Huntington’s Disease (HD) is a disease that affects the brain and causes unsteady and uncontrollable movements in the hands, feet, and face, and mental illness symptoms. People who have HD develop abnormal movements that eventually affect such activities as walking, talking, and swallowing.
HD is an inherited disease; a parent passes it to his or her child.
What are the symptoms of Huntington’s Disease?
Huntington’s Disease affects a person both physically and mentally. One of the first physical symptoms is a muscular twitching called chorea. Chorea is derived from the Greek word for dance and is best described as slow, dance-like movements that may affect the limbs, torso, and face.
Physical problems may start out in small ways—for example, clumsiness or losing balance—and then get worse over time. Chorea can make speaking, eating, and walking more difficult, and may also affect the person’s ability to perform daily functions, such as driving. These individuals are also at greater risk for falls. Rarely, HD patients may develop a condition called akinesia, where their movements are slow and they experience stiffness.
The early mental signs of HD include increased irritability, mood swings, depression, or anger. Over time, patients with HD may develop problems with memory. Sometimes, these mental changes precede physical signs for years.
HD is a progressive disease; this means that it gets worse over time, and movement and everyday activities become harder and harder. Depending on the person’s age, he or she may suffer with HD for up to 30 years. HD is not fatal, but people who have it may die from pneumonia or from injuries due to a fall.
What is the cause of Huntington’s Disease?
Huntington’s Disease is caused by the destruction of nerve cells (neurons) located in the basal ganglia and cortex (surface) areas of the brain. The basal ganglia control body movements. The cortex underlies intellectual characteristics such as thinking, decision-making, and memory.
Who is at risk for Huntington’s Disease?
A person is at risk for HD if he or she inherits the HD mutation from a parent. A child whose parent has the HD mutation has a 50% chance of inheriting the gene; anyone who inherits the gene will eventually develop HD symptoms.
HD can affect people at any age, from childhood to adulthood. The term "juvenile" HD refers to development of the disease in a young person. People who get HD at a younger age tend to have a more progressive illness, and some may die within 10 years of being diagnosed with HD.
How is Huntington’s Disease diagnosed?
Because HD is an inherited condition, the doctor will need to know if anyone else in the family has the disease. The doctor will perform a physical examination of the patient, paying close attention to abnormal movements such as chorea, as well as balance, reflexes, and coordination.
In addition, the doctor may order brain imaging tests such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, and blood tests, to see if there are any diseases that may produce changes similar to HD symptoms.
If the doctor feels that the patient has physical examination findings, and has family members that are known to have HD or may have had HD (and the doctor did not find another disease that can explain the symptoms), the doctor may approach testing for HD specifically.
The HD genetic test is a simple blood test, but the answer may take several weeks. This test is usually done after extensive counseling of the patient and his or her family and after considerable reflection on the part of the patient. In many instances, this counseling should be done by a doctor who specializes in seeing patients with HD. Likewise, testing of the patient’s family members who are well but may have the abnormal gene also is done only after extensive counseling and reflection.
How is Huntington’s Disease treated?
There is no cure for HD and no way to halt its progression. Treatments are designed to relieve the symptoms.
To treat the abnormal movements (chorea) caused by HD, the physician may prescribe antipsychotic drugs such as aripiprazole (Abilify) or risperidone (Risperdal). These drugs may also treat mental symptoms such as hallucinations and abnormal behavior. Side effects include sleepiness, and less commonly, abnormal movements.
Tetrabenazine (Xenazine ) is another drug that is used to treat abnormal movements. Sedation and, less commonly, exacerbation of depression, are its main side effects.
The physician may prescribe antidepressants to treat the patient’s depression, or "mood stabilizers" such as lithium (Eskalith) to "even out" mood swings.
What are the special needs of people who have Huntington’s Disease?
Caregivers of people who have HD can take steps to help the patient with daily activities. It can be helpful to the patient to keep his or her environment as "normal" as possible.
Exercise can help the patient physically and mentally, so the person with HD should try to do as many physical activities as possible.
Proper nutrition is very important, because the person with HD may have trouble getting enough calories. He or she may need to eat several times a day. For patients with HD who have trouble eating and swallowing, the caregiver can cut the food into smaller bites or puree it to make it easier to swallow. To prevent dehydration (another risk), the patient will need to get enough to drink every day.
Caregivers can also make use of various community resources for the person with HD, including home care services, group housing, and institutional care.
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 3/20/2009…#14369
