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  • Writer's pictureSinead Mackintosh

Huntington's Disease

Huntington’s disease (HD) is a progressive condition affecting the brain & muscle functioning. Signs typically begin at 35-44 yrs old, depending on family history.

Genetic Cause:

HD varies based on the family as HD is caused by changes in the huntingtin gene that makes the huntingtin protein in the brain. The difference is called a trinucleotide repeat, which means the gene is longer than usual, & the lengthening is due to extra pieces of DNA being added in groups of three.

The longer huntingtin gene makes a longer huntingtin protein. This longer protein gets cut into toxic pieces in the brain cells. The pieces accumulate & cause damage to the brain cells, which leads to the signs related to HD.

The signs of HD change as the condition progresses. Early-stage signs include clumsiness, agitation, & hallucinations. Middle-stage signs include involuntary movements, balancing, walking, & speech difficulties. Late-stage signs include problems with swallowing & difficulty starting & continuing movements. These signs are often confused with intoxication, & people with HD are wrongly judged & discriminated against.

Sadly, HD is a fatal condition with no current cure, & the average survival time is 15-18 years after early signs start.


If someone has a parent with HD, there is a 50% chance that they inherited the longer gene which will cause HD.

Genetic testing is available for HD, which looks at how long the huntingtin gene is. If a person shows signs of HD, the test is diagnostic. However, if a person wants genetic testing for HD before signs begin, it is predictive. Predictive testing is recommended to be accompanied by genetic & psychological counselling before the testing is done & when the results are given.


There is ongoing research for better treatment & hopefully a cure for HD. Current research is looking at a tablet that contains pridopidine, which binds to the outside of brain cells. This boosts certain brain chemicals that are usually reduced in people with HD. So, we are hopeful for the future of HD, but for now, it is vital to raise awareness & to be supportive & understanding of the people & the families affected by HD.

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