DNP 810 Topic 3 Case Study: Part Two – Essay Furious


DNP 810 Topic 3 Case Study: Part Two

DNP 810 Topic 3 Case Study: Part Two

Case #2 Huntington’s Disease

Chromosomal Analysis of the Disorder

Huntington’s disease or better known as Huntington chorea (HD) is a genetic and progressive disorder that affects the central nervous system (CNS) of human subjects. The disorder is readily characterized by cognitive and psychiatric symptoms as well as motor abnormalities in patients (Roos, Wiklund & Laurell, 2017). Patients diagnosed with the disorder are also likely to experience respiratory symptoms, especially, complications related to aspiration. HD is chromosomal as it is an autosomal-dominant inherited disorder caused by replication in the DNA strand of a susceptible person (Rodríguez-Quiroga et al., 2013). This neurodegenerative disorder also occurs due to an abnormality in Cytosine-Adenine-Guanine (CAG) in the DNA strand which replicates up to 36 or more times on the short arm of chromosome for people with the Huntingtin gene. Basically, HD is a disease linked to multiple number of repeats of CAG in the chromosome of patients with the condition. The disease progresses to central nervous system causing jerky and semi purposive movements of the trunk, limbs or face of the affected persons (Squitieri et al., 2016). The outcome leads to psychiatric illnesses in a person usual recognized in the form of cognitive and behavioral dysfunction.

Causes of the Disorder

Huntington’s disease starts as a mutation which encodes genes in the chromosome of a person. Gene mutation then occurs leading to a repetition of protein that encodes the Huntingtin (HTT) protein (Roos, Wiklund & Laurell, 2017). As such, HD is an inherited condition with an autosomal dominant factor transmission mechanism that affects both males and females. The susceptibility to the infection varies across families as the onset can occur between age 35 and 45 years (Baine, Krause & Greenberg, 2016). However, children of parents having Huntington’s gene are at a 50% chance of developing the condition. The onset of HD is common between the ages of 25 and 45 years though it also occurs among people in the range of 3 to 70 years. The condition affects people of all races across the world with between 30 and 40 individuals affected in the western population (Roos, Wiklund & Laurell, 2017). Besides, the disease is estimated to affect 5 to 10 per 100,000 person implying that about 189,700 people have the condition across the world (Rodríguez-Quiroga et al., 2013).

HD is identified by rapid to non-patterned and semi purposeful choreiform movement. At the onset stages, Huntington’s’ disease tends to be segmented or focal but later progresses to affect other parts of the body. Often, oculomotor abnormalities, dysarthria and gait disturbance are major common features of the disorder. Notably, atypical motor symptoms have been reported to be the initial manifestation of the condition in patients (Squitieri et al., 2016). People with the disorder also develop spinocerebellar ataxias (SCAs) which masquerade as cognitive impairment to patients.

Origin of Huntington’s Disease

According to Squitieri et al. (2016), HD is a gene inherited disorder and it is majorly associated with Huntingtin protein. Molecular analysis of HTT gene also confirms an abnormally in CAG repeat which affirms a diagnosis of HD in a patient. In essence, HTT protein is a major determining factor in the development of Huntington’s disease in a person (Rodríguez-Quiroga et al., 2013). In other approaches, molecular studies involving SCA rated as 1, 2, 3, 6, 8, 17 and dentatorubropallidolusyian atrophy (DRPLA) shows that Huntington’s disease-like genes (HDL2) are expanded in alleles of carriers thereby providing a basis for the development of a diagnosis (Baine, Krause & Greenberg, 2016). The manifestations of the HD are also predominant for people with HDL2 phenocopies. Considerably, HTT aggravates autosomonal recessive disorder in HD patients making them manifest symptoms such as ataxia, dystonia, dysarthria and mental deterioration (Roos, Wiklund & Laurell, 2017).

The signs and symptoms presented by the patients can provide a basis for patient health intervention involving care education. A care provider will use the outcomes to evaluate the mental function of a patient before formulating a therapy plan. Most often, patients with HD manifest cognitive impairment and this can appear as dementia in adults (Baine, Krause & Greenberg, 2016). Counseling plans should therefore focus on the mental deterioration of a patient and offer workable solutions that do not require the clients to remember.

Notably, treatment of the condition is combined with neurological evaluation to examine the onset of involuntary movement of a patient (Squitieri et al., 2016). The investigation is made by asking patients if they experienced involuntary movement of the upper, lower or both of the limbs over the past six months (Roos, Wiklund & Laurell, 2017). Patients are also asked about their inability to undertake normal activities since the onset of the disease. The approach guides in the provision of medication that address both the neurologic conditions and HD in patients (Baine, Krause & Greenberg, 2016). Generally, genetic counseling is recommended to patients at risk of Huntington’s disease especially when family members also manifest the disease. The approach enables them to understand the level of their susceptibility so that the take precautions accordingly.

Gene Mutation of the Disease

The gene mutation of HD encodes the protein HTT which results in replication of alleles in the chromosome of a susceptible patient. Replications for HD is abnormal as it exceeds the average value of 28 (Squitieri et al., 2016). Beyond this number, the gene multiplies

DNP 810 Topic 3 Case Study Part Two

DNP 810 Topic 3 Case Study Part Two

at a higher rate and this reflects the pattern of the disease in patients. Ideally, HD can be named depending on the variation of the age of replication of the protein (Squitieri et al., 2016). If the mutation and replication occur in a patient at the age of 50 years and beyond, then it is considered as late-onset HD. The latter affects about 25% of the cases developing the condition (Rodríguez-Quiroga et al., 2013). On the other hand, if the replication occurs in a person before the age of 20 years, then the condition is classified as juvenile HD. The latter represents about 10% of HD cases globally. From these illustrations, it is clear that HD is prevalent among older people (Roos, Wiklund & Laurell, 2017). In this regard, HD can as well be masked by dementia and therefore there is a need to assess the condition amicably to formulate relevant intervention to a patient.

References

Baine, F. K., Krause, A., & Greenberg, L. J. (2016). The frequency of Huntington disease and Huntington disease-like 2 in the South African population. Neuroepidemiology46(3), 198-202. https://doi.org/10.1159/000444020.

Rodríguez-Quiroga, S. A., Gonzalez-Morón, D., Garretto, N., & Kauffman, M. A. (2013). Huntington’s disease masquerading as spinocerebellar ataxia. Case Reports2013, bcr2012008380. doi: 10.1136/bcr-2012-008380.

Roos, A. K., Wiklund, L., & Laurell, K. (2017). Discrepancy in prevalence of Huntington’s disease in two Swedish regions. Acta Neurologica Scandinavica136(5), 511-515. https://doi.org/10.1111/ane.12762

Squitieri, F., Griguoli, A., Capelli, G., Porcellini, A., & D’alessio, B. (2016). Epidemiology of Huntington disease: first post‐HTT gene analysis of prevalence in Italy. Clinical genetics89(3), 367-370. https://doi.org/10.1111/cge.12574

 

DNP 810 Topic 3 Case Study: Part 2

You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 2. Use an example from your own personal practice, experience, or your own personal/family; however, simulated cases are not acceptable for practice hours and therefore not acceptable for this assignment. Examples might include a patient with Duchesne’s muscular dystrophy. Huntington’s disease, Down’s syndrome, sickle cell anemia, BRCA 1 or BRCA 2 mutations, or other genetic disorder that you and/or the organization you practice in may specialize in treating.

General Requirements:

Use the following information to ensure successful completion of the assignment:

  • This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
  • Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
  • This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.
  • You are required to submit this assignment to LopesWrite. Refer to the LopesWrite Technical Support articles for assistance.

Directions:

For this assignment (Part 2 of the “Case Study”), write a paper (1,000-1,250 words) incorporating genetics information learned from assigned readings in Topics 1-3. Include the following:

  1. Describe if chromosomal analysis is/was indicated.
  2. Detail the causes of the disorder.
  3. Describe the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education.
  4. Analyze the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.

It may be possible to earn portfolio practice immersion hours for this assignment. Enter the following after the references section of your paper:

Practice Immersion Hours Completion Statement DNP-810

I, (INSERT NAME), verify that I have completed (NUMBER OF) clock hours in association with the goals and objectives for this assignment. I also have tracked said practice immersion hours in the Typhon Student Tracking System for verification purposes and will be sure all approvals are in place from my faculty and practice mentor.

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