INTRODUCTION the overall symptoms, the effective management

INTRODUCTION

Tay-Sachs disease or also known as acute infantile variant (Kaback & Desnick, 2011) is a heritable
disorder that mainly affects infants, adolescents and even adults. This
basically targets the nervous system of the human body. It is caused by the
deficient amount or the absence of hexosaminidase-A (Hex-A), a vital enzyme
found in the brain cells that functions in metabolizing certain lipids
(Campbell, Reece, Urry, Cain, Wasserman, Minorsky & Jackson, 2015). Without
the presence of these essential enzymes, the lipids will accumulate abnormally in
the nerve cells. After which, the continuous accumulation and building up of
the lipids causes more damage to the brain.

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            The
heritable disorder takes place at early fetal development or during early
stages of the mother’s pregnancy. After child birth and up to the point where
the child reaches the age of three to six months, he or she ‘appears’ to be
normal. But as soon as the child turns two years older, symptoms of the disease
will become more apparent as the child grows older. Commonly, the child
experiences frequent seizures and will internally be experiencing degeneration
of brain cells. The child will also be having a hard time crawling, sitting and
even reaching out (U.S. National Library of
Medicine, 2018). In the worst case scenario, it may lead to paralysis, wherein
he is unable to move partly or his entire body. And as soon as the child turns
three or four years older, the nervous system becomes badly affected—eventually
leading to death. On the other hand, adults are not exempted to this kind of
disease that is merely categorized as the Late-Onset
Tay-Sachs disease. This also targets the brain specifically the brain cells
causing impairments in terms of intellectual and neuropsychological aspects (National Human Genome Research Institute, 2011).

            Because
of the aforementioned effects of the said disorder and its progressive
obliterations towards the nervous system of the human body, the researcher
wrote this study to make the respective readers become aware of this rare and
inherited disorder and to let them understand the nature, the causes, the
overall symptoms, the effective management and preventive measures in order to
preclude the possible occurrence of this disease.