Essay on Evaluation and Management of Huntington's Disease

Essay on Evaluation and Management of Huntington's Disease

Length: 1332 words (3.8 double-spaced pages)

Rating: Strong Essays

Open Document

Essay Preview

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.
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 proce...

... middle of paper ...

...ase. CNS Neurosci Ther 2011 Dec;17(6):705–13.
16. Barker RA, Mason SL, Harrower TP, Swain RA, Ho AK, Sahakian BJ, et al. The long-term safety and efficacy of bilateral transplantation of human fetal striatal tissue in patients with mild to moderate Huntington’s disease. J Neurol Neurosurg Psychiatry 2013 Jun;84(6):657–65.
17. Handley OJ, Naji JJ, Dunnett SB, Rosser AE. Pharmaceutical, cellular and genetic therapies for Huntington’s disease. Clin Sci Lond Engl 1979 2006 Jan;110(1):73–88.

Key Clinical Recommendation Strength of Recommendation References
Tetrabenazine is recommended in HD patients to provide symptomatic relief for chorea A 8,9,10
Neurorehabilitation is recommended to delay chorea and improve ADL skills. B 14
The use of HD-specific scales such as the SCL-90-R, UHDRS and H-QoL-I are recommended to evaluate the severity of the disease A 4, 5, 7

Need Writing Help?

Get feedback on grammar, clarity, concision and logic instantly.

Check your paper »

A Guide to Undestanding Huntington’s Chorea Essay

- Huntington’s Chorea has been prevalent for over a century it was given its’ name in 1872 by George Huntington, a general practitioner from New York. (Williams & Hopper, 2011). Huntington’s Chorea is described as a neurological disorder affecting a person’s cognition, psyche, and motor function. (Liew, 2013 ). It is degenerative in nature and has no cure. (Aubeeluck & Wilson, 2008). It affects approximately one out of one hundred thousand people in United States alone. (Perrine Jr & Goodman, 1966)....   [tags: neurological, movements, treatments]

Strong Essays
1007 words (2.9 pages)

A Briefing of Huntington's Disease Essays

- Huntington’s disease is one the most overwhelming disorder throughout the medical history. It is a genetic disorder that is caused by an altered gene inherited by a parent that affects the brain. It affects the part of the brain that controls thinking, emotions and movement. This can cause unsteady and uncontrollable movement in the hands, feet and face. Abnormal movements such as walking, talking and swallowing are greatly affected by this disease. In 1872, Doctor George Huntington wrote an essay on chorea which described how Huntington’s disorder gains its name....   [tags: genetic disease affecting the brain]

Strong Essays
1215 words (3.5 pages)

Huntington's Disease Essay

- Huntington's Disease Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood....   [tags: Disease]

Strong Essays
529 words (1.5 pages)

Huntington's Disease Essay example

- Huntington’s disease is a degenerative neurological disorder affecting movement, cognition, and emotional state (Schoenstadt). There are two forms of Huntington’s disease (Sheth). The most common is adult-onset Huntington’s disease, with persons usually developing symptoms in their middle 30s and 40s (Sheth). There is an early onset form of Huntington’s disease, beginning in childhood or adolescence, and makes up a small percentage of the Huntington’s population (Sheth). Huntington’s disease is a genetic disorder with a short history, a plethora of symptoms, and devastating consequences, with no current cure in sight....   [tags: Disease/Disorders]

Strong Essays
1724 words (4.9 pages)

Essay on Huntington's Disease

- Huntington’s Disease is a brain disorder affecting movement, cognition, and emotions (Schoenstadt). It is a genetic disorder generally affecting people in their middle 30s and 40s (Sheth). Worldwide, Huntington’s disease (affects between 3-7 per 100,000 people of European ancestry (Schoenstadt). In the United States alone, 1 in every 30,000 people has Huntington’s disease (Genetic Learning Center). Huntington’s Disease is a multi-faceted disease, with a complex inheritance pattern and a wide range of symptoms....   [tags: Disease/Disorders]

Strong Essays
1558 words (4.5 pages)

Performance Evaluations : Performance Evaluation Essay

- There are several reasons organizations initiate performance evaluations, however the standard purpose for performance evaluations is to discuss performance expectations; not only from the employers perspective but to engage in a formal collaboration where the employee and the manager are both able to provide feedback in a formal discourse. There are many different processes an organization should follow when developing its performance evaluation tool; in addition essential characteristics that must accompany an effective performance appraisal process....   [tags: Human resource management, Evaluation, Management]

Strong Essays
896 words (2.6 pages)

The Huntington Disease Essay

- ... It is one of the most common neurodegenerative diseases present in humans. The side effects include loss of neuron cells and function, causing a butterfly effect and introducing other difficulties and symptoms in the patients. Peoples affected by the disease see a slow progression of the disease, and since it does not have a cure as of now it ends in death.Before the 18th, people used to think that victims of Huntington’s disease were possessed and controlled by an evil spirit, in turn making them outcasts in the society that they lived in....   [tags: evil spirit, history, genetics]

Strong Essays
600 words (1.7 pages)

Essay on Huntington's Disease

- Huntington's Disease A shadow of love doesn't have arms to embrace you, to make you feel wanted and secure. It only blocks out the warmth of what could be. -Jean Miller, a woman whose daughter Kelly died of Huntington's Disease A woman stares pensively out her bedroom window. Today is her twenty-seventh birthday. Most people have the whole rest of their lives to look forward to when staring out the window at this age, but not Sylvia. She isn't sure. Ten years ago her mother was diagnosed with Huntington's Disease, a late-onset genetic disorder, and Sylvia was forced to watch her mother deteriorate to the point where she could no longer take care of herself....   [tags: Genetics Disorders Diseases Papers]

Strong Essays
3464 words (9.9 pages)

Essay on Huntington's Disease

- Huntington's Disease Huntington's Disease (HD) is a dominant genetic disorder. Each child of a person who has HD has a 50% chance of inheriting the disease, and the disease does not skip a generation. HD is caused by a larger than normal CAG repeat in the Huntington gene. This larger than normal CAG repeat produces an abnormal protein that begins to kill brain cells when the person who has the gene reaches middle age. The loss of these cells causes intense symptoms and eventually death. HD was named after Dr....   [tags: Essays Papers]

Free Essays
662 words (1.9 pages)

Huntington's Disease Essay

- Huntington's Disease Huntington's Disease is a genetic autosomal disorder which effects the brain. It affects about 1 in 20,000 individuals. The symptoms of the disease do not start to occur until after or around 40 years of age. With the onset of the disease the patient starts to gradually deteriorate intellectually, this deterioration also causes involuntary movements. Scientists have only recently found the section of the gene which causes Huntington's disease, and this is allowed them to devise pre-symptomatic tests....   [tags: Papers]

Strong Essays
994 words (2.8 pages)