Huntington’s disease is a genetic disorder caused by a faulty gene on chromosome 4. A protein called Huntingtin usually helps nerve cells develop, but when it is faulty, it can damage them instead. This mainly occurs in the areas of the brain responsible for movement, learning, cognition, and emotions (basal ganglia and cerebral cortex). Huntington’s disease is primarily thought of as a condition of motor function—that is, it affects the person’s movement. But there can be damage to the brain, which can develop into dementia.
The first signs of Huntington’s disease are more commonly seen in the 30-50 year age group, but current research indicates that about 10% of cases can appear after the age of 60 years and 5-10% of cases under the age of 18 years (known as juvenile Huntington’s disease).
There are a range of symptoms that someone with Huntington’s disease may exhibit, including:
The person may also show signs of depression or anxiety.
A faulty gene on chromosome 4, the huntingtin gene (HTT), causes Huntington’s disease. If a person has a parent with the gene, they have a 50% chance of developing the disease.
The person with Huntington’s and their family may well have experienced the disease in other members and have fears about how this will progress and what help and support they may be able to receive. There may also be worries about any children within the family and whether or not they may eventually have Huntington’s too.
For more information, visit the Huntington’s Disease Association website.
As the disease progresses, people who have Huntington’s are increasingly likely to have involuntary movements, causing the characteristic signs (chorea) of Huntington’s disease. This can cause embarrassment, distress, discomfort and social isolation. As the disease progresses, it can also cause problems with swallowing, speech, balance and increase the risk of falls.
Research has indicated that in Huntington’s disease, the person’s cognitive processes are also affected and get progressively worse over the years, with some people going on to develop dementia in the later stages of Huntington’s.
Someone who is experiencing symptoms of Huntington’s disease will be referred to a doctor who specialises in conditions that affect the brain, a neurologist, so that they can have further tests and treatment.
If there is a familial link, you can choose to have a genetic test to see if you have the altered gene; however, you’ll need to be over 18 to have the test, and it is your choice.
An estimated 7,000 people are living with Huntington’s disease in the UK.
While there is no cure for Huntington’s disease, there are treatments to help manage the symptoms.
With Huntington’s disease, the interventions are focused on support and management of the changes; working with the person and their family to ensure they can live as well as possible with the condition. The physical effects of Huntington’s disease can be managed by:
If the person with Huntington’s has significant communication or cognitive issues they can be reduced by:
Remember that comprehension can often be well preserved even if the person cannot speak.
Some people develop dementia as a part of the progression of Huntington’s Disease, this can impact the level of support they need in their day to day life.
The progressive nature of Huntington’s disease can mean that dementia develops as the brain continues to be impacted, meaning the person will need more help in taking care of themselves, including bathing and swallowing.
During the early stages of Huntington’s disease, some people will develop symptoms of dementia such as problems with perception and difficulty with thinking that they previously wouldn’t have. They may also find concentration and planning more difficult than they did before.
If you have any concerns about symptoms that you or someone in your life is experiencing, you should visit your GP to discuss them.
Serena shares how writing poetry has helped her to process her feelings since her dad’s dementia diagnosis. She now shares her poetry as a way to honour her dad and to encourage other people affected by dementia to share their own experiences.
George shares his experience of being thrust into the role of a young carer, and the emotional journey that has followed for his family.
Jane shares her experience of attending a Nationwide dementia clinic and the lasting positive impact it has had on her and her husband, Brian, who is living with dementia.
To speak to a specialist dementia Admiral Nurse about Huntington’s disease or any aspect of dementia, please call our free Dementia Helpline on 0800 888 6678 (Monday-Friday 9am-9pm, Saturday and Sunday 9am-5pm, every day except 25th December or email helpline@dementiauk.org.
If you prefer, you can book a phone or video appointment with a specialist dementia Admiral Nurse in our virtual clinics.
Yes, there are different stages of Huntington’s Disease, early, mid and late stage, each relating to the development of the condition and its symptoms. You can find more information on the Huntington’s Disease Association website.
In rare cases, there can be a new fault in the gene that causes Huntington’s disease. There are also around 3% of cases where there is no direct familial link, however, this could be due to a lack of detection in their relatives.
No, currently Huntington’s disease cannot be prevented at this time, although research is ongoing.
