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-hexosaminidase A, the enzyme that breaks down GM2 ganglioside, which is normally degraded during the early brain development. Accumulation of this fatty substance causes the distention and eventual destruction of neurons (http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm, 2007). Pattern of Inheritance The pattern of inheritance of Tay-Sachs disease is autosomal recessive, in which case the individual should have both recessive alleles to manifest the symptoms of the disease. Moreover, because it is autosomal, the disease does not differentiate between sexes. An individual with Tay-Sachs disease is conceived if both parents are carriers (heterozygous) of the gene. It must be noted that homozygous recessive parents are not possible because individuals with Tay-Sachs disease, as elaborately discussed in the next section, are unable to do motor functions as basic as walking and swallowing. Carrier parents thus have a 25% chance of having a child with Tay-Sachs disease per conception. In addition, they have 50% chance of conceiving carriers, and 25% chance of having a child that do not have a recessive allele. Detection of symptomatic and supposedly homozygous recessive individuals may be determined in prenatal tests or by assaying ?-hexosaminidase A activity. In the case of Rita and Peter, their family medical history presents a strong evidence of autosomal diseases in both families. Rita has a history of one uncle dying at an early age, and Peter had an uncle and an aunt who died at a young age. Although these past cases were undiagnosed, they were all probably Tay-Sachs disease. B. Symptomatology There are many forms of this disease, depending on what age the symptoms manifest. The signs and symptoms of the infantile form become initially apparent during infancy, specifically at age 3 to 6 months, wherein there is marked weakening of the muscles and protracted development by the inability to turn over, sit or crawl after an apparent normal development. In addition, they have an increased startle reaction to loud noises, which is one of the primitive reflexes of humans. As the disease progresses, other neural degenerative signs including seizures, intellectual disabilities and paralysis begin to manifest. As well, the sensorium is also affected. Individuals with Tay-Sachs disease become blind, deaf, and unable to swallow. These patients are prone to respiratory infection because they are unable to clear their throats of the accumulating bacteria-filled mucus. Babies with this form of the disease live only until their early childhood, 4 years at best. (http://www.nlm.nih.gov/medlineplus/taysachsdisease.html, 2011). Other forms, which become apparent at childhood, adolescence or adulthood, are milder compared to the infantile form. In these cases, the individual presents with muscle weakness, ataxia, speech problems, and progressively deteriorating intellectual capacity (http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm, 2007). II. Misconceptions The reactions of Rita and Peter were common among those receiving news about the poor prognosis of a family member’s health condition. Rita, wallowed with guilt, blames herself even if the disease is inherited. Peter, on the other hand, is in denial of his child’s condition. It is thus vital for the nurse-in-charge to empathize with the couple. Moreover, it is important to provide adequate information about the disease, so that these ...Show more
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Summary

MULTIDISCIPLINARY APPROACH ON GENETIC DISEASES: TAY-SACHS DISEASE I. Nature of Tay-Sachs Disease Tay-Sach Disease is a condition in which the neurons progressively degenerate. Fatty substances abnormally accumulate in neurons. Motor and sensory functions are thus affected by this disease…
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