INTRODUCTION grows older. Commonly, the child experiences frequent seizures


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.


As it is written in the previous section of the paper, both infants and adults are susceptible to this type of disease leading to specific abnormalities in the functioning of the human body systems and it mostly impairs the locomotor skills of the patients positively diagnosed with this type of genetically passed-on disease. It has been discovered and known to experts in the certain field such as Campbell et al. (2015) that only children having two copies of Tay-Sachs allele (homozygotes) have the disease. This usually comes from their parents who are known to be carriers of genes and sometimes parents are unaware that they are possessing the Tay-Sachs disease with themselves.

            With relevance to these statements, a deficiency in the Hex-A enzyme primarily results to the progressive development of Tay-Sachs disease. The production and the secretion of the Hex-A enzymes has the ability to hinder or stop the building-up of the lipid that circulates within the brain cells and if the enzyme is confirmed to be in an inadequate amount, it will then soon form unwanted substances accumulating within the brain (NHGRI, 2011). A person having both the active and inactive gene (deficient amount of Hex-A) can still be considered as ‘healthy’. But prior to this, there is a greater and equal chance that the disease may be inherited by the offspring, making them potential carriers and will later on show obvious signs/symptoms of a patient having Tay-Sachs disease.  

            In the study conducted by Utz, Crutcher, Schneider, Sorgen, & Whitley (2014) about the biomarkers of central nervous system inflammation, infantile gangliosidosis has greater inflammation rate compared to the juvenile type of gangliosidosis. Juvenile gangliosidosis progresses slower as it is relatively known and is slightly less destructive when we are to take into consideration Tay-Sachs disease affecting children/infants. Also, in a related study done by Jarnes Utz, Kim, King, Ziegler, Schema, Redtree, & Whitley (2017) they were able to come up with objective observations concerning the effects and the physical and mental changes occurring or are experienced by infant patients after they have done assessments and clinical studies and trials. They have found out that children ages below six months old have hypotonia. Children in their first year of growth, have severe motor skill impairment while seizures, dysphagia and other related symptoms are experienced by infants below or before he/she reaches the age of two.


            According to USNLM (2018), Tay-Sachs disease may not be familiar or is rather rare to the general public. It is typically inherent amongst the Ashkenazi Jewish tribe than in other nationalities wherein one out of 27 Jewish citizens in the United States are said to have the disparaging gene. (NHGRI, 2011). 

            In order to accomplish the objective of characterizing the mental status among a set of individuals with late-onset Tay-Sachs disease, Zaroff, Neudorfer, Morrison, Pastores, Rubin, & Kolodny (2004) evaluated seventeen subjects, ages 18-56 years and were in various stages of disease development. These patients went through series of comprehensive mental appraisals and it came out that nearly half of the group belonged to those individuals that are having difficulties with mental processing and one-third of the group were categorized as people who are having trouble in terms of verbal recollection. After the series of evaluation, researchers concluded that there is a greater possibility that patients specifically adults diagnosed with Tay-Sachs disease will have their memory cores severely affected.

            Aside from the abnormalities found in adults with Tay-Sachs disease (Zaroff, et al., 2004), nerve damage is somehow prominent to infants from ages 3 to 6 months. And if this will continue to progress, early death among infants is possible (most probably in the child’s fifth year of existence starting from birth).

            International efforts and initiatives have been done for early detection and diagnosis such as the works of Kaback, Lim-Steele, Dabholkar, Brown, Levy, & Zeiger (1993). Their objective was to conduct prenatal screenings and genetic testings in order to detect the disease as early as possible and to avoid/prevent the likelihood of passing on the destructive gene to their future offsprings. They have also planned and started putting up Tay-Sachs disease testing centers in order to annually assess the developments and recent advancements when it comes to the recently evolving DNA technology and how it has changed and improved the lives of the people.  


            Up to these days, remedies are not yet available in the market but experts suggest that ‘palliative care’ can be done to at least lessen the burden of Tay-Sachs disease patients and at the same time pamper them and meet their medical needs (Healthline, 2005). Palliative care may include medication for pain or what we call painkillers, in order to ease or soothe the pain of these children by rerouting the path of pain signals back to the brain through the special nerve endings. Its basic function is to interfere with the senses or the links between the brain and the spinal cord, making them feel as if nothing is going on, when apparently there is (Science Museum, 2018). However, there are negative side effects when painkillers are taken abusively or beyond the prescribed dosage. Nausea, vomiting, and diarrhea are only few of the known mild side effects of the excessive usage of painkillers (Patterson, 2018).

Other treatments in alleviating the negative effects of the Tay-Sachs disease brought to children and even adults include: anti-epileptics (that are also helpful in controlling seizures experienced by these patients), physical therapy, and respiratory care (lessening the accumulation of mucus inside the lungs) (Healthline, 2005).


            Since Tay-Sachs disease is inherited, it is recommended to have individuals screened for the early detection of Tay-Sachs disease and at the same time to mediate the possibility of passing on the disease to the child (if parents are proven to be carriers) by undergoing genetic tests (NHGRI, 2011). The early screening and detection emerged during 1970s and has later reduced the chances of Ashkenazi Jews having identified with Tay-Sachs disease.


In the entirety, Tay-Sachs disease is primarily the result of deficient amount of the enzyme known as hexosaminidase-A, that is a crucial substance in breaking down lipids or gangliosides. Due to the insufficient amount of these enzymes, these lipids will otherwise fail to metabolize and will eventually accumulate along the brain cells specifically in the nerve cells. The abnormality occurring along the nerve cells will develop during early stages of fetal development or during pregnancy and will not be evident until the child reaches three to six months old. Children who are diagnosed with this type of genetic disorder will only have a shorter life expectancy compared to those children who do not have and will only reach five years at maximum. Symptoms of motor skills impairment, paralysis, deafness, blindness, loss of muscular strength etc., will be eminent among infants and even juveniles who have TSDs. Even so, adults are also susceptible to this type of genetic disorder leading to neuropsychological degeneration and is considered as the Late Onset Tay-Sachs disease.

            No found cures are available at this point in time but several treatments are available such as the usage of pain killers, anti-epileptic drugs, and physical therapies. But some of these medications and medical practices should be taken into careful account since these do not only have beneficial effects but negative effects on the subject as well.

            Lastly, the best way to prevent the rapid spread and progression of this disease among individuals and particularly, infants is to have their parents checked or tested with genetic tests or even simple blood tests that detect genes having Tay-Sachs disease and therefore, reducing the chances of pass ing on the inactive gene having lesser amounts of Hex-A to their offspring.