Tay Sachs Research Paper

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Tay-Sachs is a rare, inherited, metabolic disease that is caused by a defective gene on chromosome 15. This defect causes the body to not make a protein called hexosaminidase which leads to chemicals building up. These chemicals destroy the nerve cells in the brain and the spinal cord. Tay-Sachs is also called GM2 gangliosidosis, HexA deficiency, Hexosaminidase A deficiency, and Hexosaminidase alpha-subunit deficiency. Tay-Sachs is most common in infants and children. It is also typically found in people with certain ancestry such as people of Ashkenazi Jewish heritage and people of Cajun heritage. Some people may have the genetic mutation but not get the disease. Common symptoms of Tay-Sachs include muscle weakness, stiff muscles, loss of muscle coordination, muscle contractions, fainting, speech problems, and mental illness. Blindness, difficulty swallowing, hearing loss, seizures, vision loss, and impaired voice are other symptoms that are common. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is also characteristic of this disorder. Infants can lose motor skills such as crawling, sitting, or turning over. There is a milder form of Tay-Sachs called late-onset Tay-Sachs which causes muscle weakness and …show more content…

Children can take medications such as seizure or pain medication to reduce symptoms. They can also go through chest physiotherapy to reduce mucus in their lungs to reduce the risk of lung infection resulting from Tay-Sachs. Doctors may recommend a nasogastric tube or surgically insert an esophagogastrostomy tube if the child with Tay-Sachs has trouble eating. To help with muscle weakness, coordination, and stiffness, children with Tay-Sachs can go through physical therapy. Physical therapy can keep the joints flexible and maintain as large of range of motion as

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