Contemporary Nursing Issues Taskstream 724.2.5-03-04‚ 07-08‚ 2.6-01-09 Tay - Sachs disease Cherilyn Mitchell Western Governors University In reading this case study and other articles online‚ I find this a heartbreaking disease and am thankful that I have had the healthy children that I have. There are several key interdisciplinary members that I would place on the team for this family. I would utilize an obstetrician‚ geneticist‚ social worker and clergyman or priest. I feel there are many
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Creative Title: Tay-Sachs‚ the saddest of diseases Introduction: Tay-Sachs disease (TSD) is a genetic condition affecting male and female infants. The life expectancy of children with TSD is just 3-4 years old. Unfortunately‚ it is always fatal and there no known cure. What is the cause of the disease and how is it inherited? Tay-Sachs disease is hereditary‚ meaning it is inherited from family members. TSD is the result of an autosomal recessive gene‚ meaning‚ meaning that two copies of an abnormal
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Tay-Sachs Disease Tay-Sachs disease is a rare inherited autosomal recessive disorder first discovered in 1881. It is a disease that is found in many populations‚ but commonly affects the populations of the Ashkenazi Jews. The disorder is caused when there is an absence of enzyme called beta hexosaminase A that is found on chromosome 15. The most common mutation occurs in mostly 80 percent of Tay-Sachs patients is the four base pair addition (TATC) on exon 11 and a G to C inversion
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A rare and fatal disease‚ Tay-Sachs is characterized as one of the devastating neurodegenerative disease. Children afflicted with Tay-Sachs “lose motor skills and mental functions” eventually becoming “blind‚ deaf‚ mentally retarded‚ paralyzed...Tay-Sachs children usually die by age five” (“Tay-Sachs Disease”). A diagnosis of infantile Tay-Sachs is akin to a death sentence; the only form of care would be comfort for death. Tay-Sachs is passed on genetically from parent to child and‚ as it is an autosomal
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Tay-Sachs The disease Tay-Sachs was discovered by two men‚ the first one was a British ophthalmologist named Warren Tay who described the disease in 1881. The second one was a New York neurologist named Bernard Sachs who described the cellular changes and the genetic nature of the disease in 1887. Tay-Sachs is a rare disorder where a child who inherits the gene from both parents Specialists claim that Tay-Sachs disease is developed by children who lack a protein that is necessary to dissolve a fatty
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Tay-Sachs disease is an autosomal recessive disease that affects the lysosome storage in cells. Over time‚ the disease deteriorates the functions of the body leading to blindness‚ deafness‚ dementia‚ and recurrent convulsions in the terminal stages. Unfortunately‚ its main victims are children‚ who often show the first signs and symptoms at around 6 months old and usually do not live past the age of 5. There is also a juvenile and late-onset form that may not appear until the second or third decade
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Tay Sachs Disease Tay Sachs disease is caused by the homozygous recessive gene on chromosome 15 that codes for the lack of production of hexosaminidase-A (Hex-A) [1]. Since there is no HexA‚ a fatty substance is allowed build up abnormally in nerve cells‚ which damages the cells and the brain [1]. Males and females are equally likely to carry this recessive gene but the heterozygous gene carriers are not affected‚ because they still have the dominant gene [2]. If both parents have the heterozygous
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Tay-Sachs is a devastating disease affecting lysosomal storage. According to McCance & Huether (2014)‚ it is due to a deficiency in the lysosomal enzyme hexosaminidates A (HexA) that’s function is to degrade GM2 gangliosides (fatty acids) in nerve cells. Those diagnosed with Tay-Sachs do not have the ability to degrade this fatty acid and as a result‚ it builds up in the body causing nerve cell toxicity. It is genetically inherited through an autosomal recessive pattern meaning that both parents
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What is Tay-Sachs Disease? Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Infants with Tay-Sachs disease
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1) Tay Sachs disease is one of many lysosomal storage diseases‚ this is caused by the lysosomes inability to produce certain enzymes needed to breakdown macromolecules. In Tay Sachs‚ the lysosome is unable to produce the enzyme beta-hexosaminidase A‚ which breaks down gangliosides within brain cells. Tay Sachs predominantly affects infants‚ and unfortunately there is no cure‚ symptoms include seizures‚ deafness‚ progressive blindness‚ and muscle stiffness. Gaucher disease is caused by the inability
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