- HUNTINGTON’S DISEASE
Meaning:
Huntington’s Disease (HD) is a progressive brain disorder caused by an inherited defect in a single gene. It is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder. It is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. The defective gene codes the blueprint for a protein called huntingtin. Defective huntingtin protein leads to changes in the central area of the brain, that cause abnormal involuntary movements, a severe decline in thinking and reasoning skills, and irritability, depression, and other mood changes. It has a broad impact on a person’s functional abilities.
Symptoms:
Symptoms of Huntington’s disease usually develop between ages 30 and 50, but they can appear as early as age 2 or as late as 80. The hallmark symptom of Huntington’s disease is uncontrolled movement of the arms, legs, head, face, and upper body.
Huntington’s disease also causes a decline in thinking and reasoning skills, including memory, concentration, judgment, and ability to plan and organize. Huntington’s disease brain changes lead to alterations in mood, especially depression, anxiety, and uncharacteristic anger and irritability. Another common symptom is obsessive-compulsive behavior, leading a person to repeat the same question or activity over and over.
Early onset of Huntington’s disease is less common. Symptoms usually start to appear during childhood or adolescence. Early-onset Huntington’s disease causes mental, emotional, and physical changes, such as:
- drooling
- clumsiness
- slurred speech
- slow movements
- frequent falling
- rigid muscles
- seizures
- sudden decline in school performance
Adult onset is the most common type of Huntington’s disease. Symptoms usually begin when people are in their 30s or 40s. Initial signs often include:
- depression
- irritability
- hallucinations
- psychosis
- minor involuntary movements
- poor coordination
- difficulty understanding new information
- trouble making decisions
Symptoms that may occur as the disease progresses include:
- uncontrolled twitching movements, called chorea
- difficulty walking
- trouble swallowing and speaking
- confusion
- memory loss
- personality changes
- speech changes
- decline in cognitive abilities
After Huntington’s disease starts, a person’s functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from disease emergence to death is often about 10 to 30 years. Juvenile Huntington’s disease usually results in death within 10 years after symptoms develop.
The clinical depression associated with Huntington’s disease may increase the risk of suicide. Some research suggests that the greater risk of suicide occurs before a diagnosis is made and in the middle stages of the disease when a person starts to lose independence.
Eventually, a person with Huntington’s disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. Someone with Huntington’s disease is generally able to understand language and has an awareness of family and friends, though some may not recognize family members.
Cure and how to take care of the person:
There is currently no cure for Huntington’s disease and no way to slow or stop the brain changes it causes, but medications are available to help manage the symptoms of Huntington’s disease. But treatments cannot prevent the physical, mental, and behavioral decline associated with the condition.
Other Huntington’s symptoms, such as anxiety, depression, and insomnia, also should be treated according to generally accepted guidelines. Experts encourage people with Huntington’s to keep all their medical appointments and not to get discouraged if it takes their healthcare team some time to find the best drugs and the most effective doses.
A diagnostic genetic test is available, the test can confirm that the defective gene for huntingtin protein is the cause of symptoms in people with suspected Huntington’s disease and can detect the defective gene in people who do not yet have symptoms but are at risk because a parent has Huntington’s.
Experts strongly recommend:
- A person consider professional genetic counselling both before and after genetic testing for Huntington’s disease.
- If a person is having trouble coping with their condition, help them join a support group. It can help to meet other people with Huntington’s disease and share the concerns.
- If a person needs help performing daily tasks or getting around, contact the health and social service agencies in their area. They might be able to set up daytime care.
It is not easy dealing with such a disease, yet some people with the Huntington’s disease have managed to leave their footprint on this world before leaving.
Marianna Bronislawa Barbara Palka, born and brought up in Glasgow, Scotland is a celebrity actress, screenwriter, producer, and director. Unlike most of Huntington’s disease patients, Marianna knew that she was at a 50 percent risk of inheriting this fatal disease. She knew someday in the future, the symptoms might just show up. In a short documentary film called “The Lion’s Mouth Open”, Lucy Walker recreates the courageous moments Marianna actually lived while going through the tough period of finding out the results of her genetic test.
Woody Guthrie was an American musician and a celebrity songwriter; well known for his song “This Land Is Your Land”. He was born in Okema, Oklahoma. In the late 1940s, Woody’s behavior became extremely intolerant and violent, which begin to affect his relationships and work. The real cause of his illness was unknown until 1952 when he was eventually diagnosed with Huntington’s disease. Unable to control his muscles, his condition got worse and he was hospitalized numerous times, and finally took his last breath at the age of 55.
These celebrities are an inspiration to those currently battling Huntington’s disease.
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