More than 15,000 Americans have Huntington’s Disease (HD). At least 150,000 others have a 50 percent risk of developing the disease and thousands more of their relatives live with the possibility that they, too, might develop HD.
What causes HD?
HD results from the genetically programmed degeneration of neurons. It is a familial disease, passed from parent to child through a mutation in the normal gene. The genetic defect responsible for HD is a small sequence of DNA on chromosome 4. Each child of an HD parent has a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease and cannot pass it to subsequent generations. A person who inherits the HD gene, and survives long enough, will sooner or later develop the disease. In some families, all the children may inherit the HD gene; in others, none do. Whether one child inherits the gene has no bearing on whether others will or will not share the same fate.
Signs of Huntington’s Disease
The degeneration of neurons in HD causes uncontrolled movements, loss of intellectual faculties, and emotional disturbances. Some signs of HD may include:
- Chorea—sudden involuntary or jerky movements that can occur throughout the body
- Major balance and coordination problems
- Rapid, jerky movements in the eyes
- Slurred, hesitant or halted speech
- Problems swallowing
What kind of treatment is available for Huntingon’s Disease?
While there is no treatment for curing HD, a combination of medication, psychotherapy, family therapy, physical therapy, and occupational therapy can help to lessen and improve HD symptoms.
Medications for movement disorders
Drugs to treat movement disorders associated with HD include:
- Tetrabenazine (Xenazine) is specifically approved by the Food and Drug Administration to suppress the involuntary jerking and writhing movements associated with Huntington’s disease (chorea). A serious side effect is the risk of worsening or triggering depression or other psychiatric conditions. Other possible side effects include insomnia, drowsiness, nausea and restlessness.
- Antipsychotic drugs, such as haloperidol (Haldol) and clozapine (Clozaril), have a side effect of suppressing movements. Therefore, they may be beneficial in treating chorea. These drugs may, however, worsen involuntary contractions (dystonia) and muscle rigidity.
Medications for psychiatric disorders
Medications to treat psychiatric disorders will vary depending on the disorders and symptoms. Possible treatments include the following:
- Antidepressants include such drugs as escitalopram (Lexapro), fluoxetine (Prozac, Sarafem) and sertraline (Zoloft). These drugs may also have some effect on treating obsessive-compulsive disorder. Side effects may include nausea, diarrhea, insomnia, and sexual problems.
- Antipsychotic drugs may suppress violent outbursts, agitation and other symptoms of mood disorders or psychosis.
- Mood-stabilizing drugs that can help prevent the highs and lows associated with bipolar disorder include lithium (Lithobid) and anticonvulsants, such as valproic acid (Depakene), divalproex (Depakote) and lamotrigine (Lamictal). Common side effects include weight gain, tremor and gastrointestinal problems. Periodic blood tests are required for lithium use because it can cause thyroid and kidney problems.
Family Therapy and psychotherapy
A psychotherapist — a psychiatrist, psychologist, and clinical social worker— can provide talk therapy to help a person manage behavioral problems, develop coping strategies, manage expectations during progression of the disease. A family therapist can help to facilitate effective communication among family members and cope through the disease stages together as a family.
Huntington’s disease can significantly impair control of muscles of the mouth and throat that are essential for speech, eating and swallowing. A speech therapist can help improve your ability to speak clearly or teach you to use communication devices — such as a board covered with pictures of everyday items and activities. Speech therapists can also address difficulties with muscles used in eating and swallowing.
A physical therapist can teach you appropriate and safe exercises that enhance strength, flexibility, balance and coordination. These exercises can help maintain mobility as long as possible and may reduce the risk of falls.
When the use of a walker or wheelchair is required, the physical therapist can provide instruction on appropriate use of the device and posture. Also, exercise regimens can be adapted to suit the new level of mobility.
An occupational therapist can assist the person with Huntington’s disease, family members and caregivers on the use of assistive devices that improve functional abilities. These strategies may include handrails at home, assistive devices for activities such as bathing and dressing, and eating and drinking utensils adapted for people with limited fine motor skills.
Source: Mayo Clinic – http://www.mayoclinic.com/health/huntingtons-disease/DS00401