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(Huntington's Disease; Huntington Chorea; Chronic Progressive Chorea; Hereditary Chorea)
Huntington disease is a hereditary disease that begins with occasional involuntary jerking or spasms, then progresses to more pronounced involuntary movements (chorea and athetosis), mental deterioration, and death.
The part of the brain that smooths and coordinates movements degenerates.
Movements become slow and uncoordinated, and mental function, including self-control and memory, deteriorates.
Doctors base the diagnosis on symptoms, family history, imaging of the brain, and gene testing.
Drugs can help relieve the symptoms, but the disorder is progressive, ultimately ending in death.
Huntington disease affects fewer than 1 of 100,000 people. It affects both sexes equally.
The gene for Huntington disease is dominant. Therefore, children of a person who has this disease have a 50% chance of developing it.
Symptoms usually develop subtly, typically beginning between the ages of 35 and 40 but sometimes before adulthood.
Huntington disease is caused by gradual degeneration of small parts of the basal ganglia called the caudate nucleus and corpus striatum.The basal ganglia are collections of nerve cells located at the base of the cerebrum, deep within the brain. They help smooth out and coordinate movements.
Locating the Basal Ganglia
The basal ganglia are collections of nerve cells located deep within the brain. They include the following:
The basal ganglia help smooth out muscle movements and coordinate changes in posture.
During the early stages of Huntington disease, the face, trunk, and limbs may move involuntarily and rapidly. At first, people can blend these abnormal involuntary movements into purposeful ones so that the abnormal movements are barely noticeable. However, with time, the movements become more obvious.
Muscles may contract briefly and rapidly, causing the arms or another body part to suddenly jerk, sometimes several times in a row.
People may walk in a lilting or exaggeratedly jaunty way, like a puppet. They may grimace, flick the limbs, and blink more often. Movements become uncoordinated and slow. Eventually, the entire body is affected, making walking, sitting still, eating, speaking, and dressing extremely difficult.
Mental changes frequently occur before or as the abnormal movements develop. These changes are subtle at first. People may gradually become irritable and excitable. They may lose interest in their usual activities. They may be unable to control their impulses, losing their temper, having fits of despondency, or becoming promiscuous.
As the disease progresses, people may behave irresponsibly and often wander aimlessly. Over years, they lose their memory and their ability to think rationally. They may become severely depressed and attempt suicide.
In advanced disease, dementia is severe, and people are confined to bed. Full-time assistance or nursing home care is needed. Death usually occurs 13 to 15 years after symptoms begin.
Huntington disease may be difficult to recognize in the early stages because symptoms are subtle. The disease may be suspected based on symptoms and a family history. Doctors should be told about relatives who have had mental problems or have been diagnosed as having a neurologic or psychiatric disorder (such as Parkinson disease or schizophrenia) because they may have had Huntington disease that was not diagnosed.
Computed tomography (CT) or magnetic resonance imaging (MRI) is done to check for the degeneration of the basal ganglia and other areas of the brain usually affected by the disease and to rule out other disorders.
Genetic testing is done to confirm the diagnosis. Genetic testing and counseling are important for people who have a family history of the disease but no symptoms because people are likely to have children before symptoms appear. For such people, genetic counseling should precede genetic testing. They are referred to centers that have expertise in dealing with the complex ethical and psychologic issues involved.
As soon as possible after the diagnosis is made, people with Huntington disease should establish advance directives, indicating what kind of medical care they want at the end of life.
No cure exists for Huntington disease. However, certain drugs, including antipsychotic drugs (such as chlorpromazine, haloperidol, risperidone, and olanzapine) and drugs that reduce the amount of dopamine (such as tetrabenazine and the antihypertensive reserpine), can help relieve symptoms such as abnormal movements and agitation.
Antidepressants can be used to treat depression, if present.
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