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huntington-disease

What is Huntington’s Disease?

Huntington’s disease (often abbreviated “HD”) was first described in medical literature in 1872 by Dr George Huntington, a physician from Long Island, New York. The disease affects men and women alike, occurring throughout the world. The prevalence is about 7-10 per 100,000 in people of European ancestry, however it can be less or greater in other countries.

Huntington’s disease is a progressive neurological disease. As it is an inherited condition, there are often several people in a family with HD. Symptoms commonly begin between 35 and 50 years but can be earlier or later. It can begin in childhood but that is rarely seen in Australia.

Symptoms

Symptoms fall into 3 main categories: cognitive, motor and psychological:

  • Cognitive symptoms include impaired judgement and difficulty thinking clearly.
  • Motor symptoms include involuntary movements, also called chorea, named after a Greek word that means ‘dance’.
  • Psychological symptoms include fluctuations in mood and emotional responses, depression and anxiety and other more serious problems.

The extent to which an individual experiences these symptoms varies considerably, even in members of the same family. In other words, each person with HD is unique and one size does not fit all.

More about symptoms

Early symptoms may include subtle changes in coordination, perhaps some involuntary movements, difficulty thinking through problems and often a depressed or irritable mood. The person may be less able to carry out their work at their customary level.​

With time, the involuntary movements may increase and make leisure and daily living activities such as showering and dressing more difficult. Neurologists (doctors who specialize in brain disorders) may prescribe medication to help reduce the movements. Occupational and physical therapists help with practical management of the motor disturbances and involuntary movements. Psychologists and psychiatrists help the person deal with changes in thinking and reasoning abilities and with emotional and behavioural issues. Medication for significant psychological difficulties can be prescribed. Diminished speech and difficulty swallowing may require help from a speech pathologist.

In due course, the risk of choking on food and drink can become a major concern. Chorea may become more severe or it may lessen or cease altogether. The person with HD loses the ability to eat, walk and speak and becomes dependent on others for their care. Importantly, he or she is still able to comprehend language and retains awareness of their family and friends and their surroundings. When a person with HD dies, it is typically from complications of the disease.​​ Death often occurs 15-20 years after symptoms begin.

Frequently asked questions

Every child of a parent who carries the defective gene has a 50% chance of inheriting the gene. If your parent does not have the defective gene then you are not at risk of developing HD or of passing it on.

Huntington’s disease is an inherited neurological condition which is passed down from parent to child. This means that if you have a parent with the defective gene then you have a 50% risk of inheriting the defective gene yourself. If neither of your parents have HD then you are not at risk of inheriting the defective gene.

In 1993 the Huntington gene was discovered which allowed for the development of a direct gene test. This means that you can find out whether you have the gene before the onset of symptoms. The predictive test identifies if the HD gene you inherited from your parent is faulty.

There is no right or wrong answer to this question. Making the decision to be tested is very difficult and not one to rush into. We recommend that you contact a Predictive Testing Centre to discuss this decision at greater length. To find a service near you click here.

If you are at risk of HD and would like to find out if you are gene positive then you will need to contact a Predictive Testing Centre. As part of this process you will engage in some counselling sessions with a genetic counsellor. They will be able to provide you with further information on the program and details about what is involved.

The answer is yes, however it is best to talk to the genetic counsellor at the predictive testing program about this as your gene status will have implications for your parent, particularly if you are found to be gene positive.

Fortunately with the development of IVF (in vitro fertilisation) and PGD (Pre-Implantation Genetic Diagnosis), this allows you to conceive a child without the defective HD gene and not disclose your own gene status. For further information please reach out to our Programs team on 1800 244 735 or programs@huntingtinsaustralia.au.

This means that each one of your children has a 50% chance of inheriting the defective HD gene.

Statistics now indicate that HD has a prevalence of between 7-10 people per 100,000

This is incorrect. The HD gene is on chromosome 4 which is a non-sex chromosome. Therefore it equally affects men and women.

Juvenile HD affects people under the age of 20 years and like the adult form is hereditary in nature. It occurs when the CAG repeat is expanded to over 60 repeats. Juvenile HD accounts for 3-10% of all HD cases in the western world. To find out more on Juvenile HD click here.

As HD is a neurodegenerative condition people typically live for 10 – 25 years following the onset of symptoms. It is difficult to determine when onset of symptoms occurs as symptoms may initially be gradual and subtle.

It is impossible to predict exactly when you will develop symptoms. However, most people begin to show signs of HD between the ages of 30years – 50years.

Yes, there is medication available to assist with managing symptoms of HD. Please see your health professionals for further information.

At the moment there is not a cure for HD. However, a cure is being heavily researched both in Australia and internationally. For more information visit Huntington Study Group or Enroll-HD.

Medication cannot slow the progression of HD, however maintaining an active lifestyle (e.g. regular exercise and mental stimulation) has shown, through research, to have a positive impact on the progression of HD.

As HD is a rare condition, your GP may not have come across this before. Unless HD is known in your family, this is not something GPs would routinely look for as there can often be other explanations for your symptoms other than HD. You should always tell your GP of any family history relating to HD.

Clinical trials are medical research studies involving people. New medicines are first studied in a laboratory. Those that are promising are then submitted to quality health care committees for review and approval before any studies with people can begin. For further information visit Huntington Study Group or Enroll-HD.

Our Team

Lenni Duffield

Chief Executive Officer

Alison Weir

Head of Business Development & Fundraising

Julie Neil

Head of Community
Programs & Services

Leah Atkinson
Leah Atkinson

Head of Finance
& Corporate Services

Alison Weir

Head of Business Development & Fundraising

Julie Neil

Head of Community Programs & Services

Leah Atkinson
Leah Atkinson

Head of Finance & Corporate Services

NDIS Services

Abiha

Team Leader NDIS Services

Alison

NDIS Support Coordinator QLD

Arpita

NDIS Support Coordinator WA

Irene

NDIS Support Coordinator TAS

Janine Hall b&w
Janine

NDIS Specialist Support Coordinator WA

Justine

NDIS Support Coordinator NSW

Kate

NDIS Support Coordinator NSW

Malisha

NDIS Support Coordinator NSW

Sharon

NDIS Specialist Support Coordinator NSW

Abiha

Team Leader NDIS Services

Alison

NDIS Support Coordinator QLD

Arpita

NDIS Support Coordinator WA

Irene

NDIS Support Coordinator TAS

Janine Hall b&w
Janine

NDIS Specialist Support Coordinator WA

Justine

NDIS Support Coordinator NSW

Kate

NDIS Support Coordinator NSW

Malisha

NDIS Support Coordinator NSW

Sharon

NDIS Specialist Support Coordinator NSW

Community Programs

Monica

Team Leader Community Programs

Alyse

HD Specialist QLD

Lauren

HD Specialist TAS

linda

HD Specialist NSW

Maggie

HD Specialist WA

Nerilee

HD Specialist WA

Tressa

HD Specialist QLD

Monica

Team Leader Community Programs

Alyse

HD Specialist QLD

Lauren

HD Specialist TAS

Linda

HD Specialist nSW

Maggie

HD Specialist WA

Nerilee

HD Specialist WA

Tressa

HD Specialist QLD

Finance & Coporate Services

Cynthia

Assistant Accountant

Elle

Administration Officer SA

Karen

Executive Assistant & Administration Officer WA

Kylie

Administration Officer QLD

Janine Hall b&w
Mandy

Administration Officer TAS

Rebecca (maternity leave)

Assistant Accountant

Samantha

Finance Officer

Stewart

Administration Officer NSW

Cynthia

Assistant Accountant

Elle

Administration Officer SA

Karen

Executive Assistant & Administration Officer WA

Kylie

Administration Officer QLD

Janine Hall b&w
Mandy

Administration Officer TAS

Rebecca (Maternity Leave)

Assistant Accountant

Samantha

Finance Officer

Stewart

Administration Officer

Business Development & Fundraising

Cathy

Fundraising & Events Coordinator

Nikka

Communications Coordinator

Cathy Holland

Fundraising & Events Coordinator

Nikka

Communications Coordinator

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