INTRODUCTION the overall symptoms, the effective management
INTRODUCTIONTay-Sachs disease or also known as acute infantile variant (Kaback & Desnick, 2011) is a heritabledisorder that mainly affects infants, adolescents and even adults. Thisbasically targets the nervous system of the human body. It is caused by thedeficient amount or the absence of hexosaminidase-A (Hex-A), a vital enzymefound in the brain cells that functions in metabolizing certain lipids(Campbell, Reece, Urry, Cain, Wasserman, Minorsky & Jackson, 2015).
Withoutthe presence of these essential enzymes, the lipids will accumulate abnormally inthe nerve cells. After which, the continuous accumulation and building up ofthe lipids causes more damage to the brain. Theheritable disorder takes place at early fetal development or during earlystages of the mother’s pregnancy. After child birth and up to the point wherethe child reaches the age of three to six months, he or she ‘appears’ to benormal.
But as soon as the child turns two years older, symptoms of the diseasewill become more apparent as the child grows older. Commonly, the childexperiences frequent seizures and will internally be experiencing degenerationof brain cells. The child will also be having a hard time crawling, sitting andeven reaching out (U.S.
National Library ofMedicine, 2018). In the worst case scenario, it may lead to paralysis, whereinhe is unable to move partly or his entire body. And as soon as the child turnsthree or four years older, the nervous system becomes badly affected—eventuallyleading to death. On the other hand, adults are not exempted to this kind ofdisease that is merely categorized as the Late-OnsetTay-Sachs disease. This also targets the brain specifically the brain cellscausing impairments in terms of intellectual and neuropsychological aspects (National Human Genome Research Institute, 2011). Becauseof the aforementioned effects of the said disorder and its progressiveobliterations towards the nervous system of the human body, the researcherwrote this study to make the respective readers become aware of this rare andinherited disorder and to let them understand the nature, the causes, theoverall symptoms, the effective management and preventive measures in order topreclude the possible occurrence of this disease.
