Huntington disease

This is part of Rare diseases.

Diagnosis: Huntington disease

Synonyms: Huntington chorea, Juvenile Huntington disease


Date of publication: 2014-10-16
Version: 3.4



The disease

Huntington disease is an inherited, progressive neurological and neuropsychiatric disease caused by impaired nerve cell function in the brain. It causes a combination of neurological, motor, cognitive and psychiatric symptoms. The onset of the disease usually occurs at between 30 and 50 years of age.

The syndrome is named after the American physician George Huntington, who first described the syndrome in 1872. As early as the 16th century the disease was classified as a “dancing disease” (the Greek word for dance is choreia) because of the rapid uncontrolled movements it often causes and it was long known as Huntington’s chorea or Chorea Huntington. As uncontrolled movements are only one of several symptoms, the condition is now known as Huntington disease.

There is also a rare juvenile form of the disease, presenting before the age of 20. The juvenile form represents between three and ten per cent of all cases of Huntington disease.


Huntington disease is found in between 6 and 12 people per 100,000 population. It is estimated that there are approximately 1,000 people with the disease in Sweden. It is found equally in men and women.


Huntington disease is caused by a mutation in the HTT gene. It is located on the short arm of chromosome 4 (4p16.3) and it produces (codes for) huntingtin, a protein whose normal function is still not fully understood. A specific DNA sequence (CAG) in the gene is normally repeated 20 times (as measured in DNA taken from blood cells). The CAG sequence codes in its turn for the aminoacid glutamine. In a family, the number of CAG repeats varies very little from one generation to the next.

In Huntington disease the number of CAG repeats is increased and so this area of the gene becomes unstable, meaning that when the gene is inherited, additional copies may be added. The more copies, the more severe the disease.

When the number of CAG repeats reaches 35 or more, there is a risk that a person will develop Huntington disease, usually late in life. When the number of repeats is 40 or more the individual will definitely develop the disease. A very large number of CAG repeat sequences (60 or more) usually indicates that the disease will present before the age of 20.

One possible explanation for the development of symptoms is that glutamine accumulates in cells where the number of CAG repeats has reached a sufficiently high level. This build-up of glutamine causes huntingtin to form accumulations, damaging the cell or interfering with its functions. This occurs mainly in nerve cells which are located in important connection hubs in the brain. These affected areas include the cerebral cortex, striatium and the hypothalamus, the hormone centre of the brain.


The inheritance pattern of Huntington disease is autosomal dominant. This means that one of the parents has the disease, and so has one normal gene and one mutated gene. Sons and daughters of this parent have a 50 per cent risk of inheriting the disease. Children who do not inherit the mutated gene do not have the disease and do not pass it down. In Huntington disease it is common that the partner who passes on the defective gene to the child has not yet become ill and is unaware that he/she is a carrier of the mutation.

In Huntington disease it is common that a child who inherits the defective gene which causes the condition develops a more severe form of the disease than the parent (the anticipation effect). This is because the abnormal, repeated, section of the gene is further extended when the gametes (the reproductive cells) form.

Figure: Autosomal dominant inheritance


The symptoms of Huntington disease vary among individuals, as does the age when the disease first presents. However, onset occurs most commonly between the ages of 30 and 50. The condition is characterized by a number of symptoms, all of which are caused by changes in the brain. Motor function, including the control of voluntary and involuntary movements, is affected. Changes to the brain also affect cognition, causing difficulties in understanding or processing information. Behaviour and personality are also affected.

The rare juvenile form of the disease presents early, and may even affect children of preschool age. This condition progresses more rapidly than the adult form, and symptoms can include epilepsy. Early signs of the disease often include a decline in school performance combined with muscle rigidity, tremors and strong spasms (myoclonus). In some cases, coordination problems and unusual patterns of movement are the predominant symptoms.

The average life expectancy after onset is between 20 and 25 years, but there are wide variations. In the juvenile form, life expectancy is shorter. Respiratory complications such as pneumonia or choking, when food enters the respiratory airways, are a common cause of death.

Neurological symptoms

Initially, it is usual that neurological symptoms are barely noticeable but they may present as small involuntary movements in the fingers, toes and tongue. Facial movements may resemble grimaces. Eye motor function is affected early and eye movements become jerky and difficult to control. The face becomes less expressive as control of facial muscles deteriorates. Later, involuntary swaying movements of arms and legs may occur, increasing in times of stress and worry. The involuntary movements make it difficult for the person with the disease to decide how much muscle exertion is necessary for certain movements, and to judge distances and directions. This means that it is easy for the person with the disease to trip, knock into furniture and lose things as well as experiencing a deterioration of fine motor skills. The trunk is also affected, causing a swaying movement when standing or walking. Balance problems increase and the gait becomes wide-legged. As the disease progresses the risk of tripping and taking false steps increases. It is easy to fall, especially on uneven surfaces, on stairs or when turning. Everything takes more time and it may be difficult to initiate movements. At a late stage of the disease involuntary movements often diminish and are replaced by increasing muscle stiffness, which can give rise to permanent deformities.

Changes to the brain also affect the voice, speech, breathing and the ability to swallow. Articulation may be impaired by involuntary movements of the jaw, tongue and lips. Irregular breathing can interrupt speech. As the disease progresses speech becomes increasingly indistinct and more difficult to understand. As swallowing deteriorates it is easier for food and drink to stick in the throat. Irregular breathing is associated with a risk of swallowing air, and of food getting stuck in the airways.

Cognitive symptoms

Damage to the nerve cells of the brain leads to a gradual deterioration, or loss of, cognitive function. This is mainly the result of irregularities in connections between the deeper structures of the brain, the striatum (part of the forebrain), and the frontal lobe. This affects the abilities to plan and organize, to be flexible and adjust to new situations. It also becomes difficult to take the initiative and do a number of things simultaneously. Initially, symptoms include difficulties coping with and organizing everyday life and it can be difficult to understand and remember information. Judgement and self-awareness deteriorate as does the ability to express oneself in words. The slowing down of thought processes means it takes a long time to answer a question. Eventually the sense of time deteriorates, as does the ability to learn. Late in the progression of the disease a form of dementia may develop. Although the cognitive functions are severely impaired it is important to remember that people with the disease continue to understand speech and are aware of themselves and their surroundings even at late stages of the disease.

Psychiatric symptoms

Damage to the brain cells affects personality and behaviour. People with the condition become more impressionable, while at the same time it becomes more difficult for them to take a general view of things, and to plan for and understand the consequences of actions. Self-control may deteriorate resulting in an affective imbalance. Increasing cognitive difficulties can create frustration and irritation and contribute to a worsening self-image. Sometimes irritability turns into aggression. Passivity and apathy are common, as are anxiety and worry. Depression and suicidal thoughts may occur, as may compulsive behaviour. Serious psychiatric symptoms, such as psychosis, may arise but are not common. The most common symptom of psychosis is pathological suspicion.

Other symptoms and signs

Changes to normal daily rhythm and sleeping problems can occur early in the disease. Later it is common that normal biological temporal rhythms are reversed.

Difficulties in swallowing, combined with higher metabolic rates can lead to weight loss.

Phases of the disease

The course of the disease can be roughly divided into five clinical phases, corresponding to the progression of the disease and the degree of disability associated with it. These phases overlap. There is great variation between people at the same stage of the disease, as well as the speed at which the disease progresses through the different phases.

  • early stage
  • early complications stage
  • intermediate complications stage
  • advanced complications stage
  • care stage

There is also a very early phase, the pre-clinical stage, before any of the characteristic symptoms present. This is associated with reduced impulse control, a tendency towards aggressive behaviour, depression, anxiety, irritability, sleep problems and cognitive changes.

In the early phase (usually lasting approximately eight years from the time the diagnosis is made) very minor changes in the ability to coordinate movements, and a few involuntary movements, occur. Cognitive changes can cause the individual to become irritable or to experience difficulty solving problems, organizing everyday routines, dealing with new situations and making decisions. The person may experience depression, accompanied by anxiety and thoughts of suicide, as well as restlessness and apathy. Milder forms of compulsive behaviour may develop. More serious psychiatric symptoms such as psychosis occur, but are unusual.

The early complications phase (usually starting three years after a confirmed diagnosis and lasting approximately 13 years) is characterised by increasingly noticeable involuntary twitching and shaking of the head, neck, arms and legs. The movements affect balance and make the gait unsteady. The voice can be strained and weak and articulation can be affected by involuntary movements of the jaw, tongue and lips. All cognitive abilities deteriorate so the individual finds it more difficult to take the initiative, to plan, solve problems, be flexible, and to learn and remember. It becomes more difficult for the patient to understand complicated information and to express him/herself. The individual seldom initiates conversation and takes longer to reply. Judgement deteriorates. Anxiety, depression and thoughts of suicide sometimes occur, while restlessness and apathy increase. Increased irritability and worsening self-control can lead to conflicts. Compulsive behaviour may develop but is usually possible to divert. More serious psychiatric symptoms such as pathological suspicion can occur. At this stage it can become difficult for the individual to work in demanding occupations.

In the intermediate complications phase (starting five years after diagnosis and lasting approximately 16 years) involuntary movements become more pronounced and affect general behaviour. The gait is unsteady and the risk of falling increases. Sometimes stiffness in muscles and joints starts to present. Difficulties swallowing, sometimes in combination with raised metabolic rates, lead to loss of weight. Involuntary movements, and the fact that words are spoken both when inhaling and exhaling, cause speech to become slurred and difficult to understand. The individual’s vocabulary and ability to think and reason all gradually deteriorate. Memory and the ability to learn, especially practical skills, are impaired. Memories of facts and events deteriorate and it is more difficult for the individual to remember to do things. However, memories of people and surroundings are not affected. Short-term memory, for example the ability to remember a phone number, is impaired. Judgement deteriorates further. As in earlier phases, depression and anxiety are common. Apathy and restlessness increase. Compulsive behaviour becomes more common. Increased irritability may lead to aggressive behaviour which may sometimes be interpreted as threatening.

In the advanced phase stage (usually from nine years after diagnosis and lasting approximately 21 years) involuntary movements are very pronounced in some individuals, while in other individuals these movements are replaced by stiffness in muscles and joints. It is very difficult to walk. It can also be difficult to control the bladder and bowels. The ability to speak is further impaired because of increasing cognitive problems and more frequent involuntary movements. Problems associated with swallowing are common. Memory and learning ability deteriorate further, and perception of time and space can also be affected. Apathy becomes more pronounced and the individual takes the initiative more seldom. Anxiety attacks occur more frequently and are more pronounced, as are periods of aggressive behaviour. As in the other stages, serious psychiatric symptoms may occur. Weight loss is common as there are major difficulties in eating.

The care phase (from approximately eleven years after diagnosis) is associated with such severe disability that it is essential that the individual receives 24-hour care. Involuntary movements occur less often, but are often more pronounced. In many cases, these movements have been replaced by marked stiffness of the muscles. The ability to communicate is more limited, partly because of cognitive difficulties and partly because of difficulties initiating speech or answering. Cognitive disabilities can develop into a form of dementia. Depression and anxiety also occur at this stage of the disease, sometimes accompanied by serious psychiatric symptoms accompanied by restlessness and aggression. Apathy may be very marked. It is important that people in contact with the affected person know that he/she is still aware of his/her own situation and surroundings and can understand what is said, despite severe disabilities.

It is not the disease itself which is fatal, but the severe complications associated with it. Problems in swallowing can lead to pneumonia and choking.


The diagnosis is established on the basis of a neurological examination indicating characteristic symptoms of the disease. It is confirmed by a DNA analysis.

Huntington disease is usually diagnosed in adulthood, often several years after the onset of symptoms.

At the time of diagnosis it is important that the family is offered genetic counselling. Carrier and prenatal diagnosis, as well as pre-implantation genetic diagnosis (PGD) in association with IVF (in vitro fertilization), are available to families where the mutation is known.

If an individual has a parent with Huntington disease it is possible to be tested to find out if one has the relevant genetic mutation or not (pre-symptomatic test). The test does not predict at what age a person will start to show signs of the disease or how it will progress. The most common motivation for taking the test is that the individual finds it impossible to live any longer with the uncertainty. Another reason is to find out for the sake of one’s children. Family planning can also be a reason for testing.

Children are tested only if they have symptoms that cause the diagnosis to be suspected.

As testing inevitably causes distress for the person being tested and for family members, most clinical genetics units use established programmes or recommended guidelines for test procedures. The process includes both a consultation with a doctor where the family’s medical history is gone through, and several meetings with a genetic counsellor. The procedure is not rushed and it is possible to stop it at any stage if desired. The result is given by a doctor and followed up at a meeting with a genetic counsellor even if the result is negative (i.e. the individual is not a carrier of the mutated gene.) During this time, the individual undergoing testing and family members should be offered psychological support geared to their needs. Results are usually followed up over an extended period.

In Sweden, pre-symptomatic testing for Huntington disease has been available since 1993. National and international experience of testing suggests that most people can handle the knowledge of their carrier status. One year after the testing procedure many individuals feel as good as, or even slightly better than, they did before the test. During this year, it is common for individuals to experience a period of crisis as they adapt to the new situation. Some people make positive changes and attempt to make the most of life and personal relationships as long as they remain healthy. However, in a few cases a negative test result has triggered severe, difficult-to-treat, psychological reactions and a handful of individuals have attempted suicide.


Treatment for Huntington disease relieves symptoms, counteracts and compensates for disabilities and provides support and care. Much research is under way into developing medication which can delay the onset of the disease and slow its progression.

A person with Huntington disease who receives the diagnosis needs information, guidance, support and help from many categories of medical professionals at different stages of the disease. The same applies to the family and others close to the individual affected. The team for diagnosis and treatment at university hospitals should include a clinical geneticist, neurologist, psychiatrist, psychologist, social worker, occupational therapist, dietician, physiotherapist, speech therapist, dentist and dental hygienist. Regular contact between the person affected, the family and the team can make it easier to follow the progression of the disease and initiate support measures at the appropriate time. To optimize conditions for finding flexible, tailored solutions to individual problems, every person with the condition should have a coordinator or contact person with knowledge of Huntington disease. Another goal of the team is to support the local care team. In regions which do not have a specialist team, the attending physician can refer the patient to other appropriate medical professionals.

In the juvenile form of the disease it is important that the family be offered contact with a habilitation team as early as possible. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development. Support and treatment are offered within the medical, educational, psychological, social and technical fields. Help includes assessment, treatment, the provision of aids, information on the specific disability, and counselling. It also includes information on support offered by the public services, and advice on adapting accommodation and other environments. Treatment and support are planned on the basis of individual symptoms and requirements and may change over time. They are planned in collaboration with the family and other people close to the person with the disease. Parents and siblings may also receive support.


In the early stage of the disease depression, anxiety and restlessness can often be treated with serotonin-enhancing medication (SSRI drugs). This treatment can also counteract weight loss, and improve the quality of sleep. Usually serotonin-enhancing medication also has a positive effect on changes in personality which result in irritability and aggression. However, apathy and lack of initiative are best treated with activation and stimulation, as these types of problems do not respond well to medication.

Even in small doses, anti-psychotic drugs (neuroleptics) reduce involuntary movements. These medications act by blocking dopamine receptors on brain neurons. Neuroleptic drugs also decrease irritability, aggression, and psychotic symptoms. Low doses help relieve anxiety, improve sleep and have a positive effect on depression. However, if the dosage is too high, the sedative effect of the medication may have a negative impact on the individual’s ability to take initiatives. The medication tetrabenazine reduces involuntary moments by preventing the release of dopamine, a signalling factor. As it can have significant side effects like depression, treatment must be carefully monitored.

Treatment for psychiatric conditions associated with Huntington disease is the same as for individuals who do not have neurological diagnosis. Symptom relief may be very beneficial, despite the fact that the progression of the disease cannot be halted.

Family and others

Huntington disease has major consequences for the family and others close to the person with the disease. The situation affects not only the person who has the disease, but also those close to him or her. Knowledge of the disease, psychological support, respite care and contact with others in a similar situation are very important. It is also important to be sensitive to the situation in which children find themselves. The ability of parents with Huntington disease to empathise with and understand their children’s needs can diminish early in the progression of the disease, which means that children need support and information. Other adults close to the child may take a supportive role but sometimes contact with a professional, such as a family therapist or psychologist, is necessary.

Service and care

The early stages of the disease are characterised by cognitive and behavioural changes. Later, motor symptoms present and the need for support increases. Good treatment requires the collaboration of a psychiatrist and neurologist. Neuropsychological and neuropsychiatric assessments of the individual’s cognitive abilities should be carried out on a regular basis. Among other benefits, results provide a basis for memory training.

Psychological and social care are very important during the progression of the disease, both for the person with the disease and for those close to him or her. Counselling, crisis management and careful planning at the appropriate time all have a part to play. It may be necessary to appoint a legal representative or administrator to manage financial affairs when the person with the disease can no longer do so. Early contact should be established with the municipality assistance assessor or LSS administrator (LSS = the Swedish Act Concerning Support and Service for Persons with Certain Functional Impairments) for planning home help services, respite care, personal assistance and special accommodation. Adult day care is a good way of providing stimulating activities for the affected individual and minimising some negative effects of the disease, as well as providing relief for the family.

The disease leads to a deterioration in communicative abilities as voice, speech and language are affected. At an early stage of the disease, information and advice from a speech therapist, sometimes in combination with speech and voice training, are important. In later stages different aids including “talking mats” (a communication tool using pictures) or a personal communication file are valuable. It is also important that relatives and medical professionals know that the person with the disease requires a long time to answer questions and that communication should consist of simple sentences and is best carried out in a calm environment.

Weight loss is part of the disease profile. Involuntary movements which require a lot of energy often require increased nutritional intake, at the same time that the ability to eat, drink and swallow are affected. Weight should be regularly monitored from the early stages of the disease. A dietician and speech therapist can provide advice on nutrition and suitable food choices. To make it easier to swallow, it is important that food has the right consistency. For example, a thickener can be added to drinks. It can be increasingly difficult to eat as the risk of food going down the wrong way increases. Sitting in the correct position helps, as do various aids. In the late phase of the disease, a decision should be taken by the family, in consultation with the attending physician, about whether nutrition should be provided through a gastric feeding tube (PEG, percutaneous endoscopic gastrostomy). In PEG, a surgical procedure creates a direct connection between the abdominal wall and the stomach.

Daily activities and training are very important. A physiotherapist will provide advice on suitable exercises so the individual can retain as much function as possible, and provide help when problems arise with balance and fine motor skills. Examples of suitable activities include Nordic walking (with walking poles), riding, walks, pool training and water massage. In the longer term walking aids, and eventually a wheel chair, are necessary. Breathing exercises are also very valuable. In later stages, treatment to prevent deformities in the joints is necessary. Home adaptations may be necessary, for example to reduce the risk of falls. Different strategies and aids to planning, such as a calendar or notice board, can reduce some of the problems associated with deteriorating cognitive function. It is important that planning for daily activities and training should take place in consultation with relatives, who are often familiar with the needs and interests of the person with the disease.

Preventative dental and oral care and regular contact with dental services are a prerequisite for good oral health. Costs for essential dental care may be met by the County Council after a special review. In such cases patient fees are the same as those for other healthcare services, and are capped at a certain level. From an early stage of the disease assistance with daily dental hygiene may be required from a caregiver or relative.

Other points

As the disorder affects multiple functions, including mental and motor functions, the ability to drive a car is affected. This aspect must be considered in regular medical check-ups. The physician has a duty to report any suspected impediments to driving to the Swedish Transport Agency. If it is suspected that driving ability has deteriorated, it can be evaluated by a traffic medical unit specializing in examining the driving skills of individuals with disabilities. The suitability of retaining a firearms licence should also be considered.

Practical advice

Advice and practical hints can be found at:

  • Huntingtons sjukdom - en praktisk handledning. (CD 2010) In Swedish only. This CD is produced by the Network for Huntington Disease in Sweden’s Västra Götaland region and contains practical hints and advice. It can be ordered from Mun-H-Center, tel: +46 10 414 79 80, email: mun-h-center@vgregion.se, www.mun-h-center.se.
  • The National Association for Huntington disease (www.huntington.se). Contact Suzanne Zell, email: susanne.zell@huntington.se, tel: + 46 70 950 07 02.
  • Neuro Sweden, www.neuroforbundet.se, info@neuroforbundet.se, tel: +46 8 677 70 10.

There are several places in Sweden where accommodation is specially modified to suit people with Huntingdon disease. For more information contact The National Association for Huntington disease. (See under Organizations for the disabled/patient associations etc.)

National and regional resources in Sweden

Genetic tests are performed by departments for clinical genetics at Swedish university hospitals. Guidance is provided at these departments for patients and those close to them.

Gothenburg: Department of Clinical Genetics, Sahlgrenska University Hospital/Sahlgrenska, SE-431 45 Gothenburg, Sweden. Contact psychologist Ulrika Hösterey-Ugander, tel: +46 31 343 42 06.

Linköping: Regional Department of Clinical Genetics, University Hospital, SE-581 85 Linköping, Sweden. Contact genetic counsellor Cecilia Trinks, tel: +46 10 103 44 84, email: cecilia.trinks@lio.se.

Lund: Department of Clinical Genetics, Skåne University Hospital/Lund, SE-221 85 Lund, Sweden. Contact genetic counsellor Ingela Landberg, tel: +46 46 17 35 47. Secretary tel: +46 46 17 33 62.

Stockholm: Department of Clinical Genetics, Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden. Contact the genetic counsellor, tel: +46 8 517 708 90 and +46 8 517 730 19.

Umeå: Department of Clinical Genetics, Clinical Medicine 6M, Norrland University Hospital, SE-901 85 Umeå, Sweden. Tel: +46 90 785 28 00.

Uppsala: Neurology Clinic, Uppsala University Hospital, SE-751 85 Uppsala, Sweden. Contact genetic counsellor/neuropsychologist Marie-Louise Göller, tel: +46 18 611 24 28, email: marie-louise.goller@akademiska.se.

Expertise in orofacial problems can be found at Mun-H-Center, Institute of Odontology, Medicinaregatan 12A, SE-413 90 Gothenburg, Sweden. Tel: +46 31 750 79 80, email: mun-h-center@vgregion.se, www.mun-h-center.se.

For the juvenile form of the disease, there are paediatric neurologists at the paediatric departments of Swedish university hospitals.

Resource personnel

Psychologist Ulrika Hösterey-Ugander, Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden. Tel: +46 31 343 62 91, email: ulrika.hosterey@vgregion.se.

The Huntington team, Department of Clinical Genetics, Skåne University Hospital/Lund, SE-221 85 Lund, Sweden. Tel: +46 46 17 12 82 or +46 46 17 14 68. Contact team leader Håkan Widner, email: hakan.widner@skane.se, nurse Jan Reimer, email: jan.reimer@skane.se, Associate Professor Åsa Petersén, Translational Neuroendocrine Research Unit (TNU), Lund University, tel: +46 46 222 16 86, email: asa.petersen@med.lu.se.

Section Manager Kerstin Åkerlund, Advice and Support Unit, Neurology Department, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 800 00, email: kerstin.akerlund@karolinska.se.

Senior Physician Sven Pålhagen, Neurology Department, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 800 00.

Department of Clinical Genetics, Clinical Medicine By 6M, Norrland University Hospital, SE-901 85 Umeå, Sweden. Contact Göran Bergvall, email: goran.bergvall@vll.se. Secretary, tel: +46 90 785 28 00.

The Huntington team, Neurology Department, Uppsala University Hospital, SE-751 85 Uppsala, Sweden. Tel: +46 18 611 00 00. Contact neuropsychologist/genetic counsellor Marie-Louise Göller, tel: +46 18 611 24 28, email: marie-louise.goller@akademiska.se, Senior Physician Eva-Lena Stattin, email: eva-lena.stattin@akademiska.se, Med Dr Valter Niemelä, email: valter.niemela@akademiska.se

Other experts

Associate Professor Leif Wiklund, Mälaren Hospital in Eskilstuna, SE-631 88 Eskilstuna, Sweden. Tel: +46 16 10 30 00, email: leif.wiklund@dll.se.

Juvenile form of Huntington disease

Associate Professor Niklas Darin, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00, email: niklas.darin@vgregion.se.

Courses, exchanges of experience, recreation

The National Association for Huntington disease, www.huntington.se, organizes different activities including weekend and week-long courses, and youth camps. The goal is to create opportunities for people with Huntington disease and their families to meet and to spread information on care, contact with public services and research.

The Humlegården Foundation arranges neurological rehabilitation: The Humlegården Foundation, Box 36, SE-193 21 Sigtuna, Sweden. Tel: +46 8 505 553 00, fax: +46 8 505 553 99, email: humlegarden@swipnet.se, www.humlegarden.se.

Organizations for the disabled/patient associations etc.

The National Association for Huntington disease (RHS), email: info@huntington.se, www.huntington.se. The RHS provides advice and support groups in several places in Sweden and also arranges camps and training courses.

Neuro Sweden, Box 49084, St Eriksgatan 44, SE-100 28 Stockholm, Sweden. Tel: +46 8 677 70 10, email: info@neuroforbundet.se, www.neuroforbundet.se. Neuro Sweden has groups of relatives in several places in Sweden and provides the opportunity for people to communicate with each other via their website.

Huntington Disease Youth Organization is an international organization for young people in families with Huntington disease, http://en.hdyo.org/, email: info@hdyo.org. The website provides easily-understood information on different aspects of the disease for readers of various ages, information on available support and contact with others in similar situations, email: support@hdyo.org.

Courses, exchanges of experience for personnel

The National Association for Huntington disease arranges annual national meetings for medical professionals, people with the disease and their relatives. More information can be found at www.huntington.se.

Courses are arranged by Neuro Sweden and the diagnosis group for Huntington disease, including Neurorehab Sävar (The Centre for Medical Rehabilitation, tel: +46 90 17 73 53).  

Research and development

International research into Huntington disease is extensive considering the relative rareness of the disease. There is an international periodical focusing on research into Huntington disease: The Journal of Huntington Disease, http://www.iospress.nl/journal/journal-of-huntingtons-disease/.

Every second year an international network of researchers, the World Federation of Neurology Research Group on Huntington disease, meets to report on the latest research.

In the US a network of clinics, the Huntington Study Group is collaborating in different clinical trials, www.huntington-study-group.org. There is also a private foundation, Cure HD Initiative, CHDI, whose goal is to develop new treatments to slow the progression of the disease, http://chdifoundation.org. There is another important foundation, the Hereditary Disease Foundation, which also supports research into Huntington disease, hdfoundation.org/ The latest news on international research into Huntington disease is summarized on a simple, easy-to-read site for everyone interested in the disease, http://en.hdbuzz.net/.

The European Huntington Disease Network was established in 2004 and is an extensive network for people with the disease, researchers and medical professionals, www.euro-hd.net/html/network. The aim is to work towards a cure for the disease. A meeting is arranged for all members in alternate years, where the latest news in research and clinical practice is discussed, and familial issues are raised. The network is carrying out a study, Registry, which is mapping all aspects of the disease in order to increase knowledge of its progression and to facilitate the development of effective treatment. The study includes over 10,000 people with the disease. Most Swedish university hospitals are participating in the study and can provide further information. The coordinator for Sweden is Kristina Becanovic, email: kbecanovic.ehdn@gmail.com.

Apart from the Registry study, research is also being carried out in Sweden at the universities of Gothenburg, Lund, Stockholm and Uppsala. 

Information material

Short summaries of all the database texts are available as leaflets, in Swedish only. These leaflets may be ordered or printed out. (See under “Mer hos oss” in the right hand column.)

Huntingtons sjukdom - en praktisk handledning (2010).(In Swedish only.) The CD contains extensive information for people with the diseases, their relatives and medical professionals, and is produced by the Network for Huntington disease in the Västra Götaland region. It contains documents, short films, folders and other printable material and also contains information on a pre-symptomatic test for Huntington disease. It is called, Ett svårt val. There is also a book, Att samtala med barn om Huntingtons sjukdom, by Bonnie Hennig (2009). (Swedish only.) ISBN 978-91-633-4643-9.

The CD can be ordered from Mun-H-Center, tel: +46 10 414 79 80, email: mun-h-center@vgregion.se, www.mun-h-center.se.

The following material is available from Neuro Sweden, tel: +46 8 677 70 10, email: info@neuroforbundet.se, www.neuroforbundet.se:

  • Huntingtons sjukdom – en obotlig sjukdom (2010). (Swedish only.) A documentary on DVD showing four families living with the illness, their lives and the choices they make.
  • Att leva med Huntingtons sjukdom (2010).(Swedish only.) An information booklet.
  • Huntingtons sjukdom i familjen.(Swedish only.) An 8-page booklet for children.
  • Med döden i generna (2009).(Swedish only.) A book by Anneli Östman, a member of a family with Huntington disease. ISBN 978-91-85455-77-5.

Information in English can be found at www.euro-hd.net/html/network (European Huntington Disease Network).


Vi som skulle bli gamla tillsammans – när gentekniken låter oss se in i framtiden (2011).(Swedish only.) A book by Petra Lilja Andersson describing what gene testing can mean for a family. Published by Natur & Kultur, ISBN 978-91-27-13015-9.


Burgunder JM, Guttman M, Perlman S, Goodman N, van Kammen DP, Goodman L. An international survey-based algorithm for the pharmacologic treatment of chorea in Huntington’s disease. Version 2. PLoS Curr 2011 [revised 2011 Oct 11]; 3: RRN1260.

DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997; 277: 1990-1993.

Duff K, Paulsen JS, Beglinger LJ, Langbehn DR, Stout JC. Predict-HD Investigators of the Huntington Study Group. Psychiatric symptoms in Huntington’s disease before diagnosis: the predict-HD study. Biol Psychiatry 2007; 62: 1341-1346.

Groves M, van Duijn E, Anderson K, Craufurd D, Edmondson MC, Goodman N et al. An international survey-based algorithm for the pharmacologic treatment of irritability in Huntington’s disease. PLoS Curr 2011; 3: RRN1259.

Hult Lundh S, Nilsson N, Soylu R, Kirik D, Petersén Å. Hypothalamic expression of mutant huntingtin contributes to the development of depressive-like behavior in the BAC transgenic mouse model of Huntington’s disease. Hum Mol Genet 2013; 22: 3485-3497.

Huntington G. On Chorea. Medical and Surgical Reporter of Philadelphia 1872; 26: 317-321.

Losekoot M, van Belzen Martine, Seneca Sara, Bauer P, Stenhouse Susan, Barton David. EMQN/CMGS best practical guidelines for the molecular genetic testing of Huntington disease. Eur J Hum Genet 2013; 21: 480-486.

Mestre T, Ferreira J, Coelho MM, Rosa M, Sampaio C. Therapeutic interventions for symptomatic treatment in Huntington’s disease. Cochrane Database Syst Rev 2009; CD006456.

Mestre T, Ferreira J, Coelho MM, Rosa M, Sampaio C. Therapeutic interventions for disease progression in Huntington’s disease. Cochrane Database Syst Rev 2009; CD006455.

Petersén A, Gil J, Maat-Schieman ML, Björkqvist M, Tanila H, Araújo IM et al. Orexin loss in Huntington’s disease. Hum Mol Genet 2005; 14: 39-47.

Petersén Å, Gabery S. Hypothalamic and limbic system changes in Huntington’s Disease. Journal of Huntington Disease 1; 2012: 13-24.

Philips W, Shannon KM, Barker RA. The current clinical management of Huntington’s disease. Mov Dis 2008; 23: 1491-1504.

Robins Wahlin T-B, Lundin A, Dear K. Early cognitive deficits in Swedish gene carriers of Huntinton’s disease. Neuropsychology 2007; 21: 31-44.

Robins Wahlin T-B. To know or not to know: a review of suicidal ideation and behaviour in preclinical Huntington’s disease. Patient Educ Couns 2007; 65: 279-287.

Ross CA, Tabrizi SJ. Huntington’s disease: from molecular pathogenesis to clinical treatment. Lancet Neurol 2011;10: 83-98.

Sah DW, Aronin N. Oligonucleotide therapeutic approaches for Huntington disease. J Clin Invest 2011; 121: 500-507.

Tabrizi SJ, Scahill RI, Owen G, Durr A, Leavitt BR, Roos RA et al. TRACK-HD Investigators. Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington’s disease in the TRACK-HD study: analysis of 36-month observational data. Lancet Neurol 2013; 12: 637-649.

Walker FO. Huntington’s disease. Lancet 2007; 369: 218-228.

Database references

OMIM (Online Mendelian Inheritance in Man)
Search: huntington

GeneReviews (University of Washington)
www.genetests.org (select GeneReviews, then Titles)
Search: huntington disease

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

An extensive revision of the original material on Huntington disease was made in 2010. The material is based on the combined knowledge of medical experts working in Sweden who are members of networks focusing on Huntington disease.

Further revision of the medical elements of this material was carried out in 2014 by Associate Professor Åsa Petersén at Lund University.

The relevant organizations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Date of publication: 2014-10-16
Version: 3.4
Publication date of the Swedish version: 2014-06-10

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.


About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.