HD is described as a ‘neuro-degenerative’ disorder as it damages or kills the neurons in the brain.
HD is a genetic disease. Every child of an affected parent has a 50% chance of inheriting the gene mutation which causes the disease. A simple blood test indicates whether a person has tested positive or negative for the gene mutation. If tested positive, the individual will develop the disease at some point in their lifespan.
HD affects males and females equally
HD affects approximately 1 in 10,000 individuals in Europe and is sometimes referred to as a ‘rare’ or ‘orphan’ disease, although a recent statistical report from 2010 indicates that the prevalence of HD in the UK has been severely underestimated and that the true figure is probably double the previous estimates.
HD usually affects adults between the ages of 30-50 and is often described as an “adult-onset disease”. Although it can occur anywhere from age 2-70, it is less common in children and older people. It is said that those who develop HD earlier in life may find their illness progresses at a faster rate.
Life expectancy from onset is approximately 15-20 years.
HD causes progressive deterioration – physically, cognitively and emotionally until the individual becomes dependent on the help of others.
No two patients’ condition progress in exactly the same way. Symptoms can vary widely and the rate of progression is difficult to predict with any real accuracy.
HD is referred to as a ‘disease of families’ where several family members from different generations may be symptomatic at the same time.
As a ‘disease of families’ no family member is left untouched because if they do not have symptoms themselves or have tested negative they are still affected by the emotional and practical implications of the disease on the family with many people having a caring role to play.
Most HD sufferers in Northern Ireland are cared for at home by family members although many will require the assistance of home care workers, respite in care homes and eventually nursing home care. It is essential for carers, both family and professionals, to develop an understanding of the complexities of HD and how it can impact on all members of the family.
There is no known cure however this is an unprecedented time for Huntington's disease families. The first ever trial is underway of a drug that aims to reduce the brain's production of the mutant protein - the known cause of HD. Several other drugs to do the same thing by different approaches are under development and expected to reach trials soon. There are currently 15 clinical trials of different treatments currently underway so there is real hope for a cure. See our Research News page for more information.