Huntington’s disease (HD) is an inherited, relentlessly degenerative brain disorder with physical, cognitive and emotional symptoms. It affects both males and females and symptoms usually begin to appear between 30 and 50 years of age. Less commonly, HD may develop in youth (under 20 years – Juvenile HD) or older adults (Late Onset HD).
HD is caused by a defective gene on chromosome 4 that causes an excessive build-up of the protein, ‘huntingtin’. This protein build-up damages nerve cells in parts of the brain, affecting neurological function and causing HD. Each child of a parent with the defective gene has a 50% chance of inheriting HD.
It was estimated in 1996 that the prevalence for HD in NSW is 7.3 people per 100,000 of the population. Those at 50% risk of inheriting the HD mutation are estimated at 25.2 per 100,000.
Based on a population for NSW and ACT of 8,375,100 (ABS March 2018) this translates to:
- 612 people with HD
- 2,110 people at 50% risk.
In fact the prevalence is probably higher than this. New prevalence data are expected in the near future.
Currently, there is no definitive treatment or cure for HD. However, research has led to improvements in the management of symptoms. Research is being conducted worldwide to find effective treatments to delay the onset of HD and to slow its progression.