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Huntington's Disease

Also called: Huntington's Chorea, Huntington's Chorea Disease

- Summary
- About Huntington's disease
- Risk factors and causes
- Signs and symptoms
- Diagnosis methods
- Treatment options
- Prevention methods
- Questions for your doctor

Reviewed By:
Dongwoo John Chang, M.D.

Summary

Huntington’s disease (HD) is an inherited disorder of the brain that slowly destroys a person’s ability to think, feel and move. The disease is incurable and progresses until it causes the patient’s death. About 30,000 people in the United States have HD, according to the National Institutes of Health.

HD is caused by a gene mutation that affects the way certain chemicals are produced in the brain. This results in the death of nerve cells (neurons) in several parts of the brain. The genetic mutation that causes HD is passed down from parent to child. Children whose parents have the HD gene have a 50 percent chance of inheriting the gene that causes the disease.

Neuron

HD most often appears during adulthood, especially between the ages of 35 and 50. In some cases, people may develop the disease earlier in life. In general, the earlier the disease develops, the faster it progresses.

HD is characterized by involuntary, dancing-like movements called chorea. This movement disorder is the result of neuron death in part of the brain (called the basal ganglia) that is associated with movement and balance. Other symptoms of HD include dementia and emotional and behavioral problems.

In diagnosing HD, a physician will typically perform a physical examination and compile a medical history. If Huntington’s disease is suspected, the patient may be referred to a neurologist. An important aspect of diagnosis is evidence of a family history of the disease. Genetic testing may also be conducted to look for the mutated gene in the patient’s DNA structure.

There is no cure for HD, and the progression of the disease cannot be delayed or halted. Treatment usually focuses on controlling symptoms and maintaining a reasonable quality of life for as long as possible. This may include using medications or other supportive treatment methods.

Although HD cannot be prevented, people can receive genetic tests that indicate whether or not they are carriers of the gene responsible for this illness. This information has the potential to create great emotional distress for some people. However, the benefit of genetic testing is identifying people who are carriers of the gene so they are better able to make informed decisions about the risks involved with having children.

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Review Date: 11-08-2007

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