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Thursday, January 2, 2020

Huntington s Disease ( Hd ) Is A Neurodegenerative Disease

Huntington’s disease (HD) is a neurodegenerative disease that affects roughly 10 individuals per 100,000 (Nopoulus, 2016). This disorder is normally associated with symptoms including motor impairment, namely slowed movements and random muscle contractions, as well as depression and cognitive dysfunction. However, another prominent symptom that has yet to be mentioned until recently is sleep disturbance and alteration of normal circadian rhythms. It is estimated that 60-90% of HD patients have sleep issues and that nearly 60% see those issues as being factors in their overall problems (Goodman et al., 2010). Despite the minimal volume of studies, the overwhelming proportion of HD patients who are afflicted with circadian dysfunction and†¦show more content†¦However, in HD patients metabolic dysfunction is commonplace (Morton, 2013). A study using transgenic R6/2 mice, which were designed to imitate conditions similar to HD, has shown that the mice exhibit dysfunction and disconnection of the peripheral clocks from the SCN’s control (Maywood et al., 2010). These mice exhibited liver function that was characterized by loss of circadian control. The liver plays a crucial role in maintaining metabolic homeostasis, so this could be a possible explanation to the metabolic dysfunction that is seen so often in HD. If the peripheral clocks are disoriented from the central rhythms, then this can result in different body systems no longer working as effectively as when they are in sync. Furthermore, research has also revealed that circadian function within the SCN is also directly affected by HD. In another study using R6/2 mice, it was found that the mice’ night-day ratios were abnormal, revealing circadian disruption (Morton et al., 2005). In addition to their activity patterns, the mice’ SCN activity were also directly measured using electrodes and a clamp. After monitoring, it was found that the expression of their clock genes was severely disrupted. While knowing that circadian rhythms directly within the SCN are altered in organisms with HD is an essential step to find the most efficient treatment to normalize these organisms, it does not reveal the way in which Huntington’sShow MoreRelatedGenetic Testing And Mental Health Disorders1039 Words   |  5 PagesHuntington’s disease through human genome and family research. Diagnostic and presymptomatic testing is available by discovering a gene mutation for Huntington Disease (HD) and prepares persons who are at risk for Huntington Disease (HD) to ask for genetic testing. A multi-visit protocol is enacted when HD genetic testing is offered through HD testing centers, followed by education and counseling for those requesting to have HD gene testing. I will use this paper to define Huntington’s disease, choreaRead MoreGenetic Disease Is An Autosomal Dominant Neurodegenerative Disorder737 Words   |  3 PagesGenetic diseases are diseases th at are passed on from parents to their offspring. An example of a genetic disease which can be inherited is Huntington Disease. Huntington Disease is an autosomal dominant neurodegenerative disorder with midlife onset characterised by psychiatric, cognitive and motor symptoms(G. Vonsattel and DiFiglia, 1998). The statistics for HD blah blah blah Like all genetic diseases, huntington s disease has a specific inheritance pattern. Huntington disease is an autosomalRead MoreSymptoms And Treatment Of Huntington s Disease1350 Words   |  6 PagesHuntington s Disease Huntington s disease is an inherited neurodegenerative disease that is caused by a mutation on the HTT gene. It typically effects persons in their third to fifth decade of life and can be passed onto their children. 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The author reports that Huntington’s disease is a neurodegenerative condition that has symptoms like: trouble speaking or swallowing, involuntary movements, depression, delusions, and dementia. Also, sh e describes how the disease is diagnosed by a generic test, and what the patientsRead MoreHuntington s Disease : A Genetic Disorder1121 Words   |  5 PagesAbstract: Huntington’s Disease- Huntington s disease (HD) is a neurodegenerative genetic disorder. It affects the muscle coordination and decline in cognitive that leads to dementia. It affects both males and females in their middle age (J.D, 2015). Huntington’s disease is most common in genetic causes the leads to abnormal involuntary movement also called Huntington’s chorea (J.D, 2015). 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