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1Sandhoff’s DiseaseNameInstitutionCourseDate
2IntroductionSandhoff disease is a rare lysosomal storage disease mainly caused by detrimentalchanges in the beta-hexosaminidases gene. Detrimental changes in genes reduce enzymes in thelysosomes, resulting in a buildup of specific lipids in nerve cells. In turn, the lipid buildupimposes damages to the central nervous system, impairing intellectual capacity and may result inparalysis, especially in children. The absence of essential enzymes is the primary cause ofSandhoff's disease. The most common form of this infection appears in infancy. Babies sufferingfrom this infection may seem normal until the age of 6 months, when their development beginsto slow and muscles start to weaken. Sandhoff's disease is genetics and thus can be transferredfrom one generation to the other.Signs and SymptomsThe disease is characterized by several signs and symptoms that are usually observed inchildhood, adolescence, and adulthood. The disease leads to the gradual regress of several skillssuch as crawling during infancy, and this trend progresses rapidly. Infants with this disorderexperience loss of coordination within the first six months after birth, which causes difficulties incrawling, sitting, and turning over (Sung, 2018). It can also cause feeding problems, delayedspeech, heart murmur, early blindness, and overreaction to loud noises. When sifted through by aphysician, he/she may notice red spots in the back of the eye and an abnormal reflex on foot,which is a clear indicator of nervous system damage.Besides, infants suffering from this illness may portray other signs such as unique facialfeatures and a large head. In most cases, babies with Sandhoff disease do not live past five years.

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Term
Spring
Professor
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Tags
DNA, Sandhoff disease

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