Evaluation And Management Of Huntington's Disease

1915 words - 8 pages

INTRODUCTION
Huntington’s Disease (HD) is a genetically transferred, progressive neurodegenerative disease that is caused by a defect on chromosome 4. The chromosomal defect is inherited through an autosomal dominant gene and causes a cytosine-adenenine-guanine (CAG) repeat to occur more often than expected. This codes for an abnormality in the protein huntingtin. When huntingtin has mutated, cells are not able to carry out their functions, leading to neuronal death(1). This death causes motor, psychiatric and cognitive abnormalities, which completes the triad of symptoms that are typical of HD.
CLINICAL PRESENTATION
HD has characteristic signs and symptoms that form a stereotypical clinical presentation. The typical with HD is of European descent and between 30-50 years old. Symptoms are divided into three categories: motor, psychiatric and cognitive. The motor abnormalities, or chorea, fall onto a spectrum of severity. Initially, they may consist of small restless movements. Eventually, involuntary choreoathetoid movements of the extremities, head and face are apparent. These movements are the hallmark of HD and lead to extreme disability.
While the chorea may be the most striking feature of HD, psychiatric and behavioral disturbances are generally the first to present, occurring decades before movement abnormalities are noted(2). These consist of depression, anxiety, irritability and extreme anger. Psychotic disturbances can also be problematic for these patients.
Cognitive decline will also affect patients with HD. They experience defects in memory, judgment and reasoning along with a decreased ability to plan and organize. Studies have shown that tracking motor planning/speed and sensory-perceptual processing are the best indicators of a patient’s cognitive ability, particularly when a patient is pre-diagnosis(3). As the cognitive abilities decline, dementia will set in and continue to progress.
DIAGNOSIS AND EVALUATION
Diagnosis and evaluation of HD can be accomplished through symptomatic diagnosis, imaging studies and genetic evaluation. Symptomatic diagnosis is made by the combination of motor, psychiatric and cognitive abnormalities discussed previously. For those portraying abnormalities consistent with HD, questionnaires such as the Symptom Checklist 90 Revised (SCL-90-R) can be helpful. The SCL-90-R is completed by the patient and is designed to evaluate all components of HD(4). Other scales such as the Unified Huntington’s Disease Rating Scale (UHDRS) and the HD-specific Quality of Life Instrument (H-QoL-I)(7) can also help to evaluate functioning, severity and treatment effectiveness. The PREDICT-HD study suggests that considering all potential factors and taking a multidimensional approach for those at risk for HD can lead to treatment initiation before significant functional deterioration(5).
Neuroimaging studies are used to diagnose and evaluate the rate of neurodegeneration. A CT may show loss of...

Find Another Essay On Evaluation and Management of Huntington's Disease

Evaluation of Performance Management as a Management Process

3084 words - 12 pages The management process I have chosen to evaluate for this project is Performance Management. Performance Management is a management process put in place by an organisation to ensure that employees are aware of the level of performance expected of them in a particular role within said organisation, as well as any individual objectives they will need to achieve to achieve the overall organisational objectives. Evaluation of Performance

Samuel Huntington's The Clash of Civilizations and the Remaking of World Order

2665 words - 11 pages Abstract Samuel Huntington's The Clash of Civilizations and the Remaking of World Order defines eight major civilizations on the basis of religion. This division of global powers can be used to prove that the Western civilization will never completely dominate the global media. While Western thought tends to lead to a more representative form of government, and consequently a more libertarian or social responsibility-based media, the other

Critically evaluate how Said's "Orientalism" thesis and Huntington's "clash of civilization" thesis apply to Asian.

992 words - 4 pages -identification of people". These divisions are deep and increasing in importance. In this article, there also exist some problems with Huntington's notion of civilization which apply to Asia.The first problem is Huntington argues that civilization identity is not only real but also basic. In Huntington's view, religion as the central defining element of civilization and it is not same as language, culture, history and custom, as religion beliefs do not

Evaluation of the Role of Management in Improving Business Performance

4595 words - 18 pages Evaluation of the Role of Management in Improving Business Performance What Management is Management relates to the implementation of decisions and actions through means by which individuals set and fulfill an organization's targets through several factors. These elements take into consideration human, technical and financial resources which are reliant upon their respective environment. In other words

Glomerular Filtration Rate and Chronic Kidney Disease Management

3008 words - 12 pages . (Babos, et al., 2009). Procedures on how the study was carried out The two authors designed a survey with questions related to the knowledge of definition, classification, risk factors, laboratory evaluation, and management of CKD as well as CKD complications and indications for referral. A 14-page questionnaire was designed consisting of clinical vignettes with multiple-choice questions. The link to the survey was sent to the program

Patient/Family Education Teaching Guide: Health and Disease Management

640 words - 3 pages Topic/Purpose: This handout will describe diabetic eye disease and complicationsAll people with diabetes need to get a dilated eye exam at least once a year. Diabetes is a serious disease that causes problems like blindness, heart disease, kidney failure, and amputations (Pottinger, 1997). But by taking good care of yourself through diet, exercise, and special medications, you can control diabetes. Diabetic eye disease, a complication of

The Importance of Program Evaluation and Three Evaluation Models

1779 words - 7 pages and applicable for today’s global market. This paper will discuss the importance of program evaluation and three evaluation models, Tyler’s Goal Attainment Model, Stufflebeam’s CIPP Model and Scriven’s Goal Free Model. CURRICULUM EVALUATION Curriculum evaluation is an important aspect of any national education system. It provides the basis for curriculum policy decisions, feedback on continuous curriculum adjustments and processes of

Does the Current Conflict Between the West and Islam Confirm or Contradict Huntington's Clash of Civilization Thesis?

2604 words - 10 pages Samuel Huntington's thesis on "The clash of civilisations" of 1993 provoked a plethora of varied responses. A Professor at Harvard University, Huntington wrote in order to voice his predictions and warn the world of an upcoming clash of cultures, most notably between the West and Islam. The recent reaction in the Middle East to America's self-styled 'war on terrorism' provides a timely case study for this debate. While an affinity will

: the basic functions of Human Resource Management: planning and forecasting human resource requirements, recruitment and selection, appraisal, evaluation and employee motivation. UOP: MGT 431

1799 words - 7 pages This summary paper provides a full description and analysis of the Human Resource Management (HRM) function. Included in this paper are key topics discussed in this module: the basic functions of Human Resource Management: planning and forecasting human resource requirements, recruitment and selection, appraisal, evaluation and employee motivation. Additionally, this paper addresses employee quality of life and productivity programs and

Evaluation of Depression and Breast Cancer

7053 words - 28 pages opportunity for LCSW with aid of the psychiatric consultation, screening and treatment. The use and integration of psychiatric scales in patient evaluation and diagnoses is one step closer to achieving this goal.With one in ten women being diagnosed with breast cancer at some point in their lives, and over half of these women developing serious psychological consequences of the disease, the health care community have a clear imperative to

Evaluation of Tools against Hacking and Cracking

4288 words - 17 pages Abstract: The aim of this assignment is to evaluation of tools against hacking and cracking. Hacking and cracking is a big issue in Internet security now days. The report describe about the internet threats and how we can protect internet from hacking and cracking. It describe about most important tools available against internet hacking and creaking like antivirus softwares, firewalls and e-commerce trust and SSL (Secure Sockets Layer).1

Similar Essays

Huntington's Disease And Its Ethics Essay

1008 words - 4 pages Huntington's Disease and Its Ethics In “Genetics and Reproductive Risk: Can having children be immoral,” L.M Purdy discusses the notion that the recent advances in reproductive technology impose a moral obligation on individuals to prevent the birth of “affected” babies that will not have a “minimally satisfying life.” There are, however, several assumptions that the author makes in reaching the conclusion that

Evaluation Of Strategic Management Essay

9065 words - 36 pages Resources And Capabilities...............................................9Benefits Of Strategic Analysis..............................................................10Conclusion.....................................................................................11References.....................................................................................12Introduction"Strategic management is the process of decision making which have high medium

An Evaluation Of Information Security And Risk Management Theories

2183 words - 9 pages processes. The authors suggest that the outcome of this evaluation allows for the identification of essential security programs and the employment of IT security controls to mitigate these risks. The intended outcome of utilizing this theory is to manage risks until they are at a permissible state. The Risk Management Theory, while broad in nature, does not encompass enough of the information security and risk management paradigm. Though it is

Acute Management Of Crohn’s Disease Essay

1953 words - 8 pages ultimately result in the load of finances to be placed on other members of the family. Management of this disease is very difficult on the patient and their family. In daily practice, the main goal in reducing patients’ symptoms and the impact on their daily life is important when targeting improvement of their overall quality of life (Haappamaki et al., 2009). Futhermore a study performed by Camara, Juillerat, Pittet, Schoepfer, Begre, Kanel and the