Huntington’s disease is a genetic, neurodegenerative condition characterised by chorea (involuntary movements of the face, mouth, trunk, arms and legs, often resembling dancing or fidgeting), cognitive (thinking) and emotional changes.^1,2 Huntington’s disease is caused by expanded CAG repeats in the huntingtin/HTT gene. This leads to death of nerve cells (neurons) in certain areas of the brain that control muscle movement, emotion and thinking.^2,3

Most people start experiencing symptoms between 30 – 50 years old. Some people may develop symptoms earlier before 20 years old; this is known as juvenile-onset Huntington’s disease.^1,2 Huntington’s disease is progressive and symptoms worsen over 10 – 25 years.⁴ Huntington’s disease affects both males and females equally.

Synonyms: Huntington disease, Huntington chorea, HD, chronic progressive chorea, degenerative chorea, hereditary chorea, Woody Guthrie’s Disease.^3,5

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:399 Huntington disease  

ICD-11: 8A01.10 Huntington disease 

Huntington’s disease affects multiple body systems and symptoms often worsen over time.¹ Symptoms may vary widely between individuals.

Common signs and symptoms include:^1,2,5-8

• chorea describes uncontrolled, jerky muscle movement that often resembles dancing or fidgeting. It comes from a Greek word that means “to dance”. Chorea can affect the face, arms and legs, and spread to other muscles.
• dystonia (uncontrollable muscle contractions)
• decline in balance and coordination
• difficulties with speech and swallowing and may be at risk of choking
• weight loss
• sleep disturbances
• cognitive (thinking) changes such as poor concentration, reduced short-term memory, difficulty thinking, planning and organising
• emotional changes such as depression, apathy (lack of interest), irritability, mood swings and personality changes

As the disease progresses, individuals with Huntington’s disease may develop dementia, struggle with daily activities, and be bedridden.^1,3

In juvenile-onset Huntington’s disease, some other common symptoms include speech and learning difficulties, ataxia (poor muscle control that causes clumsy movement and incoordination), and seizures.²

Please speak to your medical team to learn more about the symptoms and health implications of Huntington’s disease.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Orphanet:Disability – Huntington’s disease has information about the activity limitations that people with Huntington’s disease may face. Please note that this was last updated in 2017 and may not reflect the most current information.

Huntington’s disease is a genetic condition caused by an error in the HTT gene on chromosome 4, where a part of the gene that is made up of CAG bases is abnormally repeated.⁹  

The length of the CAG repeats can affect the age of symptom onset and severity.⁹ These CAG repeats can be unstable in some individuals and expand over time, resulting in increased number of repeats and earlier age of onset over generations.³

• Unaffected individuals have 26 or less CAG repeats in their HTT gene.^4,9 

• Individuals with 27-35 CAG repeats (intermediate alleles) tend to not develop symptoms, but may pass on the allele to their children. As CAG repeats can be unstable, there is a risk that the repeats can further expand during transmission to the next generation and their children may inherit an allele with a higher CAG repeat number. 

• Individuals with Huntington’s disease usually have more than 36 CAG repeats. 

Everyone have two copies (alleles) of the HTT gene – one on each chromosome that is inherited from each parent. Huntington’s disease is an autosomal dominant condition, which means that having just one affected copy of the HTT gene can result in Huntington’s disease.⁹ The copy with the expanded repeats can be passed on to the next generation. If a parent has the copy with the expanded repeats, there is a 50% chance that they will pass that copy to each of their children. More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at: 

• Information on Genetic Services 
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed 

Diagnosis of Huntington’s disease may be made based on family history, physical examination, neuroimaging of the brain (MRI or CT scans) and other tests such as:^1,8 

• neurological tests to check the function of your brain and nervous system  
• psychological tests to assess your mental health 
• cognitive tests to assess your memory, thinking and reasoning skills 

More information on diagnostic criteria can be found at Improving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease. 

Genetic tests to look for CAG repeat in the HTT gene may be performed.⁸ More information about Huntington disease and genetic testing can be found at:  

• Centre for Genetics Education: Huntington disease and genetic testing. 
• Huntington’s Disease Network of Australia: Accessing Genetic Testing Services – information about genetic testing services in each state and territory in Australia 

A differential diagnosis can potentially rule out other conditions that have similar symptoms such as Dentatorubral-Pallidoluysian atrophy, familial Creutzfeldt-Jakob disease, familial frontotemporal dementia with parkinsonism-17, Hallervorden-Spatz disease, hereditary cerebellar ataxia, Huntington’s disease-like 1, Huntington’s disease-like 2, multiple system atrophy, McLeod neuroacanthocytosis, Tourette syndrome, Sydenham’s chorea, spinocerebellar ataxia type 17 and Wilson’s disease.^3,9

Please speak to your medical team to learn more about the available diagnostic pathways for Huntington’s disease. 

There is currently no curative treatment for Huntington’s disease. Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team. This may include drug treatment for chorea if it causes distress or discomfort, physiotherapy, use of assistive equipment and mobility aids, speech and language therapy and psychological support.⁷

Individuals may be monitored for swallowing disorders, severity of chorea, rigidity, gait balance, behavioural and cognitive changes and managed accordingly.^7,9 

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the care of Huntington’s disease may include general practitioners (GP), neurologists, dentists, dietitians, occupational therapists, physiotherapists, psychiatrists, palliative care specialists and speech pathologists.^1,7 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here. 

Huntington’s Australia: HD Clinics has a list of HD clinics or hospitals in Australia.

We are not aware of any clinical care guidelines for Huntington’s disease in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page. 

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date: 

• International Guidelines for the Treatment of Huntington’s Disease developed by the European Huntington’s Disease Network involving international multidisciplinary Huntington disease health professionals (including Australia); published in 2019.  
• Clinical Management of Neuropsychiatric Symptoms of Huntington Disease: Expert-Based Consensus Guidelines on Agitation, Anxiety, Apathy, Psychosis and Sleep Disorders developed by international Huntington’s disease expert neurologists and psychiatrists (including Australia); published in 2018. 
• Improving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease developed by neurologists and health professionals from five different countries (including Australia); published in 2025. 
• OrphanAnesthesia has Anaesthesia recommendations for Huntington’s disease; published in 2022. 

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

Information about Huntington’s disease research in Australia can be found at: 

• Huntington’s Australia: Research                                                  
• The Florey: Huntington’s disease
• Huntington’s Disease Research Westmead Hospital

Map-HD Registry managed by the Huntington’s Disease Network of Australia (Monash University) is an Australian wide registry for people living with Huntington’s disease. 

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisations: 

Huntington’s Australia 
Website: https://huntingtonsaustralia.au/ 

Huntington’s Australia is the peak national body dedicated to supporting individuals and families impacted by Huntington’s disease across Australia. 

Huntington’s Victoria 
Website: https://huntingtonsvic.org.au/ 

Huntington’s Victoria is a non-profit organisation that supports individuals impacted by the Huntington’s disease. 

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Huntington’s disease varies between individuals, and each person’s experience is unique.  

Personal story shared with RVA: Kathleen’s Story 

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Huntington’s Australia: Support & Services have information about in-person and online support for families across Australia. 

Huntington’s Victoria: Resources has information and resources for individuals and carers. 

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Huntington’s disease can be found at: 

• healthdirect: Huntington’s disease 
• Better Health Channel: Huntington’s disease 
• Genetic and Rare Diseases (GARD) Information Center: Huntington disease 
• National Organization for Rare Disorders (NORD): Huntington’s Disease 

Royal College of Pathologists of Australasia (RCPA): Huntington disease genetic test 

GeneReviews®: Huntington disease 

Online Mendelian Inheritance in Man, OMIM®:#143100 Huntington disease; HD 

Orphanet: Huntington disease  

Orphanet: Juvenile Huntington disease 

Human Phenotype Ontology (HPO): Huntington disease 

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Huntington’s Australia. 

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.