Medical Case Study Huntingtons Disease

Document Type:Thesis

Subject Area:Management

Document 1

This places a child at 50% chance of inheriting the disease. Williams, having lost his job has been showing symptoms of depression. This was followed by involuntary movements of the fingers as well as restlessness. Following these symptoms, Williams's guess of developing the disease is confirmed by a psychiatrist. Since Huntington’s disease is a family disease, James, who is Matthew’s son has been subjected to diagnosis. However, he has no background knowledge of the disease. He is also preoccupied with family matters having married recently. Having shown no signs of the disease, James has to carry out DNA tests. This will help determine whether he has the mutated gene because it would affect him later in his life. The better part of Matthew's family goes to the clinic for diagnosis. It is vital to note that this family has been rocked by significant problems. Matthew's father passed away at a construction site while his grandmother has been subjected to institutional care due to her being affected by Dementia. Besides, her brother and sister also suffered from a similar disease. Besides, her sister in Australia has also shown signs of Huntington's disease following involuntary finger movements. It would be vital for the disease to be confirmed through experiments. This called for blood sampling. Even though the psychiatrist is confident of Matthew's disease, his DNA has to be sampled. James and his wife ponder on taking the tests as it is becoming evident that James has higher chances of contracting the disease.

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Unfortunately, James chooses not to go ahead with the test. However, the counsellor promised to provide support to the family in whichever way possible. A study has it that all human beings have two copies of Huntingtin gene. This is a code for the protein, huntingtin. Trinucleotide is the repeated part of this gene. It has the tendency of varying in length between individuals. Besides, the length is likely to change between generations. The repeated form of these bases are the ones that form trinucleotide repeat. In addition, CAG is a genetic code for amino acid glutamine. Therefore, many of these will form a series of glutamine popularly known as polyglutamine tract or simply polyQ tract. Normally, human beings have fewer than 36 repeated glutamines in the polyQ region. This will lead to increased production of huntingtin proteins.

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The study has it that there exists an unequal inverse relationship the number of CAG and age at the onset. Even though the correlation of age at onset and repeated size may present a strong outcome, this can be ineffective at the onset age. Shortcomings of these predictions can be identified by examining onset age range for people with a specific number of repeats. There have been familiar claims of aggregation for age at the onset. Onset ages have been adjusted to match the size of Huntington disease repeat mutation. People who have been identified as having the risk of contracting the disease are advised to seek presymptomatic testing. This will play a vital role in ensuring that they make an appropriate decision on marriage, career as well as procreation. Nevertheless, this genetic test may come along with emotional effects as the impact can be difficult to fathom.

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This can be controlled by proper counselling services aimed at assisting the people at risk of contracting the disease. They will be able to consider the risks and benefits that may be as a result undertaking the tests. Furthermore, when young adults undergo these tests, they may develop unprecedented disappointments as well as a long period of adjustment. The second scenario entails the situation in which a married person contemplates of siring kids. A positive result concerning the test can implicate on these individuals. They may be prompted to adopt other methods of raising children. This may include adoption as well as performing a prenatal testing (Kuliev, and Verlinsky, 2005). On the other hand, this test will be vital to James who has recently married. Evidently, James and the wife may have been contemplating on having kids.

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In case of a positive gene-test result, they may revert to other methods of getting children such as through artificial insemination and adoption. DNA change of Matthew from the analysis Huntington's disease affects the central nervous system. This means that it is an autosomal disease and not sex chromosomal. This will help in reducing the involuntary finger movements. He should also be engaged in therapeutics which involve physical therapies as well as counselling. Recent developments in treatment and therapeutics of Huntington’s disease The current therapies have been directed towards the treatment of symptoms. This is because there has not been the development of the therapies aimed at modifying the disease. The involuntary movement has been prescribed for drugs such as tetrabenazine. c) Aggression Victims suffering from Huntington's disease are likely to develop temperament that is destructive while others may be able to maintain an even temper.

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Ethical issues (a) Right to reproduce Huntington’s disease is transmitted through genes. This does not deny those who would wish to reproduce that chance. It is important to note that the victims are the people who should decide on whether to reproduce or not (Chapman, 1990). b) Test or Not to test Carrying out a genetic test may have an enormous effect on the victims. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.  Clinical genetics, 70(4), pp. Kuliev, A. and Verlinsky, Y. Preimplantation diagnosis: a realistic option for assisted reproduction and genetic practice. A. Predictive testing for adult-onset genetic disease: ethical and legal implications of the use of linkage analysis for Huntington disease.  American journal of human genetics, 47(1), p. Sturrock, A. and Leavitt, B.

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