Understanding Huntingtons Disease

Huntingtons disease or Huntingtons chorea is a genetic disorder that causes progressive breakdown of the nerves in the brain affecting muscle coordination and eventually dementia and decline in cognitive function. It is more common in Western Europe and less in Asia and Africa. Huntingtons disease usually occurs between ages 35 to 44, but it can also occur during any age.

HD is an inherited disease, caused by a dominant mutation of the gene called Huntingtin. People are born with this defective gene but the symptoms do not usually appear until they reach middle age. When one of your parents is suffering from Huntingtons disease, there is a 50% chance that you will also have it. If both parents have HD, then all their children will also be affected.

The symptoms of Huntingtons disease vary for each individual. During the early stages, subtle changes will be seen in a person’s personality, physical skills and cognition. The initial symptoms are uncontrolled movements of the feet, face, fingers and trunk. These movements are called chorea, which will become worse when you are feeling anxious. There will also be mild clumsiness and problems with maintaining coordination and balance. These will worsen within three years or even earlier depending on the person. Other psychomotor functions will also be impaired and will become more pronounced as the disease progresses. Abnormal facial expressions, difficulty in chewing, speaking and swallowing, sleep disturbances and seizures are also common symptoms of Huntingtons disease.

Aside from the motor function, Huntingtons disorder also affects the cognitive ability of a person. Executive functions are the ones that are especially affected which include abstract thinking, cognitive flexibility, planning and initiating appropriate actions. Later on, the memory will be affected. There will be short-term and long-term memory loss, as well as deficits in procedural and working memory. Over time, these cognitive disabilities will become worse which leads to dementia or the serious loss of cognitive ability.

There are also neuropsychiatric signs and symptoms of Huntingtons disease. Some of them are anxiety and depression, compulsive behavior, aggression and blunted effect or the reduced display of emotions. People with Huntingtons disease also have difficulties in recognizing certain negative emotions from other people. When HD patients are unable to cope well with their disorder, suicide attempts are very common.

For the early management of Huntingtons chorea, diagnosis should be made as early as possible. In people who have higher chances of inheriting this disease are encouraged to have genetic testing. If this has a positive result, it does not necessarily mean that you will have HD but it should encourage you to be cautious enough to observe if you have the signs and symptoms. If the genetic testing result is negative, then you will not develop Huntingtons disease.

As of today, there is still no cure for Huntingtons disease. The treatment is then focused on alleviating the signs and symptoms that are being manifested. The goal of treatment is to improve the quality of life for the person who is suffering from HD. Because it is a progressive disease with no treatment, support systems are necessary so that coping is possible.