What Is Huntington’s Disease?
Huntington’s disease (HD) is a progressive genetic disorder that affects the brain’s nerve cells, leading to the gradual loss of physical, cognitive, and emotional abilities.
It occurs when a defective gene interferes with the production of the protein Huntingtin, essential for healthy brain function. This genetic mutation causes the DNA building blocks (CAG repeats) to multiply abnormally.
If a parent carries the defective gene, each child has a 50% chance of inheriting it. In rare cases, HD can occur without any family history – this is known as sporadic Huntington’s disease.
HD usually begins between ages 30 and 50, though juvenile cases (under 20 years old) can occur, progressing more rapidly.
Early Signs and Symptoms of Huntington’s Disease
Huntington’s affects several brain areas responsible for voluntary movement, emotion, and cognition.
Early symptoms may include:
- Mild clumsiness or imbalance
- Changes in mood or behaviour
- Difficulty concentrating or organizing thoughts
- Involuntary body movements (chorea)
Common Movement Symptoms
People with Huntington’s disease often experience involuntary movements and muscle problems, including:
- Jerking or writhing movements (chorea)
- Muscle stiffness or contractures
- Abnormal eye movements
- Difficulty walking or maintaining balance
- Slurred speech and difficulty swallowing
In later stages, some may develop akinesia (loss of movement) or dystonia (abnormal postures).
Over time, individuals may require a wheelchair and eventually become bed-bound.
Cognitive and Mental Health Changes
Huntington’s disease also causes cognitive decline and psychiatric symptoms, such as:
- Difficulty planning, prioritising, or focusing
- Obsessive or repetitive behaviours
- Impulse control issues
- Slow thinking or trouble finding words
- Depression, irritability, or apathy
- Anxiety, mania, or bipolar disorder
It’s common for people with HD to experience depression or mood disorders, both as a reaction to diagnosis and as a result of brain changes.
How Is Huntington’s Disease Diagnosed?
Diagnosis usually involves several steps:
Neurological Examination
A neurologist reviews medical and family history, checking reflexes, balance, hearing, movement, and mental status.
Genetic Testing
A direct genetic test measures the number of CAG repeats in the HD gene using a blood sample.
- 36 or more repeats confirm a diagnosis of HD.
- 26 or fewer repeats rule it out.
Diagnostic Imaging
CT or MRI scans may show brain changes such as tissue shrinkage or enlarged ventricles, especially in later stages.
Specialists like psychiatrists, genetic counsellors, and speech pathologists may be involved for a full diagnosis and care plan.
Treatment and Support for Huntington’s Disease
While there is currently no cure, treatments focus on managing symptoms and maintaining quality of life.
Common therapies include:
- Medication – such as tetrabenazine or deuterabenazine for movement control.
- Antipsychotics – to help manage chorea, hallucinations, and emotional instability.
- Supportive therapies – physical therapy, speech therapy, and counselling for emotional well-being.
At Lotus Disability Care, we support individuals and families living with Huntington’s Disease.
Our team helps clients maintain independence, access the right NDIS supports, and ensure caregivers receive respite and emotional support.
Get Help and More Information
If you or a loved one has been diagnosed with Huntington’s Disease, there is support available.
Reach out to trusted organisations for advice, counselling, and care options:
- 13 HEALTH: 13 43 25 84
- NeuroAssist InfoLine: 1800 177 591
- MS QLD: 1800 177 591 | info@msqld.org.au
- Huntington’s Australia: 1800 244 735 | admin@huntingtonsaustralia.au | huntingtonsaustralia.au
