Tay-Sachs Disease Analysis
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 are carriers of the disease (“Tay-Sachs,” n.d.). One can be a carrier of the gene but not necessarily show symptoms. The disease is common amongst, “French Canadians, Louisiana Cajuns, and Ashkenazi Jews” all of which have a carrier rate of 1 per 27
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(McCance & Huether, 2014, p. 674). Genetic testing is available to determine if both the mother and father are carriers of the disease. A blood sample is drawn to determine the amount of Hex-A in the blood. “Carriers have less Hex-A in their body fluid and cells than non-carriers” (“Learning About,” n.d.).
Eventually, when the buildup occurs the neurons will suffer from toxicity.
This happens fairly quickly as children usually start to have symptoms at three to six months of age (McCance & Huether, 2014). “With time, neurons become distorted and balloon, and microglial cells, which also are swollen and filled with large granules, proliferate” (McCance & Huether, 2014, p. 674). The brain will then start to atrophy and neurons will die. The spinal cord’s motor cells will start to change resulting in hypotonia, hyporeflexia, and weakness (McCance & Huether, 2014). Parents may notice that their baby is not reaching important developmental milestones such as rolling over or crawling. Other pathological symptoms include, seizures, increased startle reflex in babies, hearing and vision loss, paralysis, and decreased intellectual ability (“Learning About,” n.d.).
This disease currently has no beneficial clinical therapy as the child usually dies by the age of five (McCance & Huether, 2014). Palliative care with a key emphasis on comfort seems to be the only treatment with this disease. At the minimal chance that a person with this devastating disease was to live longer into adulthood then treatment would merely be aimed at minimizing symptoms. However, signs and symptoms can appear later “in childhood, adolescence or adulthood and are usually milder than those seen with the infantile form” (“Tay-Sachs,”
n.d.). One particular defining characteristic is the cherry red spot commonly found on an eye exam (“Tay-Sachs,” n.d.). It is necessary to rule out suspected eye trauma in a child and perform a genetic blood test to confirm a diagnosis of Tay-Sachs. Educating parents on the importance of genetic testing prior to conceiving a child if they are of Jewish heritage, French Canadian, and Louisiana Cajuns, commonly known as French colonists. Adopting is a healthy alternative if parents are carriers of the genetic disease themselves.
(McCance & Huether, 2014, p. 674). Genetic testing is available to determine if both the mother and father are carriers of the disease. A blood sample is drawn to determine the amount of Hex-A in the blood. “Carriers have less Hex-A in their body fluid and cells than non-carriers” (“Learning About,” n.d.).
Eventually, when the buildup occurs the neurons will suffer from toxicity.
This happens fairly quickly as children usually start to have symptoms at three to six months of age (McCance & Huether, 2014). “With time, neurons become distorted and balloon, and microglial cells, which also are swollen and filled with large granules, proliferate” (McCance & Huether, 2014, p. 674). The brain will then start to atrophy and neurons will die. The spinal cord’s motor cells will start to change resulting in hypotonia, hyporeflexia, and weakness (McCance & Huether, 2014). Parents may notice that their baby is not reaching important developmental milestones such as rolling over or crawling. Other pathological symptoms include, seizures, increased startle reflex in babies, hearing and vision loss, paralysis, and decreased intellectual ability (“Learning About,” n.d.).
This disease currently has no beneficial clinical therapy as the child usually dies by the age of five (McCance & Huether, 2014). Palliative care with a key emphasis on comfort seems to be the only treatment with this disease. At the minimal chance that a person with this devastating disease was to live longer into adulthood then treatment would merely be aimed at minimizing symptoms. However, signs and symptoms can appear later “in childhood, adolescence or adulthood and are usually milder than those seen with the infantile form” (“Tay-Sachs,”
n.d.). One particular defining characteristic is the cherry red spot commonly found on an eye exam (“Tay-Sachs,” n.d.). It is necessary to rule out suspected eye trauma in a child and perform a genetic blood test to confirm a diagnosis of Tay-Sachs. Educating parents on the importance of genetic testing prior to conceiving a child if they are of Jewish heritage, French Canadian, and Louisiana Cajuns, commonly known as French colonists. Adopting is a healthy alternative if parents are carriers of the genetic disease themselves.