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
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
enzymes, the lipid (GM2 ganglioside) accumulates abnormally in cells, specifically
in the nerve cells. After which, the on-going accumulation causes more damage
to the brain.

inheritable disorder commonly starts at early fetal development or during early
stages of 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 is apparent
wherein recurrent seizures and diminishing mental function usually takes place.
The child will also be having a hard time crawling, turning over, sitting and
even reaching out (U.S. National Library of
Medicine, 2018). In the worst case scenario, it may lead to blindness,
cognitive impairment, paralysis and non-responsiveness. 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 also susceptible to
this kind of disease merely categorized as the Late-Onset Tay-Sachs disease causing intellectual and neurological
impairment (National Human Genome Research
Institute, 2011).

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.

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As it is written in the previous section of the
paper, the disease causes fatality common to infants experiencing motor and
mental degeneration beforehand and even adults are no exemption to this type of
disease. It has been discovered and known to experts in the certain field such
as Campbell et al. (2015) that only children inheriting two copies of Tay-Sachs
allele (homozygotes) have the disease. However, the relationship among alleles
of a single gene—whether the alleles appear to be completely dominant,
incompletely dominant or codominant depend only on the level at which the
phenotype is analyzed (organismal, biochemical, and molecular level).

relevance to these statements, a certain defect in the Hex-A gene primarily
causes Tay-Sachs disease, wherein humans have two copies of the particular
gene. And whether both of these Hex-A genes are active or just either of the
two, the body will then be able to reproduce or secrete enough enzymes to
hinder the irregular building up of the lipids particularly in the brain cells
(NHGRI, 2011). While a person having both active and inactive gene is believed
to be a ‘carrier’, he or she is still considered as healthy. But there is a
fifty percent chance that the disease will be passed on to his or her future
off-springs—making them potential carriers as well and will have greater
chances of acquiring Tay-Sachs disease coming from their respective parents (if
both parents happen to be carriers).

(1999) also presented in his study that Tay-Sachs disease can be primarily
caused by a certain deficiency on any of these proteins such as alpha-(HEXA
gene), beta-(HEXB), and GM2 activator protein (GM2A) which eventually leads to
storage of the ganglioside (the lipid), primarily in the lysosomes of neuronal

the study conducted by Utz, Crutcher, Schneider, Sorgen, & Whitley (2014)
about the biomarkers of central nervous system inflammation in infantile and
juvenile gangliosidosis, it shows that several associated with inflammation
were elevated in the CSF of infantile gangliosidosis patients, and less so in
more slowly progressing forms of juvenile gangliosidosis, but not in MPS
disease. Also, in a related study done by Jarnes Utz, Kim, King, Ziegler,
Schema, Redtree, & Whitley (2017) they were able to map the timeline of
clinical changes evident in patients with infantile gangliosidosis through
prospective evaluation and clinical care. And they have found out that children
ages below 6 months old have hypotonia, children in their first year of age
have severe motor skill impairment while seizures, dysphagia and feeding-tube
placement are experienced by infants below or before of 18 months of age.  


to USNLM (2018), Tay-Sachs disease is very rare in the general population. The
genetic mutations that cause this disease are more common in people of
Ashkenazi (eastern and central European) Jewish heritage than in those with
other backgrounds. It has been said that approximately one in every 27 Jews in
the United States is a carrier of the Tay-Sachs disease gene (NHGRI,

order to accomplish the objective of characterizing and determining the
cognitive status in a sample of individuals with late-onset GM2 gangliosidosis
(commonly referred to as 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 progression. These
patients underwent comprehensive neuropsychological assessment and it came out
that nearly one-half of the sample scored in the impaired range on measures of
processing speed, visual sequencing, and set shifting. One-third of the sample
also scored in the impaired range on measures of delayed verbal recall. After
the series of evaluation, researchers concluded that there is a risk of
impairment in executive functioning and memory as well as cerebellar
dysfunction among patients diagnosed with late-onset GM2 gangliosidosis.

from the neuropsychological assessments and the impairments found in adults
with Tay-Sachs disease (Zaroff, et al., 2004),
most affected infants have nerve damage starting in the mother’s womb (before
birth), with symptoms appearing from age 3 to 6 months. Progression is rapid in
this case, and the child will typically pass away by 4 or 5 years old.
Additional symptoms of Tay-Sachs among infants include: deafness, progressive
blindness, seizure, muscular stiffness, slow growth, and red spot on the macula
(an oval-shaped area near the center of the retina in the eye) (Healthline, 2005). 

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 objectives are to provide an update of the international
experience with carrier screening and prenatal diagnosis for Tay-Sachs disease
(TSD), to assess the impact of these efforts, and to review the recent
developments in DNA technology with application to TSD carrier detection and
screening through setting up Tay-Sachs disease testing centers for annual
assessments and by doing interventions through Gene product screening (enzyme
testing) and DNA-based mutation analysis (in some populations).  


are no available medical cures/remedies for the Tay-Sachs disease but certain
treatments such as keeping the child comfortable or the so called ‘palliative
care’ (Healthline, 2005). Palliative care
may include medication for pain (pain killers) in order to ease or soothe the
pain of these children by sending pain messages back to their brain through the
special nerve endings. Painkilling drugs interfere with these messages, either
at the site of the injury, in the spinal cord or in the brain itself (Science Museum, 2018). However, there are
numbers of unpleasant side effects associated with painkiller abuse. Mild side
effects include nausea, vomiting, and diarrhea, usually caused by the way the
drug interacts with opioid receptors along the digestive tract. You can also
expect random muscle spasms that occur as a result of the nerves reacting at
random to various stimuli (Patterson, 2018).

Other treatments in minimizing or reducing the
negative effects of the Tay-Sachs disease brought to children and even adults
include: anti-epileptics (that are also helpful in controlling seizures),
physical therapy, feeding tubes, and respiratory care to reduce mucus buildup
in the lungs (Healthline, 2005).


            Since Tay-Sachs disease is inherited, there is no way to
prevent it except through screening. An individual can screen for carriers of
the Tay-Sachs disease by doing genetic testing on two parents who are thinking
about starting a family (NHGRI, 2011). Screening for carriers of Tay-Sachs was
started in the 1970s, and has reduced the number of Ashkenazi Jews born with
Tay-Sachs by 90 percent.


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.

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.

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. 


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