Huntington’s disease – what are the signs, symptoms and treatments of Huntington’s disease?

Huntington's disease

Huntington’s disease

Huntington’s disease is an inherited condition that damages certain nerve cells in the brain.

This brain damage gets progressively worse over time and can affect movement, cognition (perception, awareness, thinking, judgement) and behaviour.

Early features can include personality changes, mood swings, fidgety movements, irritability and altered behaviour, although these are often overlooked and attributed to something else.

Read more about the features of Huntington’s disease.

Huntington’s disease was originally called Huntington’s chorea (“chorea” is the Greek word for dancing). This is because the involuntary movements associated with the condition can look like jerky dancing. However, “disease” is now the preferred term, because the condition involves a lot more than just abnormal movements.

Huntington's disease is caused by an inherited faulty gene. However, in around 3% of cases, there's no family history of the condition, normally because the parents died at a young age.

Read more about the cause of Huntington's disease.

Diagnosing Huntington's disease

If you have symptoms of Huntington's disease, your GP will refer you to a specialist clinician (usually a neurologist) if they feel your symptoms need further investigation.

The specialist will ask about your symptoms to assess how likely it is that you have Huntington's disease and to rule out similar conditions.

They may also test a number of physical functions, such as your eye movements, balance, control, movement and walking. Your speech and cognition may also be tested. All of these can be affected by Huntington's disease.

Genetic testing can be used to confirm the diagnosis.

Read more about how Huntington's disease is diagnosed.

Treating Huntington's disease

There's no cure for Huntington's disease and its progress can't be reversed or slowed down.

As the condition progresses, it may put a strain on family and relationships. Treatments for Huntington's disease aim to improve any mood disturbance; this is done to maintain skills used in daily living that can deteriorate over time.

Medication can help manage some of the symptoms, such as irritability or excessive movement. Therapies such as speech and language therapy and occupational therapy can help with communication and day-to-day living.

Support is also available for the family of a person with Huntington's disease. This includes, for example, testing family members who don't have any of the condition's features (manifest) to see whether they carry the gene, or help with choosing a suitable care home in advanced cases.

Read more about how Huntington's disease is treated and living with Huntington's disease.

Huntington's disease usually progresses and gets worse over a 10-25 year period from when it first appears, before the person eventually dies from it. During the condition's later stages, the person will be totally dependent and need full nursing care.

Death is usually from a secondary cause, such as heart failurepneumonia or another infection.

Who's affected by Huntington's disease?

Both men and women with a family history of Huntington's disease can inherit the condition. Symptoms usually start to appear during adulthood.

Juvenile (children's) Huntington's disease develops before the age of 20. Only 5-10% of people with Huntington's disease develop it at a very young age, and the pattern of features may be different.

It was previously thought that 4-6 people in a population of 100,000 were affected by Huntington's disease. However, UK research carried out in 2012 found the actual figure for those affected by the condition to be about 12 people per 100,000.

It's thought that the number of people who have the Huntington's gene and are not yet affected is about twice that of those who have symptoms.

Current research

Research is underway to find disease-modifying medication and new treatments for the features of Huntington's disease.

Exciting progress has been made in identifying potential ways of slowing down or halting the condition by "switching off" the faulty gene that causes Huntington's disease.

See our page on clinical trials for Huntington's disease for details of the clinical trials that are currently running. You can find out more by visiting the European Huntington's Disease Network.

Information about you

If you have Huntington's disease, your clinical team will pass information about you on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register.

Do you know your family’s health history? How the Personal Genome Service might help

Dr. Ellie Cannon

Dr. Ellie Cannon

Dr. Ellie Cannon believes in the importance of a strong partnership between GPs and their patients to ensure better health outcomes, but the key to success is a patient who is both engaged and informed about his/her own health. New research released today looks at how proactive we are at looking after our own health and the benefits of knowing our family’s health history.


Less than half of those surveyed believe that they should be responsible for knowing about their health risks – including those that ‘run in their family’.

That’s despite the fact that nearly two thirds believe that if they were more informed about their health risks, they would adapt their lifestyle accordingly.

Dr Ellie Cannon strongly believes that empowered and proactive patients are part of the solution for the future of the NHS; so why aren’t more of us doing it?

Nearly two thirds of adults would adapt their lifestyle if they were more informed about their health risks, but only half of us believe it is our responsibility to know what those health risks are.

That’s according to new research which saw four out of five say they believe being more knowledgeable about their own health risks would benefit the NHS.

Much of our health is influenced or informed by genetics or family history, and doctors are much better equipped to make swift diagnoses, treatment decisions or health recommendations if these things are accurately understood and communicated.

Some interesting insight into age were also revealed in the survey, with over 80% of those aged 55 and above believing that their health is more important than happiness, education and wealth, whereas only 44% of 16-24 year olds prioritised health.

23andMe’s Personal Genome Service helps people across the UK unlock their genetic information and provides insights into health, genetic risk factors, traits and ancestry. By doing a test you could find out a wealth of information that can help you to become more informed and proactive about your own health and wellbeing, and that of your family.

Patient Talk interviewed Dr Cannon to find out more.

Patient Talk – So what is a Genome?

Dr. Ellie Cannon – The Genome is your entire genetic information, consisting of DNA which can tell you about your health and ancestry.

Patient Talk – And why are they important to our health?

Dr. Ellie Cannon – Well, we obviously talk a lot about lifestyle and risk factors in terms of our health but a large part of our health information is actually carried in our genetic information and it’s really important in both treatment of disease and prevention of disease to understand our own personal genetic make-up, our family history and our risk factors from our lifestyle.

Patient Talk – Ok how has genetics changed health?

Dr. Ellie Cannon – Well in the last sort of 10 years there’s been a huge change in terms of the way we treat conditions because of knowing so much more about genetics. That would apply to the way we treat cancer for example, where now genetics is very important. We have also seen in the last few years the advent of personal genetic services, where people can actually take ownership of some of their own genetic information. 23andMe’s Personal Genome Service helps people across the UK unlock their genetic information and provides insights into health, genetic risk factors, traits and ancestry. By doing a test you could find out a wealth of information that can help you to become more informed and proactive about your own health and wellbeing, and that of your family.

Patient Talk – Ok and would this vary from country to country?

Dr. Ellie Cannon – Well it would do in terms of access to health information and also access to personal genetic services. 23andMe kits are available to purchase in the US and Canada as well as in the following parts of Europe – UK, Denmark, Finland, Ireland, Sweden and The Netherlands.

Patient Talk – And how would this work in practice?

Dr. Ellie Cannon –  Well in practice understanding your genetic information as well as your lifestyle information can prompt you to have a more informed discussion with either your family or with your doctor about your own risk factors. A direct-to-consumer genetic test doesn’t actually diagnose disease, it gives you an idea of something you may pass on to your children or it gives you an idea about risk factors or even how you may respond to medications.

Patient Talk – Ok and how are these medical conditions helped or rather what medical conditions are helped?

Dr. Ellie Cannon – Well there are many diseases that have a genetic element as well as a lifestyle element. Over the past few years, we have seen a lot of press coverage about breast cancer having a genetic component, a BRCA gene, associated to an increased risk for breast cancer which is something we can look at preventing. We know that your tendency to develop dementia and kidney  disease are within your genes as well as in your lifestyle and one of the other things that’s important to know is that 23andMe can reveal if you carry a recessive genetic variant for inherited conditions such as cystic fibrosis that can be passed onto your children.

Patient Talk – Ok and how do we go about finding out about our family health issues?

Dr. Ellie Cannon – Direct-to-consumer genetic tests are available in the UK. They are dedicated to helping people access, understand and benefit from the human genome. It enables individuals in the UK to gain deeper insights into their health and ancestry, along with traits that make them unique. That is a very specific way of looking at specific genetic details that you carry. Having a simple conversation with your family is also a great way to know more about your family health history and it’s very important to do that – it’s certainly something that UK adults need to do more.

Patient Talk – And finally where can we go for more information?

Dr. Ellie Cannon – You can go and find out more information at www.23andme.co.uk

Invitation to a free webinar on relationships, love and family dynamics when affected by chronic illness like Multiple Sclerosis on February 11, 2016 4PM EST/ 21:00 UK

MS and relationships

MS and relationships

On February 11  at 4PM EST GeneFo will be holding a free webinar on relationships, love and family dynamics when affected by a chronic condition with Dr.Opie-Moran a clinical psychologist who specializes in supporting patients with chronic conditions, and Sheryl Skultesky MS advocate extraordinaire!

Dr. Moran will discuss how to sustain thriving relationships and families and Sheryl will tell us about raising 2 teenagers while being diagnosed with Multiple Sclerosis. Registration link  www.genefo.com/webinarms


Registering for the webinar unlocks many other great features for MS patients and caregivers, delivered on genefo.com :

GeneFo, founded by Stanford geneticist Dr.Wilnai, is a patient crowdsourcing platform that innovates by going beyond matching patients that have the same condition, and actually classifies & matches them according to their specific Multiple Sclerosis type.

Patients and caregivers can use GeneFo to

  • Get patient peer advice and support
  • Track their condition via personal health management reports
  • View and compare real-time stats on what works for others with a similar medical profile
  • Register to get matched to clinical trials according to location and profile
  • Consult with an in-house medical team
  • See unbiased reviews of medical & alternative treatments and providers

And the best part?  No more sifting through endless posts and web pages – All of these features are perfectly organized and delivered in one screen!

Creating a Special Gift with a Family Tree – a guest post from Suzie Kolber


This is a bit of an odd choice of guest post to be selected for inclusion in a healthcare blog but

Suzie Kolber

Suzie Kolber

please bear with me.

Over the last few years it has become increasingly obvious that many conditions , such as autism or multiple sclerosis, have a genetic or inherited element to them. So if one is going to take part in genetic counseling , and many of us will it is good to have at least some idea of our family tree. So Suzie Kolber very kindly offered to provide us with an outline of how to set up a family tree.

Kolber writes “Researching your family history can teach you a lot about your ancestry. It also makes a wonderful gift once you have completed your research. Give it as an anniversary present, birthday gift or for other special occasions. If this is your plan, you need to begin early, especially if you plan to go in-depth with your research.

Set a Goal

You have numerous options for how you want to create your family tree. You may want to select a template that covers three or four generations related to the recipient of the gift. This option will have special meaning since the person already knows the people listed.

You may prefer to be more historic in your approach and select a ten- or eleven-generation family tree template. This option makes for a wonderful gift that will appeal to many people. Just be prepared that the research could take you several months so play far ahead if this is the approach you choose.



Another option is to take smaller templates and create multiple family trees. For instance, you may decide to cover the ancestry of all of the person’s grandparents. You would create four separate templates that could be placed together in a large frame. You would probably select three- or four-generation templates to ensure that everything fits in the space and isn’t too overwhelming.

Choose a Template

Once you know what kind of research you will need to do and how much information you want to present, you need to decide on the format. Numerous options are available to suit many tastes. A landscape family tree template is a classic choice with ovals where you can put either information or photos.
Bowties and wide or tall trees are other options that are ideal for three- or four-generations. They often allow you to include photos or more information other than just the names to personalize your design.

For more in-depth research, you can also use the bowtie design. You may also want to try a circular pattern to fit more names into the space. A chart format is another option when you have a lot of names to include. It is easy to read and keeps everything organized. To be more decorative, choose a template that includes a border. You can even find ones that allow you to input the family crest.
Give the family tree as a wedding or anniversary present and include both families of the couple on your template. A bowtie design is the ideal choice for this gift and is easy to read.

When giving a gift of a family tree to someone, you want it to be visually pleasant to look at and easy to follow. You may want to include photos or more data to create a gift that is interesting and will have meaning to the recipient. This is both a unique and heartfelt gift that you put a lot of time and effort into. Choose the right design for your gift that fits the information you collected and puts it into a lovely display. ”