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TaySachs

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The condition is caused by insufficient activity of an enzyme called beta ... There is no cure or treatment to date that will prevent the disease from running ... – PowerPoint PPT presentation

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Title: TaySachs


1
Tay-Sachs
2
Definition
  • Tay-Sachs disease is a rare inherited disorder
    that causes progressive destruction of nerve
    cells in the brain and spinal cord (the central
    nervous system

3
Causes and risk Factors
  • risk Factors
  • The genetic mutations that cause this disease
    are more common in people of Ashkenazi (eastern
    and central European) Jewish heritage than in
    those with other backgrounds

4
  • Causes
  • Tay-Sachs disease is a fatal genetic lipid
    storage disorder in which harmful quantities of a
    fatty substance called ganglioside GM2 build up
    in tissues and nerve cells in the brain. The
    condition is caused by insufficient activity of
    an enzyme called beta-hexosaminidase A that
    catalyzes the biodegradation of acidic fatty
    materials known as gangliosides. Gangliosides are
    made and biodegraded rapidly in early life as the
    brain develops

5
  • Symptoms
  • The symptoms first appear at about the age of
    six months when an apparently healthy, happy baby
    stops smiling, crawling or tuning over, loses the
    ability to grasp or reach out, and gradually
    becomes blind, paralyzed and unaware of the
    surrounding world.

6
  • Treatment
  • There is no cure or treatment to date that
    will prevent the disease from running its fatal
    course. Affected children can only be made as
    comfortable as possible

7
  • Prevention
  • Prenatal diagnosis
  • selective abortion
  • Mate selection

8
Questions
  • Tay-Sachs disease is Effecting to the central
    nervous system
  • There is no cure or treatment to date that will
    prevent Tay-Sachs from running its fatal course
    true/false
  • Tay-Sachs is transmitting through genetic
    mutations
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