Huntington's disease is an incurable, hereditary brain disorder. It is a devastating disease for which there is no currently "effective" treatment.
Nerve cells become damaged, causing various parts of the brain to deteriorate. The disease affects movement, behavior and cognition - the affected individuals' abilities to walk, think, reason and talk are gradually eroded to such a point that they eventually become entirely reliant on other people for their care.
Huntington's disease has a major emotional, mental, social and economic impact on the lives of patients, as well as their families.
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Here are some key points about Huntington's disease. More detail and supporting information is in the main article.
- Huntington's disease is, to date, incurable.
- Huntington's disease attacks nerve cells gradually over time.
- The condition affects around 1 in 10,000 Americans.
- The first signs normally present between the ages of 35 and 55.
- Early symptoms may include mood swings, clumsiness and peculiar behavior.
- During the later stages of the disease, choking becomes a major concern.
- Huntington's disease is inherited dominantly, and genetic testing has been possible since 1993.
- The disease is caused by a faulty gene that makes an oversized version of the protein huntingtin.
- Huntingtin interacts with a protein called Rhes in the areas of the brain involved in motor control.
- Current medications only attack the symptoms rather than the underlying issues in Huntington's disease.
What is Huntington's disease?
Huntington's affects around 30,000 Americans.
The condition used to be called Huntington's Chorea, because the involuntary movements made by patients with the disease can appear to be like jerky dancing - "chorea" comes from the Greek word choreia meaning "dancing". The English word "choreography" also comes from the Greek word choreia.
Huntington's disease (HD) affects both men and women equally and more commonly appears during middle-age. According to the Department of Health, UK, there are about 6,000 people in the UK with the disease. The Huntington's Society of America says 1 in every 10,000 Americans has the disease - 30,000 people. It is estimated that at least 150,000 other Americans have a 50% risk of developing HD, while thousands of their relatives carry a degree of risk too.
Prevalence of the disease varies according to ethnic ancestry - people with Asian or African inheritance have a 1 in 1,000,000 risk of becoming affected, while the risk for Caucasian people is 70 to 100 times higher.
The J. David Gladstone Institutes, Taube Philanthropies and the Koret Foundation initiated a groundbreaking research program aimed at preventing, treating, or curing Huntington's disease by the year 2020.
Symptoms of Huntington's disease
Signs and symptoms can appear at any age, but most commonly do so between the ages of 35 and 55 years. They will progressively worsen for ten to twenty years until the patient ultimately dies.
How signs and symptoms evolve and which ones appear first may vary from person to person. Some may develop depression before suffering problems with motor skills.
Initial symptoms may initially be either ignored or attributed to something else for some time by most patients and their family and friends. This is more likely if people are not aware that Huntington's disease exists in their family. Symptoms may initially include mood swings and peculiar behavior.
Subtle signs can help doctors predict that a person will develop Huntington's disease in the next few years, scientists at the University of Iowa revealed.
It is not uncommon for some people to deny they have the condition and take a long time to come to terms with the diagnosis.
Below is a list of early signs and symptoms which may be relevant in some cases. It is important to remember these may vary depending on the individual:
- Slight uncontrollable movements
- Some slight signs of lack of emotion
- Lack of focus, slight concentration problems
- Lapses in short-term memory
- Mood changes - this may include antisocial behavior and aggression.
Distressing for those who don't know - if family and friends don't know what is going on, the impact on relationships and family life can be demoralizing, distressing and sometimes shocking. Unexpected temper outbursts directed at a partner from somebody who has hitherto been regarded as warm, caring and loving is frightening and confusing.
Friends and family may get the impression that an individual with HD is lazy - but it is not the case. HD typically affects a person's personality in such a way that they come over as unmotivated, unfocussed, lethargic, and lacking in initiative.
Unnecessarily worrying for those who do know - those who do know they are at risk may become concerned when they wonder whether an HD sign has emerged. Examples may include dropping something, suddenly becoming angry, forgetting somebody's name, or stumbling. These "signs" are things all of us do from time to time.
In both cases, whether you are aware of the risk, or have no idea what is happening, talking to your GP (general practitioner, primary care physician) is advisable. The GP may refer the patient to a neurologist.
On the next page, we look at the progression, genetic testing and causes of Huntington's disease.