Huntington Disease Essay Example | Topics and Well Written Essays - 1500 words

Huntington Disease - Essay Example Autosomal dominant alteration (mutation) in any of the tow copies of an individual’s gene known as Huntington. Thus each child of the affected person usually has 50% chances of inheriting the Huntington’s disease. The physically apparent Huntington’s disease may develop at any age from birth to the death, but commonly they show up between the period of 35 to 44 years of age (Purdon et al., 1994). Clinical features Physical examination of an individual often in combination with psychological examination may help in the determination of the beginning of the onset of the Huntington’s disease. Extreme unplanned movements of body part are frequently the grounds for attempting medical consultation. Moreover, if these movements are disconnected and have haphazard distribution and timing, they propose the diagnosis of Huntington’s disease. Psychiatric or cognitive symptoms are seldom the initial diagnosed but they are commonly only distinguished in apprehen sion or when they grow further. The level of progression of disease can be gauged using a unified HD rating scale which renders an overall scoring system based on behavioral, motor, functional and cognitive assessments. Medical imaging, like MRI (magnetic resonance imaging) and CT (computerized tomography), can reveal caudate nuclei’s atrophy in the earlier stages of the disease but these alterations does not provide diagnostic of the disease. Cerebral atrophy is evident in the progressed stages. Functional neuroimaging methods such as PET and fMRI can reveal alterations in brain activity prior to the onset of symptoms (physical) but are used for experimental purposes and thus are not employed clinically (Jang-Ho Cha and Young, 2000). Huntington’s disease is characteristically a grownup onset disorder qualified by insidious onset of psychiatric as well as neurologic symptoms (Harper, 1996; Ranen et al., 1996). Within the U.S., about 25,000 individuals are impacted by H D (almost 10 out of 100,000 population) and roughly 150,000 individuals have 50% risk for the Huntington’s disease because of bearing an affected parent (Jang-Ho Cha and Young, 2000). The symptoms typically commence in the period between 35 to 45 years of age while disease onset may range from as immature as 2 years or as aged as 80 years. Early symptoms consist of personality change and the continuing emergence of small spontaneous movements (Harper, 1996). Symptoms develop, with chorea turning more incapacitating and obvious. Over existence, motor symptoms deteriorate such that difficulty in walking increases as do eating and speaking. Weight loss is general, to some extent because of the extra energy needed for extrinsic movements but also to heightened expenditures of quiescent basal energy. the majority HD patients ultimately surrender to aspiration pneumonia, due to swallowing difficulties (Purdon et al., 1994). Around 10% cases of HD initiate prior to the age of 20. Th e Westphal variant (juvenile form) exhibits more parkinsonian nature. Instead of chorea, the eminent features are rigidity, bradykinesia and tremor. The juvenile onset may contain seizures. Juvenile onset typically consequences from transmission from father (Nance and Myers, 2001). Among individuals who produce symptoms prior to 10 year’s age, it has been seen that greater than 90% possess father with the same disease (Ranen et al., 1996). This propensity for anticipation of onset in younger age within following generations is