Huntington’s disease

Huntington’s disease (HD) is an inherited, degenerative brain disorder named after physician George Huntington, who in 1872 first described the ailment. It is also sometimes referred to as Huntington’s chorea, from a Greek word meaning “dance”, which refers to the movement disorder that is a part of the illness. The people affected with HD often exhibit wild and erratic movements. In addition to its physical effects, it also affects one’s cognitive abilities.

HD is a progressive illness. As such, the rate of progression varies. Many people with HD are able to live on their own or with only minor assistance for many years. However, HD eventually causes physical and mental disability requiring significant assistance at home or in a care facility. After 10-20 years of exhibiting the symptoms, usually people can no longer survive, dieing not from the disease itself but rather complications. The disease affects approximately 30,000 people in the United States.

The physical chorea, or sudden movements, that accompany HD usually begin in a person’s 30’s to 40’s but can start as early as age two or as late as age 75. These involuntary movements are generally mild when symptoms first begin to appear but will dramatically increase with most cases as time progresses. The movements usually evolve into obviously abnormal movements that are difficult to control. Other symptoms can include involuntary twitching, clumsiness, slurred speech, difficulty swallowing and difficulty walking. Medication may slow the onset of these symptoms, however, they are powerless to stop it.

On the genetic side of the disease, it is an autosomal dominant condition. Although every cell of the body has two copies of every gene, only one abnormal or expanded gene is needed to cause HD. If a child’s parent has HD or merely caries the gene, the child will therefore have a 50-50 risk of getting the disease. They also have a 50-50 chance of passing it down to their children. As people who exhibit symptoms are generally well into their childbearing years, it is common for the trait to be passed down from parent to child. With today’s advancement in genetic screening, it is possible to rule out the embryos containing the mutated gene through selective in vitro fertilization.

This genetic screening is done through the use of DNA sequencing. The gene was mapped to chromosome 4p16.3 in 1983.1 Based on the repeats of the CAG pattern, we are able to determine whether a person is at risk for Huntington’s disease or not. Anyone with less than 34 CAG repeats is generally viewed as normal and unlikely to inherit the disease. Anyone with 39 or more repeats is viewed as likely to inherit the disease. In between these numbers is a buffer zone of which only inconclusive is available and so this is seen as in neutral test result. The appearance of Huntington’s Disease may or may not occur, there is little way to be sure except wait. People with repeats numbering higher than 55 are likely to develop the disease as a child.

Section II: The ethical issues that come up when dealing with this disease are complex and unfortunate. Issues include: effects on family and friends, effect results will emotionally have for both you and the above group, how results will affect your job, possible unforeseen results of the test (i.e. paternity) and most importantly how you will deal with getting these results if they turn out to be positive for HD. In order to deal with these issues, it is important that a number of steps are taken. First, list the relevant facts then identify all the stakeholders then identify how or why this would influence them as well as list solutions. The final step is to evaluate all of the above and based on that choose a solution.

Section III: In the last step of this project each of us went to see a genetic counselor. For my counseling session, I met with Ms Jarvis. After reading over the consent form and discussing all of the issues aforementioned, I decided that I needed to get tested. As my character is Paul, I have a family and responsibilities to which I must attend. Therefore I strongly feel that I must be tested so that I can be sure to prepare for whatever issues may come up due to the disease.

Were I to have the disease I would require expensive medical treatment and would also no longer be eligible for cheap insurance. Moreover, it might be better if I were to legally divorce my wife in order to remove her from my medical bills. To not get tested would be irresponsible as I could possibly put all of these problems on my relatives’ backs. I decided that I would treat an inconclusive result as a positive and would go ahead with all of my plans to prepare for the disease. However, if I did have the disease, my plans do not include giving up. I would continue to live and work as there is nothing else to do; any other course of action would be cowardly and most of all a waste of time.

Some pertinent questions: 1. I feel that if the person’s life were to be changed in any way other than emotionally, it would certainly be a good idea to get tested. If getting tested would only scare or relieve someone, I feel it would be useless. However, if insurance or helping their friends and or family to deal with the problem depends on testing, a person would benefit greatly to testing.

2. The aforementioned issues relating to family, friends, personal well-being and responsibilities are the ethical issues that make up this problem. 3. What make these issues ethical is that it is an internal conflict and as such moral. A moral decision almost always requires ethics. 4. A parent should have little to no influence over the testing of the person assuming that they are an adult. However, as a spouse is so closely connected and intertwined to the subject, it is impossible to remove the spouse’s opinions from the issue. In a perfect situation, a spouse would be happy with the subject’s decision.

5. If I knew that I would get Huntington’s disease, short of getting insurance and making sure my family would be able to survive without me, I would not change my life in any way. The only change that might be acceptable would be to spend more time with my family as well as try and prepare them for the emotional loss. 6. The individual must remember that they are closely connected to their spouse and family. To ignore their opinions completely on any issue is questionable, this case notwithstanding. Ideally, however, the individual should be able to decide independently.

7. Assuming that family members have not specifically requested not to be informed, it is definitely a responsibility to inform relatives. To not let them know of such a serious problem would be wildly inconsiderate. 8. Moral values should be applied to technology always. This broad question can spread between weapons and genetic engineering to remove myopia. As with weapons, once used, their after effects must be dealt with in the case of genetic engineering. It would be irresponsible to not worry about the possible issues that would result in the use of any technology.

9. The decision should be a moral and hopefully democratic decision. Nevertheless, realistically it will be the people with either influence or money. 10. We should use technology to improve people. It is cruel to let some person have a debilitating disorder when it could have easily been fixed. What separates this from eugenics is that it would be voluntary. 11. Developing rules and guidelines is a good idea, although impractical. Whatever guidelines we come up with will be skirted. However, they should still be attempted. Our current non-discriminatory laws should be used to make up the new laws with the same ideas behind them. While the discrimination would be different, its effects and ways to treat it should stay the same.

12. The person with the genetic material, namely the person, should own their personal information. Just as your finger or kidney should be your property, so too should genetic information. 13. Under no circumstances should a person not be given information about themselves. New types of psychology may need to be developed in order to deal with the results of such information, but nevertheless people should have access to it. It is their body.

Huntington’s disease is an inherited degenerative neurological disease that leads to dementia. It is a disorder of the basal ganglia causing progressive motor incoordination, abnormal involuntary movements (chorea), and intellectual decline. Clinical features and Symptoms: Huntington’s disease usually causes movement, …

In 1993 researchers discovered the gene that causes Huntington’s disease. (Huntington’s disease Society of America, 8/27) Huntington’s disease is a disease which progressively degenerates cells in the brain slowly over time. Since the nerve cells in the brain are slowly …

In 1993 researchers discovered the gene that causes Huntington’s disease. (Huntington’s disease Society of America, 8/27) Huntington’s disease is a disease which progressively degenerates cells in the brain slowly over time. Since the nerve cells in the brain are slowly …

In one to three percent of Huntingtons Disease patients, have no family history of HD (HuntingtonsDisease1). Huntington’s disease is a very inconvenient and frustrating disease, scientists are trying to create treatments and a cure for Huntington’s disease. The one problem …

Email this page to a friendShare on facebookShare on twitterBookmark & SharePrinter-friendly version Huntington disease is a disorder in which nerve cells in certain parts of the brain waste away, or degenerate. The disease is passed down through families. Causes …

In 1993 researchers discovered the gene that causes Huntington’s disease. (Huntington’s disease Society of America, 8/27) Huntington’s disease is a disease which progressively degenerates cells in the brain slowly over time. Since the nerve cells in the brain are slowly …

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