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Huntington disease conclusion
Huntington disease conclusion
Huntington disease conclusion
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- Huntington’s disease is caused by an abnormal dominant gene. Also called Huntington’s chorea, it is a complex disorder that affects a person capability to feel, think and move. The symptoms of Huntington’s disease consist of mood swings, irritability, depression, and anger. These symptoms are likely to worsen and the disease a lot of times runs in the family. If people have at least one parent with Huntington’s disease, the chances of them inheriting it are 50-50 chance. There is also a 50-50 chance that, that same person could pass the faulty gene on to their future child. This pattern of inheritance is called "autosomal dominant". The disease could also affect a person’s judgment and other mental functions. In some cases the person could …show more content…
A lot depends on whether the person wanting children knows what their gene status is or not. So it’s good for couples to be tested before they have children in order to find out if there even is a risk of passing the disease on to their children. Like it was mentioned a person that has a Huntington's disease affected parent has a 50% risk of having inherited the Huntington's disease gene. As a result each child of that person has a 25% chance of inheriting the condition. But that '25%' only applies while the person is untested. If a person has been tested and the results came back negative that means that they will not get Huntington's disease and will not pass it onto their children. However, if a person has tested positive, that means that at some point in their life they will develop Huntington’s disease, and each child will have a 50% risk of inheriting the condition. If the women is 10-15 weeks pregnant with child then the couple should try prenatal testing. Prenatal testing involve testing a fetus to see if it has the expanded gene that causes Huntington's disease. It is only usually done when a couple is certain that they'll terminate the pregnancy if the genetic test is positive. That decision would have to be made beforehand. That's because testing a pregnancy, but not going ahead with a termination if the result came back positive, would take …show more content…
Down syndrome symptoms vary from person to person, and there are different types of symptoms. There are Physical symptoms which include: Decreased or poor muscle tone, Short neck, with excess skin at the back of the neck, Small head, ears, and mouth. And there are Intellectual and Developmental Symptoms which is cognitive damage, problems with thinking and learning is common in people that have Down syndrome. Other cognitive problems may include short attention span, poor judgment, impulsive behavior and slow learning.
- Down syndrome can be caused by a random error in cell division which results in a presence of an extra copy of chromosome 21. This type of error is called nondisjunction. Usually when one cell divides in two, pairs of chromosomes are split so that one of the pair goes to one cell, and the other from the pair goes to the other cell. In nondisjunction something happens that makes both chromosomes from one pair go into one cell and no chromosome from that pair goes into the other cell. A lot of the time, the error occurs at random during the formation of an egg or sperm. After a lot of research is has been discovered that in more than 90% of cases, the extra copy of chromosome 21 comes from the mother in the
kcals. At the time of admission there were essentially no differences in the type of
In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to genetic testing, and the pros and cons of genetic testing.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Having Down syndrome is like being born normal. I am just like you, and you are just like me. We are all born in different ways, that is the way I can describe it. I have a normal life"(Burke, C., n.d.). Where special education is concerned, one must always remember that exceptional learners are different, not less.
Prenatal genetic testing has become one of the largest and most influencial advances in clinical genetics today. "Of the over 4000 genetic traits which have been distinguished to date, more than 300 are identifiable via prenatal genetic testing" (Morris, 1993). Every year, thousands of couples are subjecting their lives to the results of prenatal tests. For some, the information may be a sigh of relief, for others a tear of terror. The psychological effects following a prenatal test can be devastating, leaving the woman with a decision which will affect the rest of her life.
For this experiment they wanted to exam how Huntington diseased muscle affects the contraction control in the membrane. They first measured the action potentials in the diseased mice and compared that to the wild type mice. In the R6/2 mice they noticed a significant lengthening (almost double) in the repolarization phase that was not present in the wild type mice. The fibers of the diseased mice were also more sensitive to current stimulation that was needed to produce an action potential versus the control mice. A spontaneous action potential occurred in the diseased mice as well after the depolarization. They hypothesized that the repolarization, hyperexcitability, and spontaneous action
A devastating, yet rare, disease that strikes fear in families and even more so in the person that is diagnosed with this debilitating disease. Huntington’s disease can affects both mental and physical parts of the body, with only medication to slow the course of this disease, a certain level of coping and adjustment is necessary.
Huntington’s disease is a progressive neurological disorder that is caused by an autosomal dominant mutation in the HTT gene. There will be no change in the allele frequencies because this treatment only has an effect on the phenotype, not the genotype; it does not
(2) Even people that don 't have any disease could be more prepare, and prevent it from developing in the future by being more aware thanks to the genetic test provided. Genetic screening is another valuable technology that could help a parent keep track of their baby 's health by examining their chromosomes. Genetic testing and screening could impact the life all patients in a positive way, therefore the opposing side should be grateful, and take advantage of this opportunities provided. For example, a person goes to genetically test themselves in a clinic, and they come to find out that they could potentially develop heart problems in the future. Now they can be more aware, and prepared. They could in many different ways like changing their diet or exercising more so they could better protect their heart, and decrease the chances of having the heart problems, like they where presented in the genetic test. What if the person didn 't know they had a chance to have problems? and start eating unhealthy foods that could likely speed up their changes of developing a heart disease. My point is that the same thing goes to those parent who want to get a update of their unborn child 's health. Many healthy mother don 't really expect that their pregnancy will bring some implications, but in
Imagine coming into 4th grade on the first day of school and having the other children look at you funny and not understanding why. Nothing is more devastating than when you are excited to make friends and interact with the other children, but when the teacher hands out assignments and tells everyone to get in small groups, and you are excluded and have to work by yourself or with a teaching assistant. This is what it is like to be a 4th grader with Down syndrome.
Huntington’s disease is an inherited condition in which nerve cells in the brain break down over time. No cure exists for the disease, but drugs, physical therapy, and talk therapy can help manage some symptoms. Testing is done by blood sample. The genetic test analyzes DNA for the HD mutation by counting the number of repeats the Huntington gene made. Part of the gene repeats itself over and over again like a stutter. The results are near 100% accurate. The disease appears around age 40.
I looked up Huntington’s Disease to find out more about the disorder. There is no real treatment for the disorder, so I do not see any benefit of knowing that you are going to develop the disease. I feel the distress of knowing that a gene is present and the disease is going to come in time would be worse than the symptoms starting to manifest themselves. The early symptoms can develop any time, but in most cases, they develop in between the age range of 30 – 50 years of age. The initial signs and symptoms are very subtle causing problems with coordination, involuntary movement, and memory. The person affected may develop depression or irritable moods. In the early stages, there are some medications that can help with those symptoms.
HD is an autosomal dominant disease so if one of your parents have it, then you have a fifty percent change of getting the gene. If you do get the gene then your children are equally as likely to get it, assuming your significant other doesn’t have the gene also. If you don’t get the gene from your parents, however; then you can’t pass it on. Since it is an autosomal disease you will either get it or not, you can’t be a carrier. As the gene is passed down, the number of repeats gets larger. The larger the number of repeats, the higher your chance of developing symptoms at a younger age and the more severely you will be affected. So the more the disease is passed on, the younger symptoms will develop. There are two forms of Huntington’s disease; the first
In some families there is an abnormal copy of the gene and that gets passed to their children. If someone has a parent with Huntington’s disease, then they have a fifty percent chance of having the gene and developing the disease. If the parents don’t have the abnormal HD gene, then they cannot get it and pass it on to their children. Men and woman are equally able to inherit the abnormal gene. It is not more common in woman or men. Once the abnormal gene is in the family it does not skip generations. The gene defect involves extra of one specific chemical code in a small section of chromosome four. The normal huntingtin gene includes seventeen to twenty repetitions of the code. This defect causes forty or more repeats. There is a genetic test to measure the number of repeats in the protein
Huntington’s disease (HD) is an inherited disorder that causes degeneration of neurons in regions of the brain that control motor functions and cognition (Ghosh, 2015). The disease was formally described for the first time in 1872 by George Huntington. In his essay, “On Chorea”, Huntington incorporated the medical records of the patients treated previously by his father and grandfather. He noted the hereditary transmission of chorea, its gradual onset and tendency of affected patients to insanity and suicide. Since the original discovery the name has changed from Huntington’s chorea to Huntington’s disease to acknowledge the multiple non-motor symptoms faced by patients (Rüb, 2015). The clinical features that Huntington observed remain true