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Tay-Sachs

 

By Mahmood, Gerti, and Howard

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             What is Tay-Sachs?

Tay-Sachs is a disease that sometimes affects infants. When it the disease takes hold, the infants stay normal from 3 to 6 months. Then, the baby's development starts to slow down and muscle movement starts weaken. The baby's that contract this disease usually live up to the age of five. The disease is most commonly found in Ashkenazi Jews, Cajuns, and French Canadians.

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                Identification/Diagnosis

Tay-Sachs is identified as a mutation in the Hexa gene and the disease is recessive. The diagnosis begins with a full physical exam. Then the parents are asked about the history of any diseases the family had. Part of the physical exam is checking the patients eye. A  sign that the patient has Tay-Sachs is that there will be a "red" spot in the back of the eye.

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           Symptoms of Tay-Sachs

  • Early
    • Seizures
    • Slower mentally and socially
    • Delayed growth and increasing head size
    • Less eye contact
    • More irritable 
  • Later 
    • loss of motor skills
    • Blindness
    • Deafness
    • Abnormal body tone
    • Difficulty eating

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History of Tay-Sachs

    The reason this disease is called Tay-Sachs is because of its founders. Two men were the first to discover the disease. One was named Bernard Sachs, and the other, Warren Tay. Warren Tay was an ophthalmologist. Bernard was the one who described the neurology of this genetic disorder. The NTASD (National Tay-Sachs and Allied Diseases Association) formed in 1965. Many parents were worried about their children, so they united. In 1996, The NTASD debuted on the web.That is the history of Tay-Sachs disease.

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                  Stats/Genetic cause

If both parents are carriers, then there is a 25% chance of the child inheriting the disease. Half of the children are expected to carry the trait as well. 1/4 of the children will be completely unaffected.

 

In the worst case, 1/27 children will catch the disease. Only 1/150 children receive autism. At best, only 1/250 kids will have the disease. Tay-Sachs occurs when there is a mutation in the Hex A gene and it is a recessive gene.

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                   Fetal Diagnosis

Mothers can have their children diagnosed for Tay-Sachs while the baby is still in the womb. If the Hex A is detected then the baby does not have Tay-Sachs. If the Hex A gene is not detected then the baby is diagnosed with Tay-Sachs. The Hex A is an enzyme that everybody has which came from the Hexa gene.

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       Interesting facts

  • It kills 100% of the kids it affects
  • 1/27 Ashkenazi jewish people have a chance to get it
  • 1/250 is the general population
  • It affects kids from ages 6 months to 4 years
  • Kids that have Tay-Sachs dont Have a Hex A enzyme. this enzyme makes sure fatty substances dont build up and without it fat builds up and destroys nerve cells.
  • It is named after Warren Tay and Bernard Sachs

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Credits:

Presentation on Tay-sachs by Gerti, Howard, Mahmood.