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Huntington’s Disease, sometimes called Huntington’s Chorea or just Huntington’s, is a genetic disorder which affects the brain. The name ‘Huntington’s Chorea’ describes the kind of involuntary fidgety movements people with Huntington’s disease experience. Huntington’s disease is a neurodegenerative disease, which means that it causes gradual degradation to the nerve processes of the brain. Huntington’s causes progressive deterioration and is severely life-limiting.
Huntington’s disease is caused by a defective gene in a person’s DNA. Someone with the gene for Huntington’s will at some point develop Huntington’s disease. It is almost unknown in people who have no family history of Huntington’s disease, and where people do develop it without having a parent who was known to have had it, that is nearly always thought to be simply because that parent died of another cause before developing it.
Huntington’s is an inherited genetic disorder. If one parent has Huntington’s disease, each of their children has a 50% chance of inheriting the gene. Each child with the gene has a 50% chance of passing it on to each of their own children, and so on. People who do not have the gene for Huntington’s disease cannot pass the disease on to their children, even if they have other close family members with the disease. Huntington’s disease is much more common in people of white European descent than any other population in the world. It can affect men and women equally.
People with the Huntington’s gene defect usually begin to show symptoms between the ages of 30 and 50, although sometimes onset can be much later in life. Occasionally Huntington’s symptoms begin earlier in life. If it develops in someone aged 20 or under it is referred to as juvenile Huntington’s disease.[i]
Once Huntington’s Disease has been diagnosed and begins to show symptoms, the symptoms get progressively worse over time. In the early stages, symptoms include:
Huntington’s ‘chorea’ develops in the early to intermediate stages of the disease; this is the characteristic involuntary movement of the head, arms, legs, and torso.
Depression is a very common symptom of Huntington’s; this is partly due to the physical changes in the brain, and often partly due to the impact of the disease on a person’s life and lifestyle as well as the symptoms and anticipation of a degenerative disease.
As the disease progresses, it affects more and more of a person’s cognitive function and control over almost all physical functions. Compromised swallow can make people with Huntington’s disease prone to malnutrition, dehydration, and aspiration pneumonia, which contribute to the most common causes of death for people with Huntington’s Disease.
Huntington’s disease is often described by ‘stages’[ii], which follow a fairly predictable pattern of progression. The length of time it takes to progress through the stages after diagnosis can vary from person to person, but life expectancy after diagnosis is rarely more than 20 years. The stages we describe start from the time of the first symptoms, though the gene is present from the earliest stages of foetal development, and the changes in the brain which cause the disease begin long before symptoms appear.
We refer to the first symptoms of Huntington’s as ‘stage 1’. Symptoms may be mild but with a family history or positive genetic test for Huntington’s disease, anyone beginning to have symptoms of memory loss, confusion or altered gait should have a low threshold for seeking medical advice.
Some early symptoms which could be due to Huntington’s disease might also be symptoms of other conditions, so it’s important to see a doctor for an accurate diagnosis and appropriate treatment.
Problems with memory, cognitive ability, mood and behaviour mean that some support may begin to be required for normal activities. Sometimes a little prompting for memory problems or having general support around can be helpful, and some assistance with mobility and movement might be needed. Depending on the nature of the job, some people are able to continue to work in the early intermediate stage, if adjustments can be made to support them.
Changes in mobility and involuntary movements usually become more pronounced in the middle stage of Huntington’s. Sometimes this can begin to affect swallowing ability, and the combination of lots of uncontrollable movements burning calories and worsening swallowing difficulties can cause significant weight loss. A speech and language therapist can help find the right texture and techniques for managing food and drink, and a dietitian can give recommendations on the kind of high-calorie foods that might be best from this stage on.
Moving into the advanced stages of Huntington’s disease usually means becoming more reliant on others for more and more of the things that would normally be done independently. Washing, dressing, and other self-care activities may need some support, and deficits in functional ability will become more pronounced. People entering the advanced stages of Huntington’s will need help with household tasks such as shopping, cooking, cleaning, and managing finances.
As the early advanced stage of Huntington’s progresses, it’s important to think about the future, and to anticipate the kind of increasing care needs that will be required as time goes on. There may be a time when having care from family members or drop-in carers is no longer enough, and decisions have to be made about having full-time care.
In the most advanced stage of Huntington’s disease, people usually have almost no control over their movements and body functions and have significant cognitive impairment. This means they may be unable to effectively communicate at all; they may have serious problems swallowing and be prone to conditions associated with immobility, malnutrition, and dehydration. The last stages of Huntington’s disease can last months or years, during which time the person with the disease will need full time nursing care. Sensitive care and good management of symptoms to maintain comfort and dignity is the main aim of any interventions at this stage.
A person with advanced Huntington’s will be expected to reach the end of their lives from simple disease progression or complications. Pneumonia is the most common cause of death for people with Huntington’s disease.[iii]
There is currently no cure for Huntington’s disease, and no way to stop the progression of the disease. Many of the symptoms of Huntington’s can be managed and the aim of treatment for people with Huntington’s disease it to preserve quality of life for as long as possible.
People with Huntington’s disease may take antidepressants and mood stabilisers for some of the mood and behavioural changes that can accompany the disease. Medications are also available which can help reduce the involuntary movements that people with Huntington’s develop. Other health problems that can arise with or without Huntington’s disease also need to be managed alongside the condition.
Huntington’s causes movement disorders, and physiotherapists can recommend exercises, techniques, and mobility aids to support people with Huntington’s disease to stay as independent as possible for as long as possible. Physiotherapists also help to manage chest conditions in later stages of the disease when it becomes difficult to control swallowing, coughing, and deep breathing.
Occupational therapists help people find adaptations to continue living independently or to find the right support for their progressing disease. Examples of aids provided by occupational therapists could be grab rails around the house for mobility support in early stages, or in the later stages of the disease, a pressure-relieving and position-changing hospital bed.
Although the condition is always progressive and degenerative, there is some evidence that staying otherwise fit and active helps symptoms stay milder for longer.[iv]
A healthy diet is always recommended for prevention of many serious conditions. With Huntington’s disease in particular, rapid and uncontrollable weight loss is very common due to the near-constant involuntary movements. People with Huntington’s can burn up a lot more calories in a day that the average person, so a high calorie diet is essential[v]. In the later stages swallowing can be affected, and a speech and language therapist can recommend different textures and types of food and drink to reduce the risk of aspiration pneumonia, malnutrition, and dehydration.
We know that Huntington’s Disease is passed on from parents to their children, and there is a 50% chance of inheriting the disease if a person has one parent with Huntington’s. There are now tests which can show whether a person has inherited the gene for Huntington’s Disease, and most people in the UK with a close family member who develops Huntington’s Disease will be offered this test.[vi] Having a test which shows the likelihood of developing a serious, life-limiting disease is naturally a highly emotive and possibly life-changing process, and clinical counselling should be offered alongside diagnostic tests.[vii]
Not everyone at risk of Huntington’s Disease will decide that they want to have a test, but some people find that it helps them to plan for their future life. It’s also possible to choose to have the test at a later date, perhaps when considering a pregnancy or if they become worried about symptoms.
People who have the gene for Huntington’s disease and who are planning a family have several options to ensure that the gene isn’t passed on
After a diagnosis of Huntington’s disease, the prognosis is fairly clear; from the onset of symptoms there is normally a life expectancy of 10 to 20 years. Some people progress through the stages faster than others, but anyone with Huntington’s disease should expect to need full time care at some stage of their disease.
Choosing an appropriate care setting is important, and many people try to stay at home for as long as possible. For most, this is only possible with round-the-clock carers, and full time care packages are available for people with extensive care needs at home. Other care settings may be considered, and if considering care homes it’s important to understand the level of care they can provide; care homes offering residential care offer significantly different services and have a much lower ratio of staff to residents than a care home providing full nursing care.
To stay at home in the late stages of Huntington’s disease, significant adaptations need to be made to enable good nursing care to prevent complications such as pressure damage from immobility or aspiration pneumonia from compromised swallow.
After a diagnosis of Huntington’s, it is reasonable to expect that there will come a time when that person isn’t able to express their preferences or where they may be unable to make informed decisions about their care and medical treatment. Choosing someone who can act as advocate can be useful, as can an advanced statement of choices about treatment, or a living will. The sorts of treatment that will be thought appropriate might change over the course of the disease, so any advanced decisions can be flexible and updated.
Having good care at the end stages of Huntington’s disease can make a world of difference both to the person affected and those close friends and family members around them. Full time care can enable relationships to stay as normal and stable as possible, and mean support through the hardest times. Full-time care is essential to reduce the impact of serious complications of the illness, and to support everyone involved.
[i] Quarrell, O., O’Donovan, K. L., Bandmann, O., & Strong, M. (2012). The Prevalence of Juvenile Huntington’s Disease: A Review of the Literature and Meta-Analysis. PLoS currents https://doi.org/10.1371/4f8606b742ef3
[ii] Kirkwood, S. C., Su, J. L., Conneally, P. M., & Foroud, T. (2001). Progression of symptoms in the early and middle stages of Huntington disease. Archives of neurology. https://jamanetwork.com/journals/jamaneurology/article-abstract/778574
[iii] Heemskerk A, Roos RAC. (2010) Causes of death in Huntington’s disease
Journal of Neurology, Neurosurgery & Psychiatry http://dx.doi.org/10.1136/jnnp.2010.22638.4
[iv] Garcia-Gorro, C., Garau-Rolandi, M., Escrichs, A., Rodriguez-Dechicha, N., Vaquer, I., Subira, S., … & Muñoz, E. (2019). An active cognitive lifestyle as a potential neuroprotective factor in Huntington’s disease. Neuropsychologia, 122, 116-124. http://brainvitge.org/website/wp-content/uploads/2019/03/Garcia-Gorro_Neuropsychologia_2019.pdf
[v] Marder, K., Zhao, H., Eberly, S., Tanner, C. M., Oakes, D., Shoulson, I., & Huntington Study Group (2009). Dietary intake in adults at risk for Huntington disease: analysis of PHAROS research participants. Neurology. https://doi.org/10.1212/WNL.0b013e3181b04aa2
[vi] Huntington’s Disease Association (2020) Huntington’s Disease: A Genetic Testing Guide. https://www.hda.org.uk/media/2938/a-genetic-testing-guide-resource-pages.pdf