Huntington's AustraliaWhat is Huntington’s disease?

What is Huntington’s disease?

huntington-disease

What is Huntington’s disease?

Huntington’s disease, often abbreviated to HD, was first described in medical literature in 1872 by Dr George Huntington, a physician from Long Island, New York. Initially described by Huntington as a ‘medical curiosity’, the condition remains rare but has significant impacts on people and families.

Huntington’s disease is a progressive neurological condition that affects around 8.9 per 100,000 Australians. It affects both men and women and occurs throughout the world. As a genetic condition, people with a parent who carries the Huntington’s gene have a 50% chance of inheriting it. As a result, there are often several people in a family with HD.

What causes Huntington’s disease?

Huntington’s disease is caused by a genetic expansion. However, to understand what causes Huntington’s disease, we first need to understand DNA. DNA is made up of thousands of genes, and each of us is born with the huntingtin gene (HTT).

In some people, a mistake in the DNA instructions causes an alteration in this gene, preventing it from producing the huntingtin protein. As this protein is essential for healthy brain development, it causes damage instead, leading people to experience the symptoms of Huntington’s disease.

When the Huntington gene was discovered in 1993, medical professionals developed a direct gene test. With it, people can find out whether they have the expanded gene.

Sometimes, the HD community refers to someone as gene-positive if they have the gene but have not yet developed symptoms.

What are Huntington’s disease symptoms?

Huntington’s disease affects the whole brain, but certain areas are more vulnerable than others. Generally, the symptoms of Huntington’s occur in three main areas:

  • Physical: Uncontrolled movements might occur, and it can become harder to do what you want to do.
  • Cognitive: Difficulties with thinking, planning, concentrating, and remembering.
  • Emotional: Changes in behaviour, mood, and personality.

Most people with HD might not experience symptoms until they’re in their 30s or 40s, and sometimes later or earlier. For each person, the impact of HD will be different. Even people in the same family will experience it uniquely.

Is there a treatment for Huntington’s disease?

Currently, there are no treatments that can prevent Huntington’s disease from occurring. When a person with HD dies, it is typically from complications of the disease. However, clinical trials and research are always underway to improve our understanding of the disease and how we can slow or stop its effects.

At Huntington’s Australia, we offer a range of supports and services to improve the quality of life for people living with Huntington’s disease in Australia, and their families. We treat each person as an individual with their own goals and needs at all stages of their HD journey.

Huntington’s Australia is here to help

Huntington’s disease impacts each person differently, and nobody should live with it alone. Huntington’s Australia offers support and services for people living with HD, as well as access to resources, community connections, and information.

Reach out to the HA team today to learn about the help available for you.

Frequently Asked Questions

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

Huntington’s disease (HD) is an inherited neurological condition that is passed down from parent to child.

This means that if you have a parent with the expanded gene, you have a 50% risk of inheriting it yourself. If neither of your parents has Huntington’s, then you are not at risk of inheriting the gene.

Predictive testing is an optional medical process in which individuals can find out whether they have inherited the Huntingtin gene from their parents. If the expanded gene is discovered, the results indicate that the individual would develop Huntington’s disease in the future.

There is no right or wrong answer to this question. Making the decision to be tested for Huntington’s disease is very difficult, deeply personal, 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 Huntington’s and would like to find out if you are gene positive, you can contact a Predictive Testing Centre.

As part of this process, you will engage in counselling sessions with a genetic counsellor. They will be able to provide you with further information about the program and what is involved. To find a service near you, click here.

Yes, you can still be tested for Huntington’s disease. 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), people are now able to conceive a child without the expanded HD gene and without disclosing their own gene status.


For further information, please reach out to our Programs team on 1800 244 735 or programs@huntingtinsaustralia.au.

If you are gene positive for Huntington’s disease, each one of your children has a 50% chance of inheriting the expanded HD gene.

Statistics now indicate that Huntington’s disease has a prevalence of 8-10 per 100,000 people. However, without accurate data, researchers can’t be certain of its prevalence.

This is incorrect. The Huntingtin gene is on chromosome 4, which is a non-sex chromosome. Therefore, Huntington’s disease affects men and women equally.

Juvenile Huntington’s disease is when someone develops symptoms and is diagnosed with HD before the age of 20. Like the adult form, it is hereditary.

It occurs when the CAG repeat is expanded to over 60 repeats, and accounts for 3-10% of all cases in the Western world. To find out more about Juvenile HD, click here.

As Huntington’s disease 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. Likewise, each individual with Huntington’s experiences symptoms differently, so it’s difficult to predict someone’s lifespan.

It is impossible to predict exactly when you will develop symptoms. However, most people begin to show signs of Huntington’s disease between the ages of 30 and 50 years. Learn more about HD symptoms here.

Yes, there is medication available to assist with managing symptoms of Huntington’s disease. Please speak to your health professionals for further information.

At the moment, there is no cure for HD. However, a cure is being heavily researched in Australia and internationally, with ongoing advancements.

For more information, visit Huntington’s Australia’s Resources and Research page.

Medication cannot slow the progression of Huntington’s disease. However, research has shown that maintaining an active lifestyle with regular exercise and mental stimulation can have a positive impact on the progression of HD.

As Huntington’s disease is a rare condition, your GP may not have encountered it before. Unless HD is known in your family, this is not something medical practitioners would routinely look for, as there are often other explanations for your symptoms. You should always tell your GP about any family history of HD.

Clinical trials are medical research studies involving people. New medicines are first studied in a laboratory. Those that deliver promising and safe results 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.