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Huntington's disease
Published by Bupa's Health Information Team, April 2010.
This factsheet is for people who have Huntington's disease, or who would like information about it.
Huntington's disease is an inherited disorder that causes degeneration of brain cells. This results in a progressive loss of mental ability, control of movement, and changes in personality.
About Huntington’s disease
Symptoms of Huntington's disease
Causes of Huntington's disease
Diagnosis of Huntington's disease
Treatment of Huntington's disease
Special considerations
About Huntington’s disease
Huntington's disease causes progressive damage to cells in areas of your brain called the basal ganglia and cerebral cortex. These areas are involved in your control of movement, planning, motivation and personality.
Huntington's disease usually develops between the ages of 30 and 50, but it can start at any age. Symptoms, which differ from person to person, get gradually worse, sometimes over a period of up to 20 years.
Huntington’s disease was previously called Huntington's chorea. Chorea means jerky, involuntary movements – a main symptom of the condition.
Juvenile Huntington's disease
Juvenile Huntington's disease is a type of Huntington’s disease that develops before you’re 20 and is usually more severe. It affects around five to 10 in 100 people with Huntington's disease.
Symptoms of Huntington's disease
The early symptoms of Huntington's disease are sometimes overlooked. This is because they are mild at first and people without the disease can have the same symptoms.
You may have symptoms of Huntington’s disease for a long time before you find out you have the condition.
Early symptoms include:
- mild tremor
- clumsiness
- lack of concentration
- irritability
- short-term memory problems
- mood changes
- depression
If you have these symptoms, see your GP.
Later symptoms fall into three categories. Over time these symptoms get worse and eventually you will need full-time nursing care.
Physical symptoms
Physical symptoms include chorea (involuntary movements of your limbs, face and body). Chorea may lead to difficulty walking, speaking and swallowing. You may lose weight because you’re having difficulty eating and drinking and because you’re burning more calories due to the continuous movement. Your ability to co-ordinate your movement will get gradually worse as the disease progresses.
Emotional symptoms
Emotional symptoms include depression, not only because of the burden of having a progressive disorder, but as a direct result of the damage to certain brain cells. You may become frustrated at being unable to work or do previously simple tasks. You may behave stubbornly, have mood swings, become more irritable and antisocial than usual, or have fewer inhibitions.
Behavioural symptoms
Behavioural symptoms include a loss of drive and initiative. You may appear lazy or uninterested in life, spending days doing little or neglecting your personal hygiene. You may also lose the ability to organise yourself and do more than one task at once. In the later stages of the disease, you may have memory loss and be less able to understand speech.
The behavioural symptoms of Huntington’s disease are often the most distressing for you, your family and your carers. Your personality can become gradually more self-centred and unmotivated, putting a strain on personal relationships.
Symptoms of Juvenile Huntington’s disease
Symptoms are similar to those of Huntington's disease, but muscular rigidity (stiff muscles) is more common and involuntary movements are less likely.
If you have juvenile Huntington’s disease you will usually first develop symptoms in your teens. You may be irritable and aggressive and start to act out of character, possibly displaying inappropriate social or sexual behaviour.
Causes of Huntington's disease
Huntington's disease is caused by a faulty gene that runs in families. The gene produces a protein called Huntingtin. Scientists are still researching how this faulty gene causes the disease.
Most of your genes are present in two copies: one from your mother and one from your father. The faulty gene that causes Huntington's disease is dominant. This means that if you inherit a copy of this gene from either parent, you will go on to develop the disease at some point in your life.
If you have one parent with Huntington's disease, you have a one in two chance of inheriting the faulty gene. The risk is one in two for each child.
Around three in 100 people with Huntington’s disease appear to have no family history of the condition. This may be because relatives from previous generations weren't diagnosed – either because of early death from other causes, or loss of contact, for example through adoption.
Diagnosis of Huntington's disease
Genetic tests can show whether you have the faulty gene that causes Huntington’s disease. They fall into three categories: diagnostic, pre-symptomatic and antenatal.
Diagnostic tests
These tests are carried out if you have symptoms of Huntington's disease. You will have two blood tests. The results of these tests will take between four and six weeks to come back. You will be offered counselling before you have the blood tests.
Pre-symptomatic tests
These tests are carried out if you have no symptoms of Huntington's disease, but you have family members who are affected by it. The tests will show whether or not you will develop the disease, but not when it will happen.
The decision to have these tests is a serious one and you’re advised not to rush into making a decision. A positive result can be devastating as it means that one day you will become seriously ill. Many people prefer not to find out and instead aim to live their lives to the full. There are also issues surrounding testing if your parents haven’t been tested, as if you have a positive result this means that one of your parents also has the faulty gene.
You will need to take advice from a genetic counsellor about the implications of taking the test before you go ahead. In the UK you can't have pre-symptomatic tests if you’re under 18.
Antenatal tests
These tests can be carried out on your unborn baby if your family is affected by Huntington's disease. Antenatal tests are done at the end of the first trimester (first 12 weeks) of pregnancy. They can be used to calculate the risk of your child going on to develop the disease in their adult life. You will be offered counselling before you have antenatal tests.
Treatment of Huntington's disease
At the moment, there is no cure for Huntington’s disease, but there are ways to manage the symptoms.
You may be prescribed medicines to reduce the involuntary movements, and alleviate depression. Mood stabilisers and antipsychotic medicines can also help with some of the emotional disturbances.
Other ways of managing your symptoms include the following.
- Speech and language therapists can help improve your communication and help you to swallow.
- Dieticians can advise you on adequate calorie and nutrient intake to stop weight loss.
- Occupational therapists can provide you with equipment to help you eat, such as non-slip mats and straws, and help make your home safe by adapting it to your needs.
- Physiotherapists can help with any balance or musculoskeletal problems.
Counselling and support groups can be helpful, both for you and your family.
Special considerations
Having a baby
If you know that you carry the gene for Huntington's disease, you can choose to have in-vitro fertilisation (IVF), where embryos are tested for the Huntington’s disease gene, and only those that don't carry the faulty gene are placed in your womb. This is called pre-implantation genetic diagnosis.
In the UK, pre-implantation genetic diagnosis is only available to parents who already know whether or not they carry the gene for Huntington's disease, at certain clinics licensed by the Human Fertilisation and Embryology Authority.
Future promise
Scientists are investigating several medicines that could slow the progress of Huntington's disease. Some of these have shown promise and are being tested in clinical trials. Examples include an antibiotic medicine called minocycline and the nutritional supplement, coenzyme Q10.
Some clinical studies have used stem cells (the most basic form of cells from which others develop) to grow cells that can be transplanted into the brain of people with Huntington’s disease to improve their outlook. However, research is still in the very early stages.
Scientists are also hopeful that research into RNA interference (RNAi), which can potentially shut off any gene in the body, may lead to an effective treatment in the future.
This section contains answers to common questions about this topic. Questions have been suggested by health professionals, website feedback and requests via email.
I have the faulty gene that causes Huntington’s disease. Is there any way to prevent the condition developing?
What is involved in genetic testing?
My parents don't have Huntington's disease and there is no history of it in my family, but my dad's sister has just been diagnosed with it. Am I at risk?
How long do people with Huntington's disease live for?
How can I tell my child that I have the gene for Huntington’s disease?
I have the faulty gene that causes Huntington’s disease. Is there any way to prevent the condition developing?
No, if you have inherited the faulty gene, you will eventually develop the disease at some point.
Explanation
Genes are bits of code inside each of your cells that tell them what to do. Your genes determine your characteristics such as your hair and eye colour and act as a plan for how your body grows and develops. In particular, each gene acts as an instruction for your cells on how to make proteins – the building blocks of body tissues such as your muscle, skin and nerves. Different genes are active or inactive – 'turned off' – in different cells throughout your life.
In Huntington's disease, a faulty gene leads to production of a harmful protein called huntingtin in your brain. This faulty gene is called a mutation and it can vary in length. The length of the mutation has an effect on the age at which you develop the disease and how severe it is. The smaller the mutation, the more likely it’s that you won't develop the disease until later and your symptoms may be milder. The size of the mutation can change between generations. Rarely, some children develop symptoms aged just two while some adults show symptoms only in their eighties, though most people begin to show symptoms between the ages of 30 and 50.
Currently there is no way to turn off the faulty gene and stop your cells making the harmful protein. Research into a treatment called RNA interference (RNAi) is trying to find a way of doing this, but it may be many years before an effective treatment that prevents or treats Huntington's disease is developed.
Sources
- About Huntington’s disease. Huntington's Disease Association. www.hda.org.uk, accessed 2 December 2009
- What is Huntington's disease? Huntington’s Disease Society of America. www.hdsa.org, accessed 2 December 2009
- Therapies in the pipeline. Huntington’s Disease Society of America. www.hdsa.org, accessed 2 December 2009
- Farah MH. RNAi silencing in mouse models of neurodegenerative diseases. Curr Drug Deliv 2007; 4:161-67. DOI:10.2174/156720107780362276
What is involved in genetic testing?
If you're over 18 and Huntington’s disease runs in your family, you can choose to have a genetic test to find out whether you’re carrying the faulty gene. Two samples of blood will be taken from a vein in your arm. Your blood is then tested in a laboratory to look for the faulty gene.
Explanation
Finding out that you have the gene for Huntington's disease can be very difficult to come to terms with. Some people decide not to be tested because they don’t want to know about something they can't change.
However, if you're over 18 and have decided that you do want to find out, ask your GP to arrange an appointment at the genetics clinic in your region. The decision to be tested should be voluntary – don't feel under pressure from anyone else.
At the clinic you will first have around three sessions of counselling. This will involve talking about how you would cope with any bad news, who you would pass on news of the results to and how.
This type of testing can be emotionally very difficult. The results may offer great relief if they are negative, but if positive, they may change your views on your future, for example, having children.
If you decide to go ahead with the tests, it will take four to six weeks for the results to come back. If the results come back positive, you will be offered further counselling.
Further information
Human Fertilisation and Embryology Authority
www.hfea.gov.uk
The British Society for Human Genetics
www.bshg.org.uk
Sources
- Guidelines for the molecular genetics predictive test in Huntington's disease. International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. www.hgsa.com.au, published 25 February 2001
- Predictive testing for Huntington's disease. Huntington's Disease Association. www.hda.org.uk, accessed 2 December 2009
- Diagnosis of Huntington’s disease. Clinical Knowledge Summaries. www.cks.nhs.uk, accessed 2 December 2009
- Pre-conception – advice and management. Clinical Knowledge Summaries. www.cks.nhs.uk, accessed 2 December 2009
- Pre-implantation genetic diagnosis. Human Fertilisation Embrylogy Authority.
www.hfea.gov.uk, accessed 2 December 2009
My parents don't have Huntington's disease and there is no history of it in my family, but my dad's sister has just been diagnosed with it. Am I at risk?
There is a risk, but it's much lower than if one of your parents is affected. You will need to discuss your individual circumstances with a genetic counsellor.
Explanation
The gene that causes Huntington's disease comes in different forms. It seems that the longer the gene, the more likely it is to cause Huntington's disease. In some people, the gene is not quite long enough to trigger the disease. The gene can also be unstable, which means that instead of passing on an exact copy of their own gene, a parent passes on a longer or shorter version. When a longer version is passed on in this way, an unaffected parent can have a child who carries the faulty Huntington gene and who goes on to develop the disease. This helps to explain why Huntington's disease can appear in a family where nobody has previously had the condition.
If your father's sister is affected by Huntington's disease, it's possible that your father could be carrying the unstable form of the gene. You may wish to consider having genetic counselling and testing. Speak to your GP for advice.
Sources
- Walker, FO. Huntington's disease. The Lancet 2007; 369:218-28 DOI:10.1016/S0140-
6736(07)60111-1
How long do people with Huntington's disease live for?
People with Huntington's disease usually live for 15 to 20 years after the first symptoms develop.
Explanation
The age that a person starts to be affected by Huntington’s disease is linked to the length of the faulty gene that causes it. The longer the gene, the earlier the symptoms will start and the younger the onset, the more rapid the progression. However, generally the survival time from the first symptoms is around 15 to 20 years. As the disease progresses, poor co-ordination, falls, malnutrition and exhaustion become increasingly serious and death is generally caused by heart failure or pneumonia.
Sources
- Walker, FO. Huntington's disease. The Lancet 2007; 369:218-28. DOI:10.1016/S0140-6736(07)60111-1
- Gil JM, Rego AC. Mechanisms of neurodegeneration in Hungtington’s disease. Eur J Neurosci 2008; 27:2803-20. DOI:10.1111/j.1460-9568.2008.06310
- What is Huntington's disease? Huntington’s Disease Society of America. www.hdsa.org, accessed 2 December 2009
How can I tell my child that I have the gene for Huntington’s disease?
It can be very difficult explaining to a child about Huntington’s disease. You will need to consider the effects of the disease on you as a parent and how it can be passed on genetically.
Explanation
There is never a right time to tell your child that you have the gene for Huntington’s disease and that they have a chance of carrying it. But it’s important not to avoid the subject because your child will learn about it one day and may be angry that you didn’t talk to them beforehand.
Research shows that adults who weren’t told as children often feel angry and resentful that the information was hidden from them. As adults we make decisions based on our hopes for the future, but knowing that we may have a chance of developing a genetic illness changes major life decisions, such as getting married and having children.
Being honest and open with your children will help them make decisions about their own future, as well as coming to terms with and coping with your illness.
How you go about telling your child will depend on his or her age and whether or not you have started to develop symptoms. You may want to write down some questions that you think your child may ask and research the answers so that you are well prepared.
Children can be very resilient and adaptable and you may be surprised how well your child copes when you tell him or her.
If you feel you want some support to tell your child, the Huntington’s Disease Association has a team of regional care advisers and genetic counsellors who can help you and your child.
Further information
Huntington’s Disease Association
0151 298 3298
www.hda.org.uk
Sources
- Talking to children about Huntington’s disease. Huntington’s Disease Association
www.hda.org.uk, 2 December 2009
This information was published by Bupa's Health Information Team and is based on reputable sources of medical evidence. It has been peer reviewed by Bupa doctors. The content is intended for general information only and does not replace the need for personal advice from a qualified health professional.
Publication date: April 2010.
Huntington’s disease factsheet
Visit the Huntington’s disease health factsheet for more information.
Related topics
Assisted conception
Depression
Epilepsy
Further information
-
Huntington's Disease Association
0151 298 3298
www.hda.org.uk -
Scottish Huntington's Association
0141 848 0308
www.hdscotland.org
Sources
- Walker FO. Huntington's disease. The Lancet 2007; 369:218-28
DOI:10.1016/S0140-6736(07)60111-1
- What is Huntington’s disease? Huntington's Disease Association. www.hda.org.uk, accessed 1 December 2009
- The early symptoms of Huntington's disease. Huntington's Disease Association. www.hda.org.uk, accessed 1 December 2009
- HD progression. Huntington's Disease Association. www.hda.org.uk, accessed 1 December 2009
- What causes HD? Huntington's Disease Association. www.hda.org.uk, accessed 1 December 2009
- Juvenile Huntington’s disease. Huntington's Disease Association. www.hda.org.uk, accessed 1 December 2009
- Challenging behaviour in juvenile HD. Huntington's Disease Association. www.hda.org.uk, accessed 1 December 2009
- Diagnosis of Huntington’s disease. Clinical Knowledge Summaries. www.cks.nhs.uk, accessed 1 December 2009
- Predictive testing for Huntington’s disease. Huntington's Disease Association. www.hda.org.uk, accessed 1 December 2009
- Treatment for Huntington’s disease. Huntington's Disease Association.
- www.hda.org.uk, accessed 1 December 2009
- HD Research – past and future. Huntington’s Disease Society of America. www.hdsa.org, accessed 1 December 2009
- Therapies in the pipeline. Huntington’s Disease Society of America. www.hdsa.org, accessed 1 December 2009
- General information about Huntington’s disease and the Huntington’s Disease Association. Huntington’s Disease Association. www.hda.org.uk, published January 2010
- Advice on seating, equipment and adaptations. Huntington’s Disease Association. www.hda.org.uk, published January 2010
This information was published by Bupa's Health Information Team and is based on reputable sources of medical evidence. It has been peer reviewed by Bupa doctors. The content is intended for general information only and does not replace the need for personal advice from a qualified health professional.
Publication date: April 2010.
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