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| DiseaseID |
HGD19 |
| Genetic
Disorder |
Huntington's disease
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| Gene
Name |
huntingtin gene |
| Description |
Huntington's disease is a progressive, degenerative disease that causes certain nerve cells in your brain to waste away. As a result, you may experience uncontrolled movements, emotional disturbances and mental deterioration.
Huntington's disease is an inherited disease. Signs and symptoms usually develop in middle age. Younger people with Huntington's disease often have a more severe case, and their symptoms may progress more quickly. Rarely, children may develop this condition.
Also called Huntington's chorea, Huntington's disease was documented in 1872 by American physician George Huntington. The name "chorea" comes from the Greek word for "dance" and refers to the incessant quick, jerky, involuntary movements that are characteristic of this condition.
Medications are available to help manage the signs and symptoms of Huntington's disease, but treatments can't prevent the physical and mental decline associated with the condition.
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| Symptoms |
The earliest signs and symptoms of Huntington's disease often include personality changes and decreased cognitive abilities. You may demonstrate symptoms such as irritability, anger or show signs of depression. You may also begin to have difficulty making decisions, learning new information, answering questions and remembering important information. Your family and friends may notice these changes before you become aware of them.
Early physical signs and symptoms of Huntington's disease may include mild balance problems, clumsiness and involuntary facial movements, such as grimacing. As the disease progresses, you may develop these other Huntington's disease symptoms:
? Sudden jerky, involuntary movements (chorea) throughout your body
? Severe problems with balance and coordination
? Difficulty shifting your gaze without moving your head
? Hesitant, halting or slurred speech
? Swallowing problems
? Dementia
Young people who develop Huntington's disease may have symptoms that mimic Parkinson's disease, including muscle rigidity, tremors and slow movements. Those with early-onset Huntington's disease also may develop seizures.
The disease usually develops slowly, and the severity of signs and symptoms is related to the degree of nerve cell loss. Death occurs about 10 to 30 years after signs and symptoms first appear. People with early-onset disease may progress faster.
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| Causes |
Huntington's disease is an inherited condition caused by a single abnormal gene. Doctors refer to the illness as an autosomal dominant disorder because only one copy of the defective gene, inherited from either parent, is necessary to produce the disease. If one parent has the single faulty gene, the chance that an offspring will have the defect is 50 percent. Because signs and symptoms typically first appear in middle age, some parents may not know they carry the gene until they've already had children and possibly passed on the trait.
If your child doesn't inherit the faulty gene, he or she won't develop Huntington's disease and can't pass it on to the next generation. Everyone who has the gene eventually develops Huntington's disease, if he or she lives long enough.
In 2006, researchers discovered that the protein expressed by the Huntington's gene interacts with another protein to disturb the way that cholesterol accumulates in the brain. Cholesterol is essential for healthy brain cells and the network among those brain cells — but the cholesterol needs to be in proper levels and in the proper locations. When the network of brain cells is disrupted, motor skills, cognitive skills and speech can be affected. If scientists can figure out a way to disrupt this interaction between the proteins, they may eventually be able to develop a targeted drug therapy. |
| Diagnosis |
To determine whether you may have Huntington's disease, your doctor performs a physical exam and obtains your medical history and that of your family. He or she may also ask about any recent emotional or intellectual changes you have had. A computerized tomography (CT) or magnetic resonance imaging (MRI) scan may show any changes to your brain's structure. Your doctor may suggest a blood test to determine whether you carry the defective gene.
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| Treatment |
People who have Huntington's disease eventually become physically and mentally disabled. As the disease progresses, long-term nursing home care may be necessary.
No satisfactory treatment is available to stop or reverse Huntington's disease, but some approaches can control signs and symptoms.
Medications
Tranquilizers such as clonazepam (Klonopin) and antipsychotic drugs such as haloperidol (Haldol) and clozapine (Clozaril) can help control movements, violent outbursts and hallucinations. While these medications can be helpful, a common side effect is sedation, and in some cases, these medications may cause additional stiffness and rigidity.
Various medications, including fluoxetine (Prozac, Sarafem), sertraline (Zoloft) and nortriptyline (Aventyl, Pamelor), can help control depression and the obsessive-compulsive rituals that some people with Huntington's disease develop. Medications such as lithium (Eskalith, Lithobid) can help control extreme emotions and mood swings.
Side effects from many of the drugs used to treat the symptoms of Huntington's disease may include hyperexcitability, fatigue and restlessness.
Speech therapy
Huntington's disease can impair your speech, affecting your ability to express complex thoughts. You may find that speech therapy helps. Remind friends, family members and caregivers that if you don't speak, it doesn't necessarily mean that you don't understand what's going on. Ask people to continue talking to you and keep your environment as normal as possible.
Physical and occupational therapy
Physical therapy can help keep muscles stronger and more flexible, which helps maintain balance and may lessen the risk of falling. Occupational therapy can help make your home safer and give you strategies for coping with memory and concentration problems. Later in the disease, occupational therapy can assist you with eating, dressing and hygiene challenges.
Experimental treatments and new research
Scientists are working to try to come up with new treatment to slow the course of Huntington's disease. One promising area of research is the combination of certain cancer and AIDS drugs. This combination has halted the progress of Huntington's in fruit flies. No clinical research has yet been done on humans, however. Other research found that coenzyme Q10 was helpful in animal studies. This treatment hasn't been studied in humans yet either.
While not specifically approved for use in people with Huntington's disease, some doctors are using botulinum toxin injections in certain areas, such as the jaw, to relieve involuntary muscle clenching.
Discuss any treatment, even over-the-counter supplements, with your doctor first |
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