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Tay-Sachs Disease

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PRESENTATION OUTLINE

GROUP MEMBERS

  • Hayden Nelson
  • Carter Ahrens
  • Damian Meyer-Andre
Photo by atomicshark

GENETIC DISORDER

  • Tay-Sachs Disease
  • Also GM2 gangliosidosis

CHROMOSOME

  • Chromosome 15 which means it is autosomal
  • The cause is genetic mutation in the HEXA gene
  • This disease is inherited
Photo by meltsley

SIGNS/SYMPTOMS

  • Deafness
  • Blindness
  • Muscle weakness
  • Seizures
  • Difficulty swallowing
  • Slow growth
Photo by annszyp

POPULATION

  • Eastern European Jewish descent
  • Approximately one in every 27 Jews is a Tay-Sachs carrier.
  • Not expected to live past 13
  • Can't see, hear,and have difficulty swallowing

TREATMENTS

  • It can usually be confirmed by a blood sample and extracting DNA from it to check for the HEXA mutation.
  • It can't be cured,but treatment may help
Photo by Connor Tarter

TREATMENTS THAT HELP

  • Medication:to reduce your child's symptoms
  • Respiratory care:reducing the mucus
  • Feeding tubes: Your child may develop respiratory problems by inhaling food or liquid into the lungs while eating,your doctor may recommend an assistive feeding device such as a nasogastric tube, which is inserted through your child's nose and goes to your
Photo by Connor Tarter

FUTURE TREATMENTS

  • Enzyme replacement therapy:
  • Substrate reduction therapy