Huntington's disease (often abbreviated "HD") was first described in medical literature in 1872 by Dr. George Huntington, a physician from Long Island, New York. The disease affects men and women alike, occurring at a rate of about 7-10 per 100,000 in most Western countries.
Onset of symptoms can begin at any age, although the mean age of onset is generally between 30 to 50 years of age. The first symptoms of the disease may be physical e.g. small involuntary movements or problems with coordination or may be cognitive or psychiatric changes
Less common is onset before the age of twenty, and the condition is classified as Juvenile HD which progresses faster with slightly different symptoms. When symptoms start over the age of 50 years it is usually referred to as late onset HD.
HD is an inherited (genetic) disease and in 1993 genetic testing was made possible with the discovery and isolation of the faulty gene. At this time international guidelines stipulate that individuals need to be 18 years or over to undergo predictive testing for HD.
The greatest cause for optimism is the current research into HD. Organisations like the Hereditary Disease Foundation in America and the European Huntington's Disease Network (Euro-HD) are leading the way in the development of a cure or treatment for Huntington's disease. Much of this work is supported by the HD community and not for profit organisations like Huntington's SA & NT Inc with the aim of increasing public and professional awareness about the disease.
Although symptoms of HD vary from person to person, even within the same family, the progression of the disease can be roughly divided into three stages:
Early Stage HD usually includes subtle changes in coordination, perhaps some involuntary movements (chorea), difficulty thinking through problems and often, a depressed or irritable mood. The effects of the disease may make the person less able to work at their customary level and they may be less able to carry out their regular activities at home.
In the Middle Stage, the movement disorder may become more of a problem. Medication for chorea can be considered to provide relief from involuntary movement. Occupational and physical therapists may be needed to help maintain control of voluntary movements and to deal with changes in thinking and reasoning abilities. Diminished speech and difficulty swallowing may require help from a speech & language pathologist. Ordinary activities will become harder to do.
In the Late Stage, the person with HD is totally dependent on others for their care. Choking can become a major concern. Chorea may be severe or it may cease. At this stage, the person with HD can no longer walk and will be unable to speak. However, he or she is generally still able to comprehend language and retains an awareness of family and friends. When a person with HD dies, it is typically from complications of the disease, such as choking or pneumonia and not from the disease itself.
If you have HD in your immediate family and would like more information about your options with regard to HD testing please do not hesitate in calling the South Australian Huntington's Disease Service (SAHDS) run from Flinders Medical Centre. Contact: (08) 8204 4144 and ask to speak with someone from the above service.
This information is to be used as a guide and it is always recommended that you discuss any questions about your condition or treatment with your doctor or other health care professional.