Huntington's disease (HD) was the first autonomic dominant disorder for which genetic prediction became possible" (Harper, et al., 2000, Journal of Medical Genetics, p. 567). HD is a disease that occurs due to an inherited disorder leading to the death of brain cells. A diagnosis of HD is accomplished through genetic testing which can be implemented at any age regardless of whether the symptoms manifest or not. Although, the specific symptoms vary between people, nevertheless, symptoms can start with people between 35 and 45 years of age and can also start in some individuals at even anearlier age. The disease may affect successive generations if health interventions are not implemented (Mandel, 2016).
Additionally, "the cause of HD is due to a dominant mutation of autosomal form of the gene called Huntington. This shows that a child born by an affected person has a 50% chance of developing or inheriting the disease" (Liou, 2010, paragraph 2). Typically, "Huntington genes manifest from genetic information. Moreover, the expansion of cytosine-adenine-guanine in Huntington protein leads to an abnormal protein that gradually damages the brain through an unknown mechanism" (Liou, 2010, paragraph 10).
Case Presentation
Marilyn is a forty-five-year-old nurse, whose father was diagnosed with HD at the age of forty-two. She had been having some subtle difficulty withmental abilities and mood. However, she did not think anything about these issues until she started having problems with jerky movements while writing. Thus, realizing that HD is a hereditary genetic disorder, and "if a parent has the gene, each son or daughter has a one in two (50/50) chance of inheriting HD" (Liou, 2010, paragraph 2). Marilyn became concerned about the possibility of a familial connection to HD through her father.Now, Marilyn must find a way to discuss this with her daughter.
Incidence and Prevalence
A review of HD shows that its prevalence varies across the world. There is a very low prevalence of HD among black people in South Africa with 0.5 per 100,000 people and 1.84 per 100,000 among people in Zimbabwe. Nonetheless, the prevalence of HD is higher among people in North America with 6.37 per 100,000 among African-American and 4.9% among whites. However, a low percentage of HD prevalence has been recorded in Japan, Hong Kong, and Taiwan due to an inadequate diagnosis of the disease. (Rawlins, Wexler, Wexler et al. 2016).
For example, existing prevalence for HD in Asia is 0.42 per 100,000. In Western Europe excluding the UK, the prevalence rate is 0.53 per 100,000. However, the prevalence rate is high among Caucasian populations in the UK, and Australia, which are 9.71 per 100,000. (Rawlins, Wexler, Wexler et al. 2016). Typically, a reduced mutation among East Asian people has been responsible for their lower prevalence rate. Yet, the prevalence rate has increased by more than two folds among people in the United Kingdom between 1990 and 2010. Moreover, there is 15-20% inHD prevalence rate in Australia, North America, and Western Europe between 1930 and 2012. (Rawlins, Wexler, Wexler et al. 2016).
A rise in the HD prevalence in North America, Australia, Western Europe and the United Kingdom has been attributed to high rates of diagnosis since physicians have a better knowledge of the disease leading to an increased rate of diagnosis among older adults. Pringsheim, Wiltshire, Day, Dykeman, Steeves, and Jette (2012) support the argument of the previous author by pointing out that HD is low among Asians compared to people in North America and Western Europe where there is a high prevalence of HD. Furthermore, "although there is an unusually rare juvenile form of the condition, HD usually presents in early middle life with abnormal movements (particularly chorea) together with psychiatric symptoms including psychosis, depression, and obsessive-compulsive disorder together with progressive cognitive impairment." (Rawlins, Wexler, Wexler. et al. 2016 p 144).
Reasons behind the FDA Regulations for Pharmaceutical Policy and HD
The goal of Food and Drug Administration (FDA) is to enhance the efficacy of a drug and ensure that the health benefits of the drug outweigh the risks. The FDA introduces the pharmaceutical policy to evaluate a new drug before it is being sold to the public the policy is to provide wise information for patients and doctors about the drugs (FDA, 2016). This is especially true of drugs being used for treatment of HD. A drug company that intends to sell drugs that focus on the treatment of HD...
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