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Tay -Sachs Disease

Tay -Sachs Disease. By: Bobby Fitzpatrick And Rudy Blosio Period 8. What is Tay -Sachs Disease?. It’s a rare inherited disorder that results in slow destruction of the central nervous system There are two types of Tay -Sachs: classical Tay -Sachs and Late Onset Tay -Sachs (LOTS).

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Tay -Sachs Disease

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  1. Tay-Sachs Disease By: Bobby Fitzpatrick And Rudy Blosio Period 8

  2. What is Tay-Sachs Disease? • It’s a rare inherited disorder that results in slow destruction of the central nervous system • There are two types of Tay-Sachs: classical Tay-Sachs and Late Onset Tay-Sachs (LOTS)

  3. Classical Tay-Sachs • Classical Tay-Sachs affects infants that range from birth to age 5 • It’s the most common form of Tay-Sachs • This disease occurs when the body produces too little of the enzyme hexosaminidase A (or hex A).

  4. Classical Tay-Sachs Symptoms • Infants with this disorder typically appear normal until the age of 6 months • The baby usually loses nerve function around 6 months. • At two years old the baby starts having seizures and begins to lose skills like crawling, sitting, turning over, and reaching for things • Eventually the child will become blind, paralyzed, and mentally retarded. • Most children with classical Tay-Sachs wont live past age 5.

  5. Late onset Tay-Sachs (LOTS) • Its also a rare genetic disease and is very similar to classical Tay-Sachs • The symptoms start anywhere from adolescence to the their mid 30’s • The life expectancy is unknown, and a person with LOTS may live as long as a person without the disease

  6. LOTS Symptoms • Early symptoms are twitching, poor coordination, weakness, cramping of the muscles, and nasal or slurred speech • Other symptoms include impaired thinking and reasoning ability, such as memory problems, difficulty with comprehension, short attention span, and mood swings

  7. How is Tay-Sachs Inherited? • Tay-Sachs is a recessive trait disease and females can be carriers • About 1 in 250 people are carriers of the disease, but the disease is more common with people of Ashkenazi Jewish descent, and 1 in 27 people are carriers. • People of French-Canadian or Cajun descent are also at a higher risk than the general population

  8. How is it Diagnosed? • It is very hard to diagnose this disease because the symptoms of Tay-Sachs are common in other diseases as well. • It is also hard to diagnose this because the disease usually takes place within infants and they cannot describe how they are feeling. • Doctors do use family history, visual observation and specific testing for a vague diagnosis.

  9. Can It Be Cured or Treated? • There is no current cure for Tay-Sachs disease but there are tests to see the level of Hex-A in the baby. Carriers have ½ as much Hex-A as non carriers. • There are medicines that can help manage the seizures but cannot stop them • Unfortunately there is no cure for the Tay-Sachs disease yet

  10. Works Cited Works Cited Freedman, Jeri. Tay Sachs Disease. New York: Chelsea, 2009. N. pag. Print. "Late-Onset Tay-Sachs Disease." Health.com. Healthwise Incorporated, 25 Mar.      2010. Web. 5 Feb. 2011. <http://www.health.com/health/library/mdp/      0,,ux1245,00.html>. "Tay-Sachs Disease." Genetics Home Refrence. N.p., 30 Jan. 2011. Web. 5 Feb.      2011. <http://ghr.nlm.nih.gov/condition/tay-sachs-disease>. "Tay-Sachs Disease." Human Diseases and Conditions. 3rd ed. 2000. Print. Walker, Julie. Tay-Sachs Disease. New York: Rosen Publishing Group, 2007. N. pag. Print.

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