Tay - Sachs Disease

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Tay-Sachs is a sporadic genetically inherited circumstance that occurs once in each three hundred and sixty thousand births. According to Edelson, the disorder has various types which can affect people of all ages; infants, adolescents, or even adults, however, it is extra severe in infants. Tay-Sachs disorder leads to destruction of the Genius and spinal nerve cells. Edelson cites Dr. Warren Tay as the first scientist to characterize the disorder in 1881 and later, Dr. Bernard Sachs who comprehensively described the disease during his encounter with affected siblings. Since then, there has been chronic discoveries and extensive research on Tay-Sachs disease. This paper objectives to discuss the etiology, diagnosis, symptoms, possible treatments, and preventative mechanisms of Tay-Sachs disease.
The disorder results from gene mutation, which subsequently results in deterioration of normal functioning of related body organs (Edelson, 1997). The mechanism underlying loss of normal functioning of a body according to Edelson, involves loss or absence of a degradative protein, specifically an enzyme, which leads to a buildup of waste products. Over time, the waste products decimate the normal functioning of an organ. In Tay-Sachs disorder, scientists have identified Hexosaminidase A (Hex A) to be the associated enzyme that undergoes mutation. A defective gene on Hex A deprives the body that ability to synthesize the enzyme. The absence of the Hex A enzyme allows accumulation of chemicals known as gangliosides in the nerve cells thus leading to the destruction of the organs, such as the brain (Jacobs, Willemsen, Groot-Loonen, Wevers, & Hoogerbrugge, 2005).
Tay-Sachs disease has diverse symptoms. According to Edelson (1997), the symptoms begin to show at the age of 3-6 months in infants, which include muscle weakness leading to reduced ability of the baby to crawl, sit or even turn while asleep. Affected children barely it to 5 years of age. In severe cases, muscle function is lost altogether leading to a state of paralysis. Other symptoms include blindness, deafness, seizures, and delayed mental and general developmental growth. Also, eyes may obtain red spots in the macula, which is a sign of the Tay-Sachs condition (Herndon, 2016). In teenagers and adults, the symptoms include muscle fragility, speech problems, memory loss, and loss of balance while walking (Herndon, 2016).
Diagnosis of Tay-Sachs disease is mainly made through blood tests to check for the average production of Hex A enzyme. The samples are tested for the presence of mutations in chromosome 15, primarily responsible for the formation of the enzyme, through DNA extraction. Through the blood tests, it is possible to identify individuals suffering from the disorder, as well as carriers of the disease (Edelson, 1997). Carriers show a heterozygous form of the gene where half the number of Hex A is defective while the other half is regular.
There exists no specific treatment for the Tay-Sachs disorder (Jacobs, Willemsen, Groot-Loonen, Wevers, & Hoogerbrugge, 2005). Once affected, only “palliative care” can ensure to mitigate the state of the patient (Herndon, 2016). Some of the mitigating strategies include making the life a patient as comfortable as possible by reducing the pain they are undergoing, controlling seizures, and performing physical therapy, which somehow rejuvenates the motor skills (Herndon, 2016). Since Tay-Sachs disorder is genetical, it can only be prevented through screening, a critical mechanism for couples planning to start families. It is not advisable for a carrier to marry a carrier as it increases the chances of getting a baby with the condition. (Edelson, 1997).
To conclude, Tay-Sachs disease is a rare genetical condition, caused by gene mutation and has no cure. Major symptoms include muscle fragility, speech problems, memory loss, and loss of balance diagnosed through blood tests. The infants affected barely make it to five years; therefore people who want to start a family are highly advised to undergo screening which is the only preventive measure.

Works Cited

Edelson, Paul J. The Tay-Sachs disease screening program in the U.S. as a model for the control of genetic disease: an historical view. Journal of Law-Medicine, 1997; 7 (1)

Herndon, Jaime. Tay-Sachs Disease. 2016. Web. URL: http://www.healthline.com/health/tay-sachs-disease#overview1

Jacobs, J. F. M., Willemsen, M. A. A. P., Groot-Loonen, J. J., Wevers, R. A., & Hoogerbrugge, P. M. (2005). Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease. Bone marrow transplantation, 36(10), 925-925.

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