How Huntington's Disease Affects Families Term Paper
- Length: 9 pages
- Subject: Disease
- Type: Term Paper
- Paper: #83682537
Excerpt from Term Paper :
Huntington's disease affects families
What is Huntington's disease, and how does it affect the patient and his family? How does one deal with the patient? Is there any cure for the disease, and what is it? When was the disease discovered? Who discovered it, and how was it discovered? What way is support offered from external sources for the disease, and how can one avail of the support? What, exactly is Huntington's disease? It is a genetic disease that affects the central nervous system, in individuals who are thirty years and above, though it does occur sometimes in people younger than this. When the disease occurs, it occurs as an inherited autosomal dominant condition, and it affects all or most of the family members within the same family. The onset of symptoms and of the rate of the progression of the disease may differ between the different family members, and this is an important fact to remember. The symptoms of Huntington's disease are those of involuntary movements, and a loss in motor control. A change may occur in the very personality of the patient, and some other symptoms may include memory loss, and a decreased mental capacity. The various symptoms in individuals are generally used to properly diagnose the other family members, and then this is used to determine what the diagnosis must be. Genetics of Huntington's disease)
The human body contains about 100 trillion cells, and within each cell is a nucleus. Each nucleus contains 46 chromosomes that are arranged in 23 pairs, and one chromosome of every pair is from one parent, and the other from the other parent. These chromosomes carry the DNA that are tightly coiled within the nucleus, and within this DNA are the genes, literally segments of the DNA, that contain the various instructions that the human body needs in order to make proteins and the various other building blocks of life. Every human being has 23 chromosomes from the mother, and another 23 from the father, and chromosomes are of two types, which are 22 pairs of autosomal chromosomes, and 1 single pair of sex chromosomes, two X chromosomes in the female and an X and a Y in the male. Since Huntington's disease is autosomal dominant, this means that the gene involved is that of an autosomal chromosome and not that of the 23rd pair, that is, the sex chromosome.
Recent research has further revealed the fact that the fourth pair of autosomal chromosomes is in fact responsible for the disease. In the affected person, therefore, one gene of the pair of genes of the fourth autosomal chromosome does not function properly, and this means that it will automatically start to dominate over the properly functioning gene, and since it has nothing to do with the sex chromosome, it can affect both men and women equally, and the affected man would have the same chances of spreading the disease to his children as a female. Therefore, a parent, whether male or female, can pass on the unaffected gene form the pair of affected genes on to his children, and can also pass on the affected one; there is a fifty percent chance of the child inheriting the affected gene from his parent of either sex. However, the age of the onset of the disease, the variation of the symptoms, and the progression of the disease are different from individual to individual. (Genetics of Huntington's disease)
Huntington's disease is the inevitable result of a genetically programmed degeneration of brain cells, also known as neurons, in some particular areas of the human brain. The degeneration causes certain symptoms, and these are uncontrollable movements, degeneration in memory as well as in mental faculties, and also a severe mental disturbance. Since it is through a gene that the disease is spread, the child ahs a fifty percent chance of inheriting it from his parents, of either sex. However, if the child has not inherited the disease, then it means that he will not pass it on to his children, and also to further subsequent generations. If he does inherit it, however, then he will sooner or later develop the dreaded symptoms of the disease, and when one child has inherited the disease, it does not mean that other children of the same parents would also have inherited it; it depends on the gene that has been passed on to all the children of the same family. (NINDS Huntington's Disease Information Page)
Some of the early symptoms of the Huntington's disease are a difficulty in remembering things, and in learning how to drive, severe mood swings, depression, and so on. The disease will make an inevitable progress, until such time as when he will not be able to even feed himself or to swallow by himself. Progression depends on the individual, and the earlier the doctor is able to diagnose the disease, the earlier help can be sought. The doctor would generally advise a genetic test, and then a complete medical history would be asked for, and then the patient would be subjected to a battery of neurological and laboratory tests. After the diagnosis is made, then the patient can start on medication. There are those people who have been suffering from the Huntington's disease, and these people would require a pre-diagnosis for their children. In most cases, however, the disease is not evident in 1 to 3% of individuals who do have a family history of the Huntington's disease. (NINDS Huntington's Disease Information Page)
Experts estimate that one in every 10,000 persons is a sufferer of Huntington's disease, and this comes to about 30,000 people in the United States of America alone. Juvenile Huntington's occurs in about 16% of the cases of the disease. There is no specific population group that is affected with the disease, and there is no specific race or creed or color, and also no specific sex. It affects anyone who has inherited a bad gene from his father or his mother. (Neurology Channel, Huntington's disease) Managing the Huntington's disease requires informed planning and also the knowledge in executing those plans. (The Huntington's disease Lighthouse) Researchers today have been making amazing progress in understanding the reason why it must occur, and the molecular basis behind it. A large number of clinical trials are now being conducted, and drugs and other supplements for the disease are being researched too.
Today, a cocktail of drugs and other modes of treatment are available, and these would supposedly delay the onset of the disease, and also the progression of the disease after its onset, while researchers are finding an actual cure for it. At this point of time, there is absolutely no cure for the Huntington's disease, and S. It is a fatal disease with a slow progression rate, and the patient eventually dies without being fully in possession of his mental faculties and not being able to care for himself. However, despite all the present research being made on the prevention and cure of the disease, there is no medically approved cure for it, and all the various clinical trails are progressing much too slowly, and there are not too many research subjects being used in these clinical trials. The result is that there is not much hope for the numerous families that happen to be afflicted with this horrible disease, and even though the 'proactive' approach is being advocated for these individuals, it does not really offer much. (Your Proactive fight against HD)
The proactive approach involves the research of what the researchers have discovered about the disease and its symptoms and diagnosis and progression and its treatment, and decides for themselves what to choose and what to discard. The individual delves into the huge amount of research material that is available today, and then weighs all the pros and cons, checks on all the various side effects of the drugs that are prescribed for the disease, and then decides on the specific mode of treatment that he wants to follow, with the advice of the physician, of course. (Your Proactive fight against HD)
Huntington's disease is also known as Huntington's chorea, and the word 'chorea' in itself is from the Greek word, 'dance'. The term 'dance' very aptly describes the various uncontrolled movements that the patient who is afflicted with the disease makes, and it was Paracelsus - 1493 to 1541 who initially used the term to describe the involuntary movements of the patient. The same individual described three choreas, and one of them was the 'chorea naturalis', which was described as something in which the patients would only feel an involuntary impulse to stop the inner turmoil that they were feeling, and historians feel that the symptoms describe those of HD accurately. One Thomas Sydenham, in 1624 to 1689, happened to prescribe an extremely thorough treatment foe the disease, which was known as Sydenham Chorea or the 'St. Vitus' Dance' at that time. However, it was only in the…