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Tay-Sachs Disease Done by;; Shaquawn Marsalis && Shannon Robinson. Where did Tay-Sachs come from && What is it?. The disease Tay-Sachs was named after Warren Tay [1843-1927] and Bernard Sachs[1858-1944]. Tay-Sachs is a fatal, yet recessive genetic disorder in children.
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Tay-Sachs DiseaseDone by;;Shaquawn Marsalis&&Shannon Robinson
Where did Tay-Sachs come from && What is it? • The disease Tay-Sachs was named after Warren Tay [1843-1927] and Bernard Sachs[1858-1944]. • Tay-Sachs is a fatal, yet recessive genetic disorder in children. • Tay-Sachs causes progressive destructions of the central nervous system.
What causes Tay-Sachs? • Tay-Sachs is caused by the absence of the vital enzyme called hexosaminidase. • Hexosaminidase is also known as Hex-A. • Ganglioside is also known as GM2. • Without Hex-A the fatty substance GM2 accumulates abnormally in cells, especially in the nerve cells of the brain.
Mutation Plan • Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase which prevents the enzyme from breaking down GM2. • This substance accumulates to toxic levels, which particularly damages the neurons in the brain and spinal cord.
Population • Tay-Sachs occurs significantly high in persons of eastern European (Ashkenazi) Jewish descent. About one in every 27 Jews in the United States is a carrier of the Tay-Sachs' gene.
What is body part is affected and what is the normal function? • Your brain and spinal cord is what is affected. • The normal function is when the space around your spinal cord and brain is covered with a fatty material.
Symptoms • Seizures • Increased startle reaction • Decreased eye contact • Listlessness • Increasing irritability • Slow body growth with increasing head size • Delayed mental and social skills • The More Severe Symptoms • Feeding difficulties • Abnormal body tone • Loss of motor skills • Blindness • Deafness • Loss of intellectual skills
Treatment • There is no Treatment • For tay-sachs
Diagnosis • Apparent in the late 1st year of the babies life if he/she doesn’t start to respond and act like a maturing baby.
References http://www.mayoclinic.org/tay-sachs-disease/symptoms.html http://ghr.nlm.nih.gov/condition=taysachsdisease http://www.mamashealth.com/tay.asp