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Huntington's disease

Huntington's disease is an inherited disorder that causes progressive damage to your brain cells. This leads to problems in controlling your movements and changes in your personality and mental ability.

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 and the way you think, understand and remember.

Most people with Huntington's disease develop symptoms between the ages of 30 and 50, but it can start at any age. Symptoms differ from person to person, but get gradually worse, usually over a period of about 10 to 20 years until the person dies. According to research in the UK, it’s thought that about 12 in 100,000 people are affected by Huntington’s disease. The disease affects men and women equally.

Huntington's disease used to be called Huntington's chorea. Chorea means jerky, involuntary movements – such movements are one of the main symptoms.

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. Most people with juvenile Huntington’s disease inherit it from their dad.

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An image showing how Huntington's disease is inherited

Details

  • Symptoms Symptoms of Huntington's disease

    Symptoms of Huntington’s disease change as the condition progresses. You may not notice the early symptoms, particularly if you don’t know the condition runs in your family. You may have symptoms for a long time before you’re diagnosed and they may change and progress slowly.

    Early symptoms include:

    • uncontrollable fidgeting
    • clumsiness
    • lack of concentration
    • irritability
    • short-term memory problems
    • mood changes
    • depression 

    These symptoms are non-specific and are more commonly caused by problems other than Huntington’s disease. But if you have a combination of these, you should see your GP for advice.

    Later symptoms fall into three categories.

    • Physical symptoms mainly affect your movement.
    • Behavioural symptoms affect your mood, emotions and personality.
    • Cognitive symptoms – mainly affect the way you think, remember, learn and understand.

    Over time, you’re likely to need more care from other people.

    Physical symptoms

    The physical symptoms of Huntington’s disease include the following.

    • Involuntary fidgeting movements of your limbs, face and body are called chorea. These movements may start in your hands and feet and gradually spread to the rest of your body.
    • Difficulty in co-ordinating your movements may develop.
    • Difficulty gripping objects may cause you to become clumsy and drop things.
    • Difficulty walking may cause you to become unsteady and fall over more often.
    • Your speech may become slower and eventually others may find it difficult to understand you.
    • Difficulty swallowing can lead to food or drink going down your windpipe, causing you to choke.
    • Weight loss can happen because you're having difficulty eating and drinking, and because you're burning more calories due to the continuous movements of chorea.

    Behavioural symptoms

    Behavioural symptoms affect your mood, emotions and personality. These are often the most distressing for you, your family and your carers. Your personality can gradually become more self-centred and unmotivated, putting a strain on personal relationships.

    Changes to your mood may include depression, which is thought to be a direct result of the damage to certain brain cells. Other symptoms include:

    • change in personality, habits and interests
    • frustration at being unable to work or do simple tasks
    • paying less attention to personal hygiene
    • having mood swings
    • becoming more irritable and antisocial
    • having fewer inhibitions
    • difficulty controlling your temper
    • becoming more aggressive
    • obsessive behaviour

    Cognitive symptoms

    The cognitive symptoms of Huntington's disease affect your memory and the way you think, learn and understand. They may begin years before you notice any physical symptoms. Some people deny they have these symptoms at first because it can be hard to admit your judgement is impaired or your thinking has slowed.

    Cognitive symptoms include:

    • a loss of drive and initiative
    • more difficulty with problem-solving, judgement, attention and concentration
    • losing the ability to organise yourself and to do more than one task at a time
    • finding it difficult to put thoughts into words
    • memory loss and forgetting how to do familiar tasks

    Symptoms of juvenile Huntington's disease

    If you or your child has juvenile Huntington’s disease, the early symptoms may be a little different from those of an adult with Huntington's disease. Symptoms vary according to how old you are. A child under 10 is more likely to have muscular rigidity (stiff muscles) and less likely to have involuntary movements (chorea). Teenagers may have chorea as an early symptom.

    The first symptom of juvenile Huntington's disease is often a decline in how well you do at school, for example your grades might drop. You may find it increasingly difficult to pay attention and concentrate. Actions that were once easy may become hard – such as riding a bike, reading or swimming. You may be irritable and aggressive, or start to act out of character, possibly displaying inappropriate social or sexual behaviour.

    These symptoms may be caused by problems other than juvenile Huntington’s disease. If you or your child has any of these symptoms, see your GP for advice. Confirming a diagnosis of juvenile Huntington’s disease may be difficult and take a long time because the disease is very rare.

    Care as unique as you

    Find out more about how some Bupa care homes can provide 24-hour support for you or your loved ones living with Huntington's.

  • Diagnosis Diagnosis of Huntington's disease

    To diagnose Huntington’s disease, your GP will ask you about your symptoms and examine you. He or she will usually ask you about your medical history and that of your family. Your GP may ask you to carry out some simple tasks to assess any movement problems (chorea) that you may have.

    You may have symptoms of Huntington's disease for a long time before you’re diagnosed. Your GP may refer you to a specialist. This might be to a genetics clinic, a Huntington’s disease multidisciplinary clinic, or a neurologist or psychiatrist to confirm your diagnosis. Your doctor may be able to say that you are likely to have Huntington’s disease from your symptoms and your family history. But the only way to be sure that you have Huntington’s disease is to have a genetic test.

    The genetic tests fall into three categories: diagnostic, pre-symptomatic predictive, and prenatal. Whichever test you’re offered, you’ll be offered genetic counselling before you have the test. This is because there are lots of complex and difficult issues to discuss and consider. When you confirm your consent to having the test, the counselling team may also sign the consent form to show you’ve made a fully informed and voluntary decision.

    Diagnostic test

    This is a blood test which you may be offered if you have symptoms of Huntington's disease. Your doctor will discuss this with you and ask you if you wish to have the test or not. You don’t have to make an instant decision. You can take some time to talk to family and friends before deciding whether to be tested. You’ll have two blood samples taken to check the results. The results of this test will take between four and six weeks to come back.

    Pre-symptomatic predictive test

    This test can be carried out if you have no symptoms of Huntington's disease, but you have family members who are affected by it. It’s a big decision to make and you will be offered genetic counselling to help you decide whether to have the test. The test will show whether or not you have inherited the Huntington’s disease gene, but not when you may begin to show symptoms.

    The decision to have this test is a serious one – don’t rush into making a decision. A positive result can be devastating as it means that one day you will most likely become seriously ill. Some people want to find out so they can plan ahead, whereas others prefer not to and aim to live their lives to the full. There are also issues surrounding testing if your parents haven't been tested. This is because if you have a positive result, it means that one of your parents also has the faulty gene, even if they don’t yet have any symptoms. If you do decide to have the test, you will be offered counselling afterwards too.

    In the UK, you can't usually have pre-symptomatic tests if you're under 18.

    Prenatal test

    If your family is affected by Huntington's disease you can choose to have a prenatal test to see if your unborn baby carries the faulty gene. Your genetic counsellor will explain the implications of the test and offer you support in making your decision. The test is only carried out if you are willing to terminate your pregnancy if the result is positive. This is to prevent a child from growing up with the knowledge that they have a terminal illness without giving their consent. A prenatal test is usually done between week 11 and 13 of your pregnancy.

    For more information about what a prenatal test involves, please see our FAQs.

  • Care for Huntington’s disease

    At a Bupa care home, we aim to give you the best level of care and support for you or your loved one.

  • Treatment Treatment of Huntington's disease

    At the moment, there’s no cure for Huntington's disease, but there are ways to try and help manage your symptoms. Once a diagnosis is made, you’ll be referred to a Huntington’s disease multidisciplinary clinic. This is a centre where a number of different health professionals work together as a team to help you and your family.

    Your neurologist may prescribe you medicines to reduce your involuntary movements (chorea). There are various medicines available. They may have side-effects which will be monitored by your doctor or specialist. Medicines include those that contain haloperidol or trifluoperazine.

    You may also be offered antidepressants and counselling to treat depression if you have it. Lots of people benefit from this, particularly from the counselling. Mood stabilisers and antipsychotic medicines may also help with some of the emotional disturbances that you may have.

    At the multidisciplinary clinic, the following members of the team may become involved in your care.

    • Speech and language therapists can help improve your communication and help you to swallow.
    • Dietitians can advise you on getting enough calories and nutrients to help stop weight loss.
    • Occupational therapists can provide you with equipment to help you eat, such as non-slip mats and straws. They can help to make your home safer by adapting it to your needs.
    • Physiotherapists can help with any balance or musculoskeletal problems.
    • Clinical Nurse Specialists can provide emotional and practical support, relating to Disability Allowance and other benefits. They can also make referrals to psychological support services if you need them.

    Counselling and support groups can be helpful, both for you and your family.

  • Late stages Late stages of Huntington’s disease

    Not everyone who has Huntington’s disease follows an identical path in the later stages of the condition. But it’s likely that you’ll have a period, perhaps of some years, where you need care from others. As your symptoms get worse, you’ll probably have increasing difficulty with normal daily functions such as speaking, eating, walking and caring for yourself physically. Any behavioural problems you have may change or even lessen as your thinking (cognitive) abilities decline.

    Your care may be provided by your family and friends or by your team at a Huntington’s disease multidisciplinary clinic. This is a specialty clinic that provides comprehensive co-ordinated care for people with Huntington’s disease. Changing and increasing the level of care you have may help you to maintain more independence and help your family to cope as your disease progresses. Most people with Huntington’s disease need residential care of some sort towards the end of their life.

  • Causes Causes of Huntington's disease

    Huntington's disease is caused by a faulty gene that runs in families. The fault in this gene is that it is longer in people with Huntington’s disease,than in people without the disease. The longer the faulty gene, the more chance you have of developing the disease and passing it on to your children. Also, the longer your faulty gene, the earlier your symptoms may start. The gene produces a protein called Huntingtin. Scientists are still researching how this faulty gene causes the disease.

    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’ll 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 every child who has one parent with Huntington’s disease.

    An image showing how Huntington's disease is inherited

    Around five in 100 people with Huntington's disease have no known family history of the condition. This may sometimes be explained by the early death of an affected parent, by adoption or even by mistaken paternity. These days, genetic testing is very reliable, making it easier to get a diagnosis. Only a small number of people with Huntington’s disease really do have no family history of the condition.

  • Special considerations Special considerations

    Having a baby

    If you know that you or your partner are at risk of Huntington's disease and don’t want to know if you actually carry the gene, you can choose to have a procedure called pre-implantation genetic diagnosis (PGD). You will be offered PGD as part of in vitro fertilisation (IVF) which in this case is used even if you don’t have fertility problems. Your embryos are tested for the Huntington's disease gene and only those that don't carry the faulty gene are placed in your womb. Your baby will not then be at risk of having Huntington’s disease. You’ll be offered counselling to help you through the procedure.

    In the UK, pre-implantation genetic diagnosis is only available at certain clinics licensed by the Human Fertilisation and Embryology Authority.

    Research

    A lot of research is going on to try and understand Huntington’s disease better, to help control the symptoms and, eventually, to find a cure.

    Experts are trying to find out why the faulty gene in Huntington’s disease causes some types of brain cell to die. This may help in finding treatments such as medicines to correct this. Trials are going on to test medicines including some that may control symptoms and some that may be able to stop the disease getting worse. People with Huntington’s disease are taking part in these trials and many say that this makes them feel more hopeful.

    Scientists are also finding out if stem cells (the most basic form of cells from which others develop) could be used in treating Huntington’s. They hope that one day they will be able to grow cells that can be transplanted into the brain of people with Huntington's disease to improve their symptoms. Research is still in the very early stages.

    Other research includes how special scanners called positron emission tomography (PET) scanners and functional magnetic resonance imaging (fMRI) scanners can help. These can be used to study chemical abnormalities within the brain of a person with Huntington’s disease.

  • FAQs FAQs

    I have the faulty gene that causes Huntington's disease. Is there any way to prevent the condition developing?

    Answer

    No, if you have inherited the faulty gene, it’s very likely that you’ll develop the disease at some point in your life.

    Explanation

    Genes are bits of code inside each of your cells that tell them what to do. Each gene acts as an instruction for your cells on how to make proteins. These are the building blocks of body tissues, such as your muscle, skin and nerves. Different genes are active or inactive (turned off) in different cells as your body develops.

    In Huntington's disease, an abnormal gene leads to a harmful version of a protein called Huntingtin being produced. This protein contains too many repeats of an amino acid called glutamine. Amino acids are the building blocks of proteins and genes control which ones are joined together and in what order. The high number of glutamines in the Huntingtin protein prevents it being broken down properly and bits build up in the cells in your brain. This damages your brain cells and leads to the symptoms of the disease. But researchers don’t yet know exactly how the build up of the Huntingtin protein in your brain cells causes the problems that you may have.

    A fault in a gene is called a mutation. In Huntington’s disease, the mutation can vary in length which affects the number of repeats of glutamine there are in the abnormal protein. The length of the mutation has an effect on how old you are when you develop the disease and how severe it is. The shorter the mutation, the more likely it is that you won't develop the disease until later in your life and your symptoms may be milder. The size of the mutation can change between generations.

    Currently, there’s no way to turn off the faulty gene and stop your cells making the harmful version of the Huntingtin protein.

    What's involved in genetic testing for Huntington’s disease?

    Answer

    There’s a blood test which can find out if you have the abnormal Huntington’s disease gene. You can choose to have this test if you’re over 18 and are at risk.

    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.

    If you're over 18 and have decided that you do want to find out, speak to your GP. He or she can arrange an appointment at a genetics clinic or Huntington’s disease clinic in your region. The decision to be tested should be voluntary – don't feel under pressure from anyone else.

    At the clinic, you’ll have about three sessions of counselling before testing. This will give you the chance to talk everything through. For example, you might discuss how you would cope with any bad news, and who you would pass on news of the results to. You’ll also have the chance to discuss how the implications of a positive result in your blood test could affect other members of your family. For example, your parents will know that one of them is at risk of developing Huntington’s disease. It may be that they would prefer not to find out.

    If you have already had a child, you’ll know that he or she has a one in two chance of having inherited the faulty gene from you. Your brothers or sisters may be affected too.

    This type of testing can be very difficult emotionally. The results may offer great relief if they are negative. If positive, they may change your views on your future, for example, having children or more children.

    If you decide to go ahead with the test, you’ll have two samples of blood taken from a vein in your arm. Your blood will then be tested in a laboratory to look for the faulty gene. It will take four to six weeks for the results to come back. If the results come back positive, you’ll be offered further counselling and support.

    I’m pregnant and have a family history of Huntington’s disease. What tests are available for my unborn baby?

    Answer

    You may be offered a prenatal genetic test for Huntington’s disease. This usually needs to be carried out between week 11 and 13 of your pregnancy.

    Explanation

    The test involves taking cells from inside your womb, which means there are some risks to you and your unborn baby, such as premature labour. Doctors will examine the cells to see if your unborn child has the faulty gene that causes Huntington’s disease.

    You’ll be offered counselling before having the test. It’s a very important step because you’ll need to agree to terminating the pregnancy if it’s a positive result. The reason for this is that if you have the baby, he or she could grow up knowing the results of a life-changing test that they didn’t consent to.

    These are very difficult decisions to make so it’s really important that you talk through the options and potential outcomes and how you might cope with them.

    If you’re pregnant or thinking of trying to get pregnant and have a family history of Huntington’s disease, speak to your GP. He or she may be able to refer you to a Huntington’s disease multidisciplinary clinic to find out more about the condition, the tests that are available and what they involve.

    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?

    Answer

    This situation is rare and as such it’s difficult to say exactly what your risk is. The best thing to do is to discuss your individual circumstances with a genetic counsellor. Below we’ve explained how this situation can happen.

    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 isn’t 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, a parent who has not developed the disease can have a child who does develop the disease. This helps to explain why Huntington's disease can very occasionally appear in a family where nobody is known to have 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. In this situation, you may want to think about having genetic counselling and testing. Speak to your GP for advice.

    How long do people with Huntington's disease live for?

    Answer

    People with Huntington's disease usually live for 10 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 symptoms are likely to start. Generally, the survival time from the first symptoms is around 10 to 20 years but some people have lived 30 or 40 years.

    Juvenile Huntington’s disease tends to have a more rapid course. This is a type of Huntington's disease that develops before you're 20 and is usually more severe. Young people who are affected live for around 15 years from the time their symptoms begin. Most people with juvenile Huntington’s disease inherit it from their dad.

    As Huntington’s disease progresses, poor co-ordination, falls, malnutrition and exhaustion become increasingly serious. Death is usually caused by an accompanying illness such as pneumonia.

    How can I tell my child that I have the gene for Huntington's disease?

    Answer

    It can be very difficult for you to explain to your child about Huntington's disease. You’ll be talking about your own health but you’re also saying that there’s a risk for him or her.

    Explanation

    There’s never an easy time to tell your child that you have the gene for Huntington's disease and that he or she has a chance of carrying it. But it's important not to avoid the subject. Your child will learn about it at some point and may be angry that you didn't talk to him or her sooner. Research has shown that adults who weren't told as children often feel angry and resentful that the information was kept from them.

    Being honest and open with your child will help him or her to make decisions about their future plans, as well as coming to terms with and coping with your illness.

    How you go about telling your child depends on his or her age, and whether or not you’ve 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 feel well prepared.

    If you feel you want some support to help you when talking to your child, contact the Huntington's Disease Association (see our Resources section). It has a team of regional care advisers and genetic counsellors who can give useful advice and also ongoing support to you and your family. It can also put you in touch with other families dealing with a similar situation.

  • Resources Resources

    Further information

    Sources

    • Kumar P, Clark M. Clinical medicine. 8th ed. Edinburgh: Saunders; 2012
    • Huntington’s disease. BMJ Best practice. www.bestpractice.bmj.com, published 4 July 2014
    • Huntington disease. Medscape. www.emedicine.medscape.com, published 14 May 2013
    • Huntington’s disease. PatientPlus. www.patient.co.uk/patientplus.asp, reviewed 28 May 2013
    • Chorionic Villus Sampling. PatientPlus. www.patient.co.uk/patientplus.asp, reviewed 19 December 2013
    • Map of Medicine. Huntington's disease. International View. London: Map of Medicine; 2011 (Issue1)
    • What is Juvenile Huntington’s disease? Huntington’s Disease Association. www.hda.org.uk, accessed 9 October 2014
    • General Information about HD and the HDA. Huntington’s Disease Association, 2012. www.hda.org.uk
    • Predictive testing for Huntington’s disease. Huntington’s Disease Association, 2012. www.hda.org.uk
    • Occupational therapy in Huntington’s disease. Huntington’s Disease Association, 2009. www.hda.org.uk
    • Talking to children about HD. Huntington’s Disease Association, 2012. www.hda.org.uk
    • Huntington's disease: hope through research. National Institute of Neurological Disorders and Stroke. www.ninds.nih.gov, published 16 April 2014
    • A physician’s guide to the management of Huntington’s disease. 3rd ed. Huntington’s Disease Society of America, 2011. www.hdsa.org
    • Evans S, Douglas I, Rawlins M, et al. Prevalence of adult Huntington’s disease in the UK based on diagnoses recorded in general practice records. J Neurol Neurosurg Psychiatry 2013; 84:1156–60. doi:10.1136/jnnp-2012-304636
    • Genetics home reference – handbook. www.ghr.nlm.nih.gov, published 9 October 2014
    • Pre-implantation genetic diagnosis (PGD). Human Fertilisation and Embryology Authority. www.hfea.gov.uk, published 1 April 2014
    • Huntington’s disease: how could stem cells help? EuroStemCell. www.eurostemcell.org, published 10 June 2013
    • Mestre T, Ferreira J, Coelho MM, et al. Therapeutic interventions for symptomatic treatment in Huntington's disease. Cochrane Database of Systematic Reviews 2009, Issue 3. doi:10.1002/14651858.CD006456.pub2
    • MacLeod R, Tibben A, Frontali M, et al. Recommendations for the predictive genetic test in Huntington’s disease. Clin Genet 2012; 83(3):221–31. doi:0.1111/j.1399-0004.2012.01900.x
    • Novak MJU, Tabrizi SJ. Huntington’s disease clinical review. BMJ 2010; 340:c3109. doi:10.1136/bmj.c3109
    • Local branches and support groups. Huntington’s Disease Association. www.hda.org.uk, accessed 17 October 2014
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