Cardiovascular

What Is Huntington's Disease? What Causes Huntington's Disease?

Huntington"s disease is an incurable, hereditary brain disorder. It is a devastating brain disorder 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. It 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. See our specialized news channels Huntington"s Disease news Neurology news Psychology / Psychiatry news Caregivers / Homecare news Anxiety / Stress news Depression news Mental health news 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. What are the signs symptoms of Huntington"s disease? Sings 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. A sign is what the doctor can detect, such as involuntary movements, or a rash. A symptom is what the patient tells the doctor, such as dizziness, or insomnia. How sings 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. Possible early signs and symptoms 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 *Clumsiness *Stumbling *Some slight signs of lack of emotion *Lack of focus, slight concentration problems *Lapses in short-term memory *Depression *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. As Huntington"s disease progresses As the disease progresses problems will become more severe. These will include: Physical changes not including uncontrollable movements *Difficulty in speech - individuals with Huntington"s have problems putting thoughts into words and slur their speech *Weight loss - often a cause of complications because the patient becomes weaker. Although most people with HD generally have good appetites, the muscles in the mouth and the diaphragm may not work properly, making the whole experience of eating seem cumbersome, frustrating and messy. *Feeding problems - as coordination gets worse the person with HD may spill and drop food. *Swallowing difficulties get gradually worse - chocking on food and drink. Choking tends to occur more when the liquid is thin, like water. During the later stages choking becomes a major concern. Uncontrollable movements *Uncontrollable movements of the face. *Jerking of parts of the face and the head. *Flicking or fidgety movements of the arms, legs and body. *Lurching and stumbling - caused when movements move from one area of the body to another. *As HD progresses the uncontrollable movements occur more often and with usually with more intensity. *Eventually the movements may become slower as the muscles become more rigid. Emotional changes - sometimes changes may alternate sporadically *Aggression. *Anger. *Antisocial behavior. *Apathy. *Depression. *Excitement. *Frustration. *Lack of emotion becomes more apparent. *Moodiness. *Stubbornness. Cognitive changes *Loss of initiative. *Loss of organizational skills. *Disorientation. *Problems focusing. *Problems focusing on more than one thing at a time. Some patients and carers comment that the psychological changes are more of a problem than the physical ones. Although some psychological changes are caused by the disease, frustration at not being able to do things which used to be easy can become depressing. In the later stages the person will require total round-the-clock nursing care. The patient will not be able to walk or talk, although he/she will usually understand most of what is being said and will be aware of friends and family members. In the majority of cases people die from a complication of Huntington"s disease, such as pneumonia, choking, or another infection, rather than Huntington"s itself. Weight loss can bring with it worsening symptoms, as well as weakening the patient"s immune system, which makes him/her more vulnerable to infections and other complications. Throughout all the stages of Huntington"s disease it is important to adjust the patient"s diet to ensure adequate food intake. Genetic testing As Huntington"s disease is inherited dominantly, a child of a parent who has/had the disease has a 50% chance of inheriting the defective gene. Often the disease affects several generations. Genetic testing for HD became possible in 1993 when the first non-sex-linked dominant disease gene was found. If you have a family history of Huntington"s you can discuss with your doctor about genetic testing - it will determine whether or not you carry the defective gene. Some people find the uncertainty of not knowing stressful and unpleasant. On the other hand, finding out they have the gene and will develop Huntington"s is distressing too. If you are not sure what to you, you should consider talking to a genetic counselor who will help you think the whole thing through. In the UK fewer than 1 in 5 people at risk of having the faulty gene choose to undergo genetic testing. A study published in the British Medical Journal reported that individuals with a family history of genetic disease are frequently discriminated by their relatives, friends and also by insurance companies. What causes Huntington"s diseases? Genes and chromosomes Genes are made up of DNA. They are packaged into strands we call chromosomes. Genes are the instructions for making any living thing: humans, bacteria, plants, animals, etc. Humans have 23 pairs of chromosomes - 46 in all. The faulty gene that causes Huntington"s disease is found on chromosome number 4. A normal copy of the gene produces huntingtin, a protein. The faulty gene is larger than it should be and produces a larger form of huntingtin. Some of our brain cells are sensitive to the larger form of huntingtin - it undermines their function and eventually destroys them. Scientists are not sure exactly how this happens. Johns Hopkins brain scientists have figured out why a faulty protein accumulates in cells everywhere in the bodies of people with Huntington"s disease, but only kills cells in the part of the brain that controls movement, causing negligible damage to tissues elsewhere. The answer lies in one tiny protein called "Rhes" that"s found only in the part of the brain that controls movement. A person with the Huntington"s gene has one good copy of the gene and one faulty copy of the gene. His/her child will inherit either the good copy or the faulty one. The child who inherits the good copy will not develop Huntington"s disease, while the child who inherits the faulty copy will. The child has a 50% chance of inheriting the faulty gene. If the child inherits the faulty gene, each of his/her children will have a 50%

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