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Huntington disease

Huntington chorea

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.

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Causes

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:

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.

Symptoms

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

Abnormal and unusual movements include:

Abnormal movements can lead to falls.

Dementia that slowly gets worse, including:

Additional symptoms that may be associated with this disease include:

Symptoms in children:

Exams and Tests

The health care provider will perform a physical exam and may ask about the patient's family history and symptoms. An exam of the nervous system will also be done.

Other tests that may show signs of Huntington disease include:

Genetic testing is available to determine whether a person carries the gene for Huntington disease.

Treatment

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.

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.

Support Groups

These resources can provide more information on HD:

Outlook (Prognosis)

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 to Contact a Medical Professional

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

Prevention

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.

Related Information

Dementia
Muscle atrophy
Movement - unpredictable or jerky
Depression

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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Review Date: 5/26/2019  

Reviewed By: Alireza Minagar, MD, MBA, Professor, Department of Neurology, LSU Health Sciences Center, Shreveport, LA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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