Tay- Sach

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Tay- Sachs
Presented and Made By Miriam Orr, Rachael B.,
and Thao Nguyen
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Pedigree for Tay Sachs Disease!!
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Type of Genetic Disorder

• Autosomal recessive
• On chromosome 15
• 3 types- Infantile, Juvenile, Late Onset

How is it inherited??

• Passed from previous generations
• Dont have Hex- A enzyme (used for breaking down
  fatty substances in the brain)

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How is it Diagnosed??

• Tay Sachs blood test aka carrier screening
• Possible to test fetus
• Can usually be made by looking into the babys
  eyes. If a baby has cherry red spot at the back
  of the eye then it is a sign for Tay Sachs
• To confirm if the baby has Tay Sachs they do
  blood work to see if the measure of enzyme needed
  to break down gangliosides, if low then the baby
  has Tay Sachs

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Symptoms

• Seizures
• Noticeable behavior changes, such as baby stops
  smiling, crawling or rolling over and loses the
  ability to grasp or reach out
• Increased startle reaction
• Decreased eye contact
• Increased irritability
• Large head with slow body development
• Delayed social and mental skills
• Develops blindness, deafness, and an inability to
  swallow

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Treatment Current Research

• There is no cure for Tay Sachs
• Gene Therapy is known to delay it
• Currently being researched
• stem cell transplantation involving an umbilical
  cord
• therapeutic options

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Life Expectancy

• For Infantile
• Lives until reaches ages 4- 5
• most severe of the three types
• Juvenile
• Late- Onset
• Life is normal length

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Genetic Counseling
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Graphics
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Cooper

• What did you first notice that was
  different?Were his symptoms rapid or slow at
  first?Where and when did you take him to for
  testing?How long was it before he was
  paralyzed?How long did the symptoms last until
  he passed?

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Works Cited

• http//www.mayoclinic.org/tay-sachs-disease/sympto
  ms.html
• http//www.faqs.org/health/Sick-V4/Tay-Sachs-Disea
  se.html
• http//img.search.com/thumb/b/b3/Autorecessive_tay
  _sachs.gif/350px-Autorecessive_tay_sachs.gif
• http//www.ntsad.org/
• http//www.tay-sachs.org/taysachs.php
• http//www.ninds.nih.gov/disorders/taysachs/taysac
  hs.htmWhat_is
• http//www.sfn.org/index.cfm?pagenamebrainBriefin
  gs_TreatingTaySachs
• http//www.caringbridge.org/cb/photoMainView.do