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TaySachs TaySachs is a disease in which babies are born without one of the most important enzymes, Hexosaminidase A (Hex A.) Healthy babies develop vision, movement, hearing, and other vital functions in part because enzymes clear out fatty protein and other unwanted material that can interfere with growth. Now these babies born without the Hex A enzyme affect the baby because the fatty proteins just keep building up in the brain and affect the baby’s sight, hearing, movement, and mental development. Affects Infancy onset One of the dangers with Infants with Tay-Sachs disease Is that infants appear to develop normally for the first few months of their lives. Then, as the babies nerve cells become covered with fatty material, a relentless deterioration of physical and mental abilities sets in. As the disease worsens the child’s vision deteriorates until complete blindness occurs, deaf, and unable to swallow. Muscles begin to stiffen and paralysis sets in. However,TaySachs can be identified by a simple blood test that measure beta-hexosamindase A activity. In order to for this to occur both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with TaySachs disease. Prenatal diagnosis is available if desired. Adult onset From 20 to early thirties a much rarer form of the disorder occurs and is characteriazed by an unsteady gait and progressive neurological deterioration. Another indication , persons with TaySachs have “cherry-red” spots in their eyes. Treatment Presently there is no treatment for TaySachs disease. However anticonvulsant medicine may intitially control seizures. Other supportive treatment includes proper nutrition and hydration and other techniques to keep their airway open. Children may eventually need a feeding tube. References Dictionary of Eye Terminology 5th Ed., Barbara Cassin and Melin L. Rubin, MD, Editor, 2006. Gainesville: FL, pg 259 Tay-Sachs. (n.d.) Retrived July 12, 2010, from http://kidshealth.org/parent/medical/genetic/tay_sachs.html# Tay-Sachs. (n.d.) Retrived July 12, 2010, from http://www.marchofdimes.com/pnhec/4439_1227.asphttp://www.marchofdimes.com/pnh ec/4439_1227.asp Tay-Sachs. (n.d.) Retrived July 12, 2010, from http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm#Is_there_any treatment Tay-Sachs. (n.d.) July 12, 2010, from TSBVI Web site: http://www.tsbvi.edu/Education/anomalies/Tay-Sachs.htm
