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Copy of Tay-Sachs

Published on Nov 18, 2015

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PRESENTATION OUTLINE

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TAY-SACHS

LANEY BROWN
Photo by Hey Paul Studios
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WHAT IS TAY-SACHS?

  • A rare inherited disease that progressively destroys nerve cells in the brain
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SIGNS & SYMPTOMS

  • No symptoms for first couple of months
  • 3-6 mo.: muscle weakness & spasms
  • 6-10 mo.: loss of motor skills, decreased eye movement, cherry-red eye spot
  • 10-12 mo.: blindness, deafness, seizures
  • 2 years: difficulty swallowing, head size growth, vegetative state
  • Death by age of 4
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Cherry-red eye spot seem on eye exams

5.

CAUSE

  • Chromosome 15
  • Mutation on the Hex-A gene which is responsible for the enzyme hexosaminidase
  • Without this enzyme, fatty substances called GM2 ganglioside reach toxic levels which leads to the destruction of neurons
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Untitled Slide

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INHERITANCE

  • Autosomal recessive
  • Both parents must carry the trait for child to have the disease
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PREVALENCE

  • 1 in 360,000 of the general population (0.000278%)
  • Most common among Ashkenazi Jews, Cajuns, French Canadians, and the Irish
  • 1 in 27 Jewish people are carriers
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PROGNOSIS

  • No current treatment
  • Death by age 4 from reoccurring infection, most often pneumonia
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SOURCES

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SOURCES CONT.

Laney Brown