Huntington's Disease Association Northern Ireland

Huntington’s Disease (HD) is a rare, inherited and highly complex neuro-degenerative disorder, with a fluctuating progression, affecting both mind and body. It is caused by a faulty gene which progressively destroys the central area of the brain affecting all aspects of an individual’s life including physical, cognitive and behavioural processes. Because the damage caused by HD begins inside the b

rain, an individual with HD may look relatively able bodied until the later stages of the disease. As well as the physical and mental symptoms of HD, many years of fear, shame and isolation caused by stigma has had a devastating effect on individuals and their families over successive generations. Huntingtons Disease was named after an American doctor called George Huntington (1850-1916). George Huntington spent a lifetime studying this specific medical infirmity but still worked as a general practitioner in medicine. He was never on a medical faculty nor did he do any other research but he will be remembered for making the most lucid and accurate description of this illness. HD is described as a ‘neuro-degenerative’ disorder as it damages or kills the neurons in the brain. 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. But recent research shows exciting advancements in treatments and medication. See our Research page for more information. Most HD sufferers in Northern Ireland are cared for at home by family members. It is essential for carers to develop a comprehensive understanding of the complexities of HD and how it can impact on all members of the family.