Huntington Disease

Symptoms of Huntington disease usually develop subtly, typically beginning between the ages of 35 and 40 but sometimes before adulthood.

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, swallowing, 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, excitable, and agitated. 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 Huntington 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. They may also become anxious or develop obsessive-compulsive disorder Obsessive-Compulsive Disorder (OCD) Obsessive-compulsive disorder is characterized by obsessions, compulsions, or both. Obsessions are recurring, persistent, unwanted, anxiety-provoking, intrusive ideas, images, or urges. Compulsions... read more .

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 disorder (such as Parkinson disease Parkinson Disease (PD) Parkinson disease is a slowly progressive degenerative disorder of specific areas of the brain. It is characterized by tremor when muscles are at rest (resting tremor), increased muscle tone... read more ) or a psychiatric disorder (such as schizophrenia Schizophrenia Schizophrenia is a mental disorder characterized by loss of contact with reality (psychosis), hallucinations (usually, hearing voices), firmly held false beliefs (delusions), abnormal thinking... read more ) because they may have had Huntington disease that was not diagnosed.

Computed tomography Computed Tomography (CT) In computed tomography (CT), which used to be called computed axial tomography (CAT), an x-ray source and x-ray detector rotate around a person. In modern scanners, the x-ray detector usually... read more (CT) or magnetic resonance imaging Magnetic Resonance Imaging (MRI) In magnetic resonance imaging (MRI), a strong magnetic field and very high frequency radio waves are used to produce highly detailed images. MRI does not use x-rays and is usually very safe... read more (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 Advance Directives Health care advance directives are legal documents that communicate a person’s wishes about health care decisions in the event the person becomes incapable of making health care decisions. There... read more , 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 Antipsychotic drugs Schizophrenia is a mental disorder characterized by loss of contact with reality (psychosis), hallucinations (usually, hearing voices), firmly held false beliefs (delusions), abnormal thinking... read more (such as chlorpromazine, haloperidol, risperidone, and olanzapine) may help control the agitation. Drugs that reduce the amount of dopamine (such as tetrabenazine, deutetrabenazine, and the antihypertensive reserpine), can help stop (suppress) the abnormal movements..

Antidepressants Drug Treatment for Depression Agomelatine, a new type of antidepressant, is a possible treatment for major depressive episodes. Several types of drugs can be used to treat depression: Selective serotonin reuptake inhibitors... read more can be used to treat depression, if present.

Doctors offer genetic counseling Overview of Genetic Disorders Genetic disorders are disorders caused by abnormalities in one or more genes or chromosomes. Some genetic disorders are hereditary and others are spontaneous. Hereditary genetic disorders are... read more and genetic testing to people have parents or siblings with Huntington disease. Genetic counseling should be offered before genetic testing because the consequences of Huntington disease are so serious. Counseling is particularly important for women of childbearing age and men considering becoming fathers.

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.