntington's Disease Society of America -- hdsa.org
  • NIH Genetics Home Reference -- ghr.nlm.nih.gov/condition/huntington-disease

What is the outlook (prognosis) for Huntington Disease?

HD causes disability that gets worse over time. People with HD usually die within 15 to 20 years. The cause of death is often infection. Suicide is also common.

It is important to realize that HD affects people differently. The number of CAG repeats may determine the severity of symptoms. People with few repeats may have mild abnormal movements later in life and slow disease progression. Those with a large number of repeats may be severely affected at a young age.

When should I contact a medical professional for Huntington Disease?

Call your provider if you or a family member develops symptoms of HD.

How do I prevent Huntington Disease?

Genetic counseling is advised if there is a family history of HD. Experts also recommend genetic counseling for couples with a family history of this disease who are considering having children.

REFERENCES

Caron NS, Wright GEB, Hayden MR. Huntington disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1305. Updated July 5, 2018. Accessed May 30, 2019.

Jankovic J. Parkinson disease and other movement disorders. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 96.

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Latest Research

Latest Advance
Study
  • Condition: Huntington disease
  • Journal: Neurology
  • Treatment Used: Physical therapy
  • Number of Patients: 0
  • Published —
The study researched the effects of physical therapy on patients with Huntington disease.
Latest Advance
Study
  • Condition: Huntington's Disease-Associated Tardive Dyskinesia and Chorea
  • Journal: Expert opinion on pharmacotherapy
  • Treatment Used: Deutetrabenazine
  • Number of Patients: 0
  • Published —
This study evaluated the use of deutetrabenazine in patients with Huntington's disease-associated tardive dyskinesia and chorea.
Latest Advance
Study
  • Condition: Huntington's Disease (HD)
  • Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
  • Treatment Used: Complementary and Alternative Medicine (CAM)
  • Number of Patients: 0
  • Published —
This review of the literature summarized the available evidence for various mind-body practices and nutraceuticals in the use of complementary and alternative medicine (CAM) for Huntington's disease (HD).
Latest Advance
Study
  • Condition: Neurodegenerative Diseases
  • Journal: Annual review of neuroscience
  • Treatment Used: Antisense Oligonucleotide Therapies
  • Number of Patients: 0
  • Published —
This article discusses antisense oligonucleotide therapies for neurodegenerative diseases.

Clinical Trials

Clinical Trial
Behavioral
  • Status: Recruiting
  • Study Type: Behavioral
  • Participants: 240
  • Start Date: May 21, 2020
Indirect and Out-of-Pocket Costs of Huntington's Disease in the United States
Clinical Trial
Other
  • Status: Recruiting
  • Participants: 60
  • Start Date: May 19, 2020
Natural History Study in Prodromal and Manifest Huntington Disease Gene Expansion Carriers (HDGECs) - SHIELD HD
Clinical Trial
Procedure
  • Status: Recruiting
  • Study Type: Procedure
  • Participants: 135
  • Start Date: March 3, 2020
Study of Brain Derived Neurotrophic Factor (BDNF) Pathway Biomarkers in the Cerebrospinal Fluid in Patients With Huntington's Disease
Clinical Trial
Other
  • Status: Recruiting
  • Participants: 90
  • Start Date: January 13, 2020
Couple and Spouse Caregiver in Huntington's Disease