Huntington's Disease
(Huntington's Chorea)
Definition:
Huntington's disease (HD) is an inherited disorder that affects the brain. HD causes slow, progressive degeneration of nerve cells in certain areas of the brain. Eventually, HD results in:
- Abnormal body movements
- Gradual deterioration or loss of intellectual abilities (dementia)
- Behavior problems
The disease is named for George Huntington, the physician who first described the condition in the 1870s.
Causes:
HD is caused by a faulty gene on the #4 chromosome. All people who inherit the faulty gene will eventually develop HD.
Risk Factors:
A risk factor is something that increases your chances of getting a disease or condition.
- Family members with HD. Each person whose parent has HD has a 50% chance of inheriting the disorder.
- Age: Onset of symptoms on average 35-50.
Symptoms:
Symptoms are mild at first and are often barely noticeable. Symptoms usually worsen over a 15-20 year period.
Physical symptoms may include:
- Abnormal body movements that worsen over time, including:
- Sudden jerks or uncontrolled movements of the limbs or trunk
- Facial grimacing
- Continuous need to turn head and shift gaze
- Walking that is unsteady or dance-like
- Difficulty with eating, dressing, sitting, and caring for oneself
- Difficulty swallowing
- Grunting or poor articulation of speech
Intellectual and emotional symptoms may include:
- Trouble with attention and awareness
- Confusion or disorientation
- Loss of memory
- Loss of judgment
- Loss of ability to think rationally
- Irritability and moodiness
- Depression (common)
- Anxiety
- Social withdrawal or antisocial behavior
- Irresponsible behavior
- Obsessive-compulsive behavior
- Personality changes
- Psychosis–a severe emotional and behavioral disorder that often interferes with a person's ability to relate to others and to function in daily life
- Paranoia–a mental disorder that involves feelings of being watched, followed, or harmed by others
- Hallucinations–the perception of a thing or person that is not present
Ultimately, HD can:
- Cause the loss of the physical and mental ability to care for oneself
- Cause severe disability, making full-time or nursing home care necessary
- Result in death, often due to a fall or pneumonia
Diagnosis:
The doctor will ask about your symptoms and medical history, and perform a physical exam. Tests may include:
CT Scan–a type of x-ray that uses a computer to make pictures of the brain
MRI Scan–a test that uses magnetic waves to make pictures of the brain
PET Scan–a test that uses radioactive isotopes (substances that are absorbed by certain areas of the brain) to assess brain function
There is a test that can determine if a person has inherited the gene for HD. This test may help to make the diagnosis of HD. It may also help to determine, before symptoms appear, if a person has inherited the HD gene. Genetic counseling is recommended before taking this test to review risks and benefits.
Treatment:
There is no cure for HD. Treatment aims to help control symptoms.
Medications
Drugs can help control abnormal movements and emotional symptoms of HD. These include:
- Sedatives or minor tranquilizers, such as benzodiazepines
- Major tranquilizers, like phenothiazine
- Antidepressants
Physical Fitness
Staying physically active helps people with HD to function better and longer.
Prevention:
There is no way to prevent the onset of HD if a person has inherited the gene for the disorder. A prospective parent with HD or a family history of HD can seek genetic counseling when deciding whether or not to have children. Genetic counseling is extremely important since ½ of the children of an affected parent are at risk for inheriting HD, and symptoms of the disorder do not usually start until after the childbearing years. |
