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Huntington's Disease

Huntington's disease (HD) is a fatal condition typically characterized by involuntary movements and dementia. The disease is caused by genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This causes uncontrolled movements, loss of intellectual faculties and emotional disturbance. The disease is a hereditary disorder passed on by a parent to child through a mutation in a gene.

In the United States, Huntington's disease occurs in about one of every 10,000 to 20,000 people. It affects males and females equally and crosses all ethnic and racial boundaries. Typically, symptoms begin between age 30 and 55.

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Children of parents with Huntington's disease have a 50 percent chance of inheriting the HD gene. If a child does not inherit the gene, he or she won't develop the disease and can't pass it on. A person who inherits the HD gene will eventually develop the disease.

Whether a child inherits the gene has no bearing on whether other siblings will or won't inherit the gene. In 1 to 3 percent of individuals with HD, there is no family history of the disease.

At this time, there is no cure or treatment to reverse the course of the disease. UCSF specialists are studying the Huntington's disease gene to better understand how to treat the condition.

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Early symptoms of Huntington's disease (HD) include mood swings, depression and irritability. Patients may notice problems in their daily activities such as driving, learning new things, remembering a fact or making a decision.

As the disease progresses, concentration and short-term memory decline and involuntary movements increase. The ability to walk, speak and swallow deteriorates. Eventually, patients become unable to care for themselves. Chocking, infection and heart failure are potentially fatal complications of the disease.

To make a diagnosis of Huntington's disease (HD), a genetic test, using a blood sample, will be performed. This test is usually combined with a complete medical history and other neurological and laboratory tests. For individuals who are at risk of carrying the HD gene, testing can be performed before symptoms occur.

Information from brain scans such as computed tomography (CT), electroencephalography (EEG) and magnetic resonance imaging (MRI) may be part (magnetic resonance imaging) and may be reviewed as part of the diagnosis.

Currently, there is no cure for Huntington's disease and no treatment to slow its progression. Treatments are available, however, to help control the symptoms.

Medications may help alleviate involuntary movements and may be used to help control hallucinations, delusions and violent outbursts. Anti-psychotic drugs can have severe side effects, though, including stiffness and sedation, and for that reason are used in the lowest possible doses. Anti-depressants are used for depression and tranquilizers can help with severe mood swings.

A special diet may be prescribed to help with swallowing problems and to prevent weight loss.

Studies are being conducted to determine if antioxidants and other agents help protect the brain and prevent degeneration in HD. So far, these studies have not shown any benefit.

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Reviewed by health care specialists at UCSF Medical Center.

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San Francisco, CA 04143
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