Huntington Disease

By: Jolie Fox

Overview

Huntington Disease is a disease that affects your motor ability, speech ability, and brain cells. It mostly affects middle age people, as it happens later in your life if you inherit it, but it can also affect younger children. There is no cure for this disease, and treatment rarely helps. About 10 to 15 years after getting the diesease death usally occurs. It also can affect both males and females equally as it is not on a sex chromosome, so even with only one parent having it, you could have it.
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How it is inherited

A person who has a parent with the gene has a 50% chance inheriting it. The HD gene is not on a sex chromosome so, just one of it is enough for you to inherit it. It also affects both males and females the same. The person could get the disease from either one of the parent. A parent who has the disease has a 50% chance passing it down, but the chances of passing it down are not affected by previous pregnancies.

The extra building block in the gene causes it to contain an extra section. With this extra section it can lead to cell death.

Research

An American doctor named George Sumner Huntington who lived 1850-1916 resarched the disease and helped with it. In a paper titled "On Chorea" in 1872 he talked about the illness. He knew the disease pretty well since he worked with many families that had it in his community. Both his dad and grandpa had practiced medicine in that same area. Because of them working with the disease also, he appreciated the heredity aspect of that illness.


In history the symptoms that show the illness has led people to put the people who show it in psychiatric hospitals. Some historians think that women who were accused of witchcraft in Salem, Massachusetts, may have shown the symptoms.

A trial transplant of new brain tissue has been tried in a few people who have the disease, the results are promising, but more experiments are needed to make sure.

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Symptoms of the disease

Huntington disease symptons have three categories, how you move, your personality change, and cognitive decline. How much it affects you vary from person to person. The first symptoms that occur are restlessness, twitching, or wanting to move around a lot. Your handwriting could become more sloppy, and your balance may get worse. Late symptoms have weird postures, like you grimacing, twisting your neck, or having an arched back. Chorea, which is when it looks like you are dancing when you don't want to starts to show. You begin to react slowly to things, you can't speak well or swallow because your throat starts to close. Your balance gets worse. In very late cases you start to go rigid. When your personality changes you could have depression, irritability, anxiety, and apathy. Apathy is where you are not interested in anything anymore. Mind changes have where you lose the ability to do tasks, you are slow to think, and can't judge things good. What could occur is short-term memory loss, but your long-term is not affected. Despite your mind declining, even if you are very late in HD you can remember the people you love.

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Tests and treatments

Someone who may eventually have HD can get a testing on their baby without finding out they have it. The test that they may get is called a linkage test which looks at the DNA close to the gene in both the parent and baby but it does not look at the letters (CAG). If the DNA patterns don't match the baby can be assumed to not have it. If the patterns match the baby probably has the same DNA as the parent. There is no cure for HD and there is no treatment that can slow the progress down. The treatment we use is to lessen the course of the disability and their symptoms. You could treat some motor symptoms with drugs, but it would not help improve them. Therapist's that helps recover daily tasks and advise that they help improve safety, accessibility, and comfort in their home. To help with swallowing you could make softer foods, blending it, or using a straw. To help with their speech you could use a picture board, speak slowly, and use easy words. When the disease is first starting, the first changes may be depression and anxiety. Having a calm, familiar, and secure environment helps as the disease goes on. Support groups could help people with the disease very much.

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