What is Huntington’s disease?

Huntington’s disease is an inherited condition that affects the nervous system. Although Huntington’s disease can occur at any age, symptoms often do not appear until the middle age.

Huntington’s disease is progressive, meaning it worsens over time. While there is no cure, treatment can alleviate symptoms and support is available.

What are the symptoms of Huntington’s disease?

Huntington’s disease can affect someone physically, their thinking and their behaviour. Most people start experiencing symptoms as young adults or in middle age, though some people develop a rapidly progressive form of the disease before the age of 20.

Physical symptoms include:

• stiffness
• rapid, involuntary movements of the fingers, limbs or facial muscles (called chorea). This can progress from mild movements to severe thrashing as the disease progresses
• reduced movements of the eyes
• loss of fine motor coordination, such as writing
• changes in balance and co-ordination
• loss of control of bodily functions such as swallowing and speaking
• fatigue

Cognitive (thinking) changes may include:

• difficulty concentrating
• impaired thinking, planning and organisation
• reduced short-term memory
• being impulsive or disinhibited
• fixating on thoughts, ideas or feelings (known as perseveration)
• difficulty communicating (speaking or findings words)
• difficulty learning new things

Emotional changes may include:

• changes in mood
• personality changes
• loss of drive and initiative
• impulsiveness
• obsessive compulsive behaviour
• anxiety
• depression
• irritability and aggression
• loss of empathy
• changes in personal hygiene
• psychosis

In the later states of the disease, someone with Huntington’s disease may develop difficulty swallowing, leading to weight loss and a risk of choking. They are at increased risk of falls or developing pneumonia, and may develop incontinence.

What causes Huntington’s disease?

Huntington’s disease is caused by a faulty gene that someone is born with. Someone only needs to inherit the gene from one parent. If someone has the gene, there is a 1 in 2 chance that they will pass it on to their child.

If a child does not inherit the gene, they will not develop Huntington’s disease or pass it on to their own children or grandchildren.

The disease results in the death of brain cells. The parts of the brain affected are the frontal lobe and basal ganglia, which are responsible for movement, thinking, personality and emotions.

When should I see my doctor?

If you have a blood relative who has been diagnosed with Huntington’s disease, you can have a gene test to see if you carry the gene.

If you are 18 years old or older, talk to your doctor about whether you need to have the test.

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How is Huntington’s disease diagnosed?

If there is a chance you have Huntington’s disease, your doctor will talk to you in detail about your family history and look for any signs or symptoms of the disease. They may order an MRI or CT scan to look at the brain, but these may not be very useful in the early stages.

Other tests may include:

• neurological tests to look at the nerves
• psychological tests to check mental health
• neuropsychological tests to check memory, language and reasoning

Genetic testing, done with a blood test, can be used to confirm a diagnosis

How is Huntington’s disease managed?

There is no cure or effective treatment for Huntington’s disease. It is usually managed by a team including a doctor, neurologist, psychiatrist, dietitian, social worker and palliative care specialist.

Options include:

• physiotherapy, occupational therapy and speech therapy
• medication to alleviate changes in mood
• medication to help with jerky movements and difficulty swallowing
• financial support through Centrelink
• respite care, at home or in residential facilities
• supported accommodation including private residential facilities, shared supported accommodation, accommodation for young people with Huntington’s disease, and residential aged care

The best way for someone with Huntington’s disease to keep well is by keeping physically and mentally active and looking after their mental health, for example by using mindfulness or meditation.

Many people with Huntington’s disease find it helpful to plan for the future. Considering financial, legal and care arrangements can give people with Huntington’s disease a sense of empowerment, and talking openly with loved ones can be a relief.

Sometimes people with Huntington’s disease do not notice their symptoms progressing, and it can be difficult for family and carers to understand what is happening. Support services are available to help carers, including respite care and supported accommodation options.

Can Huntington’s disease be prevented?

If you carry the gene for Huntington’s disease, you can talk to your doctor or a genetic counsellor about prenatal genetic testing or pre-implantation genetic diagnosis. It is best to have genetic counselling before considering a pregnancy. You can find more information in this booklet from the Centre for Genetics Education.

Resources and support

There are different Huntington’s support organisations in each state and territory.

Huntington’s NSW/ACT (02) 9874 9777

Huntington’s disease Tasmania

Huntington’s Queensland (07) 3064 3222

Huntington’s Victoria (03) 9818 6333

Huntington’s SA & NT 0424 062 121