Genetic Information Tay Sachs is a devastating genetic disease. There are three different forms of the disease- Early Onset which emerges around three to six months of age‚ Juvenile which mainly appears between the ages of two and five but could start anytime in childhood‚ and Late Onset which mostly presents in adolescence or early adulthood but could occur at any time. Tay Sachs is caused by a mutation--a deletion of chromosome 15. The HEX A gene on this chromosome is responsible for creating
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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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Tay-Sachs Disease History: The disease is named for Warren Tay (1843-1927)‚ a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye. It is also named for Bernard Sachs (1858-1944)‚ a New York neurologist whose work several years later provided the first description of the cellular changes in Tay-Sachs disease. Sachs also recognized the familial nature of the disorder‚ and‚ by observing numerous cases‚ he noted that most babies with Tay-Sachs
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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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Section One Paper: Interdisciplinary Teams According to Stille and Antonelli (2004)‚ coordination of care is a critical function of pediatric primary care that may be best delivered using a team approach. Coordination of care is a holistic health care approach that is often delivered by a team of practitioners such as a physician‚ advanced practice nurse‚ school nurse‚ social worker‚ pharmacist‚ nutritionist‚ respiratory therapist‚ and others. Coordination is defined as “the state of being
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Period Honors Biology Mrs. Presley Tay Sachs Disease A mutation (or mutating) is changing a structure of a gene. Tay Sachs disease is a lethal mutation inherited as an autosomal recessive disorder‚ it is also known as Hexosaminidase A deficiency‚ GM2-Gangliosidosis‚ or TSD. Tay Sachs is an extremely tragic disease that has no cure. Tay Sachs was named after and discovered by english ophthalmologist Warren Tay and Jewish-American neurologist Bernard Sachs. Tay and Sach’s development and research
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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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workers and was considered the ultimate educator (Bastable‚ 2014). Nursing educators have always provided educated to patients and their families as well as their colleagues. However‚ the expectation now for nursing educators are to take an interdisciplinary team approach that will provide positive outcomes through effective education that is ongoing which produces a consistently high-quality of care. Learning is complex
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Tay-Sach’s Disease Case Study Stephanie deDianous‚ RN Western Governors University Tay-Sach’s Case Study The purpose of this paper is to discuss the hereditary genetic disease Tay-Sach’s‚ discovered during a pregnancy. The discussion will focus on developing an interdisciplinary team and care plan for the expectant parents based on their wishes. This paper will also cover any ethical and/or legal dilemmas that may arise as well as identify counseling needs of those involved
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