Medical Essay on Huntington's Disease

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Middlebury College
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Huntington disease is a hereditary brain disorder, which causes the death of cells in some parts of the brain making it hard for the individual to recall events, control movement, and make decisionsCITATION Oli14 \p 24 \l 1033 (Quarrell and Rosser 24). The disease occurs in an autosomal dominant form; this means that presence of an altered gene is enough to cause Huntington diseas. Every human being has two alleles for the Huntington gene (HHT), which gives instructions for the manufacture of protein huntingtin (Htt)CITATION Oli14 \p 24 \l 1033 (Quarrell and Rosser 24). A typical gene is made up of three DNA bases that contain a sequence of trinucleotide cytosine-adenine-guanine (CAG), which vary in length among individuals. People with a dominant gene for Huntingtons disease have a different sequence that repeats itself abnormally. This leads to the abnormal production of a mutated huntingtin protein (mHtt) that damages brain cells, causing Huntingtons disease (Paulsen et al. 2010).

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If one of the parents possesses the altered genes, each child has 50/50 chance of inheriting the gene. However, if the child does not get this defective gene from his or her affected parent, they cannot pass it to their children, but it is also possible for one to inherit the Huntington gene in some families but in others, none inherits (Paulsen, et al. 201). Most individuals with Huntingtons disorder begin to develop signs during their 30s or 40s though its onset might be earlier or even later in life (Paulsen, et al. 201).

Huntingtons disorder shows three types of symptoms: cognitive, movement, and psychiatric. Uncontrolled movements may develop on the face, fingers, or feet during early stages of the disease though the changes might be relatively subtle making it impossible to keep working and driving (Pringsheim et al 1083). These symptoms become extreme once the person gets disturbed or anxious and with time, other symptoms emerge. These include clumsiness, fidgety movements that cannot be controlled, eating difficulties, slurred speech, uncontrolled continuous muscular contractions, and depression (Pringsheim et al. 1087). During the late stages of the disorder, walking and speaking become completely impossible and fidgety movements become severe, or they may subside. Cognitive symptoms occur an individuals memory and judgment begins to worsen. As the disease progresses, a person faces challenges such as; difficulties in decision making, troubles in swallowing and speaking, concentration becomes harder and it becomes difficult in keeping track of things and staying organized (Pringsheim, et al. 1097). Finally, there are early psychiatric symptoms, which are varied, subtle, and easily misinterpreted. The most common psychiatric symptom is depression though some people may develop bipolar disorder and hallucinationsCITATION Oli14 \p 42 \l 1033 (Quarrell and Rosser 42). Huntingtons disease can also occur in a juvenile form that begins during adolescence. Earlier onset mostly results in the somewhat different appearance of symptoms. The signs include, slow movements and frequent falling, clumsiness, slurred speech and impaired reasoning ability.

Huntingtons disease is estimated to affect every 3 to 7 per 100,000 people of the European ancestry (Ross and Sarah 83). In America alone, about 30,000 are affected by the disorder, and its prevalence is estimated at 1 in every 10,000 people (Ross and Sarah 83). The disease is common all over the world and affects both men and women. However, it is not very common in other parts of the world such as Africa China and Japan (Ross and Sarah 98).

Diagnosis of Huntingtons disease is made after a systematic neurological checkup, including genetic testing or brain imaging and assessment of family history (Pringsheim, et al. 1092). No cure has been discovered yet though medication can be used to manage symptoms like irritability and excessive movements. Average life expectancy of an individual with Huntingtons disease is approximated at 10-30 years (Paulsen, et al. 204).

Works Cited

BIBLIOGRAPHY Quarrell, Oliver and Anne Rosser. Huntington's Disease. Carlifornia: Morgan & Claypool, 2014.

Paulsen, Jane S., et al. "Striatal and white matter predictors of estimated diagnosis for Huntington disease." Brain research bulletin 82.3 (2010): 201-207.

Ross, Christopher A., and Sarah J. Tabrizi. "Huntington's disease: from molecular pathogenesis to clinical treatment." The Lancet Neurology 10.1 (2011): 83-98.

Pringsheim, Tamara et al. "The incidence and prevalence of Huntington's disease: A systematic review and metaanalysis." Movement Disorders 27.9 (2012): 1083-1091.

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