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Tay Sachs

Tay Sachs. By: Atley Gaynor. Disease Characteristics. Deteriation, begins if infants have T ay S achs, of the mental and physical abilities Becomes blind, deaf, not able to swallow or may even get all of these

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Tay Sachs

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  1. Tay Sachs By: Atley Gaynor

  2. Disease Characteristics • Deteriation, begins if infants have Tay Sachs, of the mental and physical abilities • Becomes blind, deaf, not able to swallow or may even get all of these • Muscle begin to decrease in size of an organ and won’t be able to move body parts very well • Red spots in the eyes • Problems in the brain include dementia(mental deteriation of organic or functional origin), seizures, and an increased startle reflex to noise

  3. Dominant or Recessive??? • Recessive • Both parents must carry the gene for them to have an affected child • There’s a 25% chance in every birth that the child will be affected by Tay Sachs disease

  4. Transmitted By… • Both parents give the gene for Tay Sachs • When the parents are both carriers for the disease there’s a 50% chance that the child will be a carrier, but not have the disease, 25% chance that the child won’t be a carrier and not have the disease, and a 25% chance that the child will have the disease

  5. When Discovered • This disease can be discovered by a blood test that measures beta hexosaminidase • Beta Hexosaminidase is an enzyme involved in the hydrolysis of terminal N-acetyl-D-hexosamine residues in N-acetyl-β-D-hexosaminides. • This disease was discovered in the family of Rabbi Josef Ekstein

  6. Treatment Available • At this point in time there are no treatments available • There are medicines to help reduce side affects but, other than that there are no treatments available

  7. Fatality Rates • Every year usually 16 cases of Tay Sachs are diagnosed in the U.S.A. • Throughout eastern Europe Ashkenazi Jews 1 in 27 people are carriers

  8. Age Appears • The disease kicks in usually when the child is an infant and if so usually dies by age 5. • If a mother is wondering if her baby is going to have taysachs disease, while it’s still in the mother’s stomach, she can have tests taken and can be taken around the first 10-18 weeks of pregnancy

  9. Other Interesting Facts… • Other affects of taysachs: deafness, blindness, loss of muscle strength, slow mental and social skills, can get irritable, seizures, and slow growth • A baby with taysachs is born with out the important enzyme- hexosaminidase

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