Huntington’s disease

Huntington’s disease is a hereditary neurological disorder of the central nervous system. It will eventually cause a progressive degeneration of the cells in the brain, which is known to impair your ability to think, talk, walk and reason. The disease was first described by the American doctor, George Huntingdon in 1872. He actually studied a family in Long Island who were affected by the condition.

The symptoms of Huntington’s disease will develop gradually over a period of months or years. However they generally appear between the ages of approximately 30 and 50, although up to 5% of Huntington’s disease cases become apparent before the age of 20. The early onset of Huntington’s disease is often referred to as juvenile onset of Huntington’s disease. This is typically inherited from the father. The initial symptoms of Huntington’s disease will be memory loss, changes in personality and mood or extreme confusion. This can, unfortunately, lead to some very aggressive and antisocial behavior. You may also find that you are unable to control your muscle movements which may lead to clumsiness and rigidity.

As Huntington’s disease progresses symptoms such as dementia, or a loss of rational thought, poor concentration levels, involuntary movements, weight loss, depression and anxiety, seizures and difficulties with speaking and swallowing, can also occur. As this disease will often progress extremely slowly, an infected person may well live for up to 15 to 20 years after their initial diagnosis.

Huntington’s disease is mainly caused by a single defective gene on chromosome 4. This, in turn, will lead to damage of the nerve cells in certain areas of the brain and this will start the onset of the many physical, emotional and mental changes. Unfortunately by the time the initial symptoms appear, a person may well have passed on the gene to their children. If you had a parent who suffered from Huntington’s disease, you have a 50% chance of inheriting the gene. Every single person who inherits the specific gene will develop Huntington’s disease at some stage in their life. 3% of cases of Huntington’s disease are found in people who have no family history and this is typically caused by a new mutation of the genes.

Huntington’s disease and the actual gene are typically detected via a blood test. This is only available to people aged over 18 and before the symptoms begin. The blood test will allow you to determine whether you have a faulty gene and is therefore vital in your planning around this disease. As there is no specific cure for Huntington’s disease, many people decide not to take the test and live with the consequences. One of the main reasons for this is that people believe the condition may well lead to certain financial problems or difficulties such as difficulty getting a mortgage or insurance.

As mentioned, there is no cure for Huntington’s disease, but there are certain supportive care activities for many of the symptoms. There are many drugs that are able to relieve the symptoms of involuntary movements, depression and mood swings. People who suffer from speech or swallowing problems may choose to take some form of speech therapy. You can also follow a high calorie diet to help maintain your weight and, once again, this can help to improve the symptoms of involuntary movement and behavioral problems.

There are also certain cognitive changes that are a result of Huntington’s disease and these include a loss of enthusiasm, initiative and organizational skills. In the latter stages of Huntington’s disease, the majority of patients will require constant nursing care and it is also extremely important that there is support for the carers as well. Death will often come about due to a secondary illness such as pneumonia.

There have been numerous medical studies and extensive research carried out on possible treatments for Huntington’s disease. One possible technique is to transplant foetal brain cells, which have often allowed for the repair of rejuvenation of the damaged areas of the brain. Recent studies have shown that one of the body’s naturally occurring proteins may be the cause of some of the disruption that occurs in the brain by those who are affected by the disease. It is now known that these effects can be modified by using certain drugs that are currently used to help cancer patients. However the results from this study may still take many years before they are developed into an effective treatment.

Any form of treatment will not actually slow the progression of Huntington’s disease, but they are able to make you feel far more comfortable. Medical statistics show that at this moment in time about 1 in every 30,000 people has Huntington’s disease in the United States.

Last updated on Feb 6th, 2011 and filed under Neurological Disorders. Both comments and pings are currently closed.

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