Email this page to a friendShare on facebookShare on twitterBookmark & SharePrinter-friendly version Huntington disease is a disorder in which nerve cells in certain parts of the brain waste away, or degenerate. The disease is passed down through families. Causes Huntington disease is caused by a genetic defect on chromosome 4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 28 times. But in persons with Huntington disease, it is repeated 36 to 120 times.
As the gene is passed down through families, the number of repeats tend to get larger. The larger the number of repeats, the higher your chance of developing symptoms at an earlier age. Therefore, as the disease is passed along in families, symptoms develop at younger and younger ages. There are two forms of Huntington disease. Adult-onset Huntington disease is the most common. Persons with this form usually develop symptoms in their mid 30s and 40s. Early-onset Huntington disease affects a small number of cases and begins in childhood or the teens.
If one of your parents has Huntington disease, you have a 50% chance of getting the gene. If you get the gene from both your parents, you will develop the disease at some point in your life. You will also pass it on to your children. If you do not get the gene from your parents, you cannot pass the gene on to your children. Symptoms Behavior changes may occur before movement problems, and can include: Behavioral disturbances Hallucinations Irritability Moodiness Restlessness or fidgeting Paranoia Psychosis Abnormal and unusual movements include:
Facial movements, including grimaces Head turning to shift eye position Quick, sudden, sometimes wild jerking movements of the arms, legs, face, and other body parts Slow, uncontrolled movements Unsteady gait Dementia that slowly gets worse, including: Disorientation or confusion Loss of judgment Loss of memory Personality changes Speech changes Additional symptoms that may be associated with this disease: Anxiety, stress, and tension Difficulty swallowing Speech impairment Symptoms in children: Rigidity Slow movements Tremor Exams and Tests.
The doctor will perform a physical exam and may ask about the patient’s family history and symptoms. An exam of the nervous system will also be done. The doctor may see signs of: Dementia Abnormal movements Abnormal reflexes “Prancing” and wide walk Hesitant speech or poor enunciation Other tests that may show signs of Huntington disease include: Psychological testing Head CT or MRI scan PET (isotope) scan of the brain Genetic testing is available to determine whether a person carries the gene for Huntington disease. Treatment There is no cure for Huntington disease.
There is no known way to stop the disease from getting worse. The goal of treatment is to slow the symptoms and help the person function for as long as possible. Medicines can be prescribed, depending on the symptoms. Dopamine blockers may help reduce abnormal behaviors and movements. Drugs such as amantadine and tetrabenazine are used to try to control extra movements. Depression and suicide are common among persons with Huntington disease. It is important for caregivers to monitor for symptoms and seek medical help for the person right away.
As the disease progresses, the person will need assistance and supervision, and may eventually need 24-hour care. Support Groups Huntington Disease Society of America – www. hdsa. org Outlook (Prognosis) Huntington disease causes disability that gets worse over time. Persons with this disease usually die within 15 to 20 years. The cause of death is often infection. Suicide is also common. It is important to realize that the disease affects everyone differently. The number of CAG repeats may determine the severity of symptoms.
Persons with few repeats may have mild abnormal movements later in life and slow disease progression. Those with a large number of repeats may be severely affected at a young age. When to Contact a Medical Professional Call your health care provider if you or a family member develops symptoms of this disorder. Prevention Genetic counseling is advised if there is a family history of Huntington disease. Experts also recommend genetic counseling for couples with a family history of this disease who are considering having children. Alternative Names.
Huntington chorea When it comes to Huntington’s disease, statistics concerning the disorder can be helpful in better understanding the disease and its impact. Based on Huntington’s disease statistics, it is estimated that the disorder affects about 30,000 people in the United States alone, and at least 150,000 others have a 50 percent risk of developing Huntington’s disease at some point. Other statistics indicate that people with the most common form of Huntington’s disease generally live 15 to 25 years after the onset of the disorder.