HUNTINGTON'S DISEASE
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What is Huntington's Disease?
Huntington's disease (HD) is degeneration of the brain cells causing uncontrollable movements, loss of intellectual abilities and emotional disturbances.
It's a genetical disease, a mutation in the normal gene.
Each child of an HD parent has a 50-50 chance of inheriting the HD gene.
If the gene isn't inherited the person won't get the disease and can't pass it to the children.
If the gene is inherited the person will develop the disease, at an unknown age.
In many cases the first symptoms of the disease slip in unnoticed: mood swings, depression, irritability often are ascribed to other causes.
Many problems have to do with failing concentration: remembering becomes difficult, making decisions, learning new things.
At that stage motoric problems become clear too: problems eating, swallowing.
For each individual the onset and progression of the disease is different
For a full diagnosis a complete medical history and neurological and laboratory tests are needed.
People who are at risk can be tested before the onset of symptoms.
One to two percent of the people with the disease have no previous cases in the family.
Treatment
The best treatment is to keep as healthy as possible.
People who are physically and mentally fit experience less problems.
There are medications to control the emotional and motoric problems, but they have unwanted side-effects like fatique, restlessness, hyperexcitability.
It's always important to be aware not to get in a vicious circle of side-effects causing less sleep and such and thus adding to the development of the disease.
Prognosis
At the moment the disease can't be cured, nor reversed.
Some of the symptoms can be treated rather well, others are more difficult to treat.
The gene that is responsible for the disease is located, so now scientists can work on understanding the way the gene acts.
Many researchgroups all over the world are working from different perspectives.
One of the groups has discovered that some ill-developed proteins enhance the development of the disease, but when they form large clumps they might prevent progression.
Problems with disabling diseases like these is that people clamp on to every possible spark of hope.
Often researchlines don't reach the stage of researching a cure.
People often don't realise that a theoretical therapy needs full research.
Most times on research animals, to see if the theory fits in a living being.
If it proves save and working, a small number of healthy people will be tested and evaluated, then large numbers and large numbers of true patients. Only after that the treatment becomes available.
In most countries a drug administration reviews all the research and then decides if it becomes available as acceptable treatment in that country.
That means years and years of hard work.
The more money is available, the better the research can be done.
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