Huntington Disease (HD) is a fatal genetic brain disorder affecting nearly one million people globally. It is among the most common hereditary brain disorders, yet few people know about it and no cure exists.
HD causes the progressive breakdown of nerve cells in the brain, deteriorating a person’s physical and mental abilities.
It begins with personality changes and progresses to loss of body function, eventually robbing the person of the ability to talk, walk, swallow, think and reason. Symptoms generally present between ages 30 and 50.
Every child of a parent with HD has a 50/50 chance of carrying the faulty gene that causes HD.
In approximately 10% of cases it affects children or adolescents. Juvenile HD (JHD) progresses more rapidly than adult onset HD.
The world’s highest concentration of HD is found in pockets of South America.
Researchers identified the gene that causes it in 1993 by studying families in Lake Maracaibo, Venezuela, where there was an incidence of 700 per 100,000 people, where normally in Western countries is of 5-7 to 100,000.
Stigma around HD has forced those affected by the disease to hide in shame for generations, hindering the availability of services to improve their daily lives. Tragically, suicide is common.
Some treatments to manage symptoms are currently available and potential new medicines that could help to slow its progression are currently being tested.
The Stigma around HD
People with symptomatic HD can have uncontrolled, irregular, rapid, jerky movements, called chorea, and cognitive challenges such as loss of speed and flexibility in thinking and memory loss.
They can also have psychiatric disorders including depression and anxiety. In some areas of the world, society has shunned these families, thinking the disease is contagious or even a curse.
This has lead those affected to hide for fear of public criticism, discrimination and unfair treatment.