What is Huntington's Disease?
Introduction
Huntington's disease (HD) is an inherited disease affecting areas in the brain which control, movement thinking and emotion. It has a slow progression, and symptoms gradually worsen over time.
While there is no cure for HD at this time there are medications and therapies that may alleviate some of the more common symptoms of the disease.
One of the best ways to deal with anxiety or fear is to be informed. It is the aim of this website to provide information about HD and where you can go to access help and support.
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 50yrs 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 18yrs or over to undergo predictive testing for HD.
The greatest cause for optimism is the current research into HD. Organizations 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 HWA with the aim of increasing public and professional awareness about the disease.
Signs and Symptoms
Symptoms can appear at any age with the average onset age between 30 and 50 years. Physical symptoms are usually the first to cause problems and to be noticed, but at this point they are commonly accompanied by unrecognized cognitive and emotional ones.
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
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.
Middle Stage HD
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.
Late Stage HD
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.
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.