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Tay -Sachs Disease

BY: Zach Kimmel. Tay -Sachs Disease. Tay -Sachs disease. Tay -Sachs disease is a genetic disorder that is fatal in most occurrences. Other Names. TSD GM2 Hexosaminidase Sphingolipidosis.

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Tay -Sachs Disease

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  1. BY: Zach Kimmel Tay-Sachs Disease

  2. Tay-Sachs disease Tay-Sachs disease is a genetic disorder that is fatal in most occurrences.

  3. Other Names • TSD • GM2 • Hexosaminidase • Sphingolipidosis

  4. Was a British ophthalmologist who in 1881 first described the red spot on the retina of the eye, which is present in Tay-Sachs Disease. Warren Tay

  5. TSD is caused by a genetic mutation in HEXA gene on chromosome 15. This Disease is most common in Jews. Above is the strand of genes were the mutation occurs.

  6. There is a distinct red spot in the eye of a patient with Tay-Sachs Disease. To the right is a diagram of how two parents pass on the trait for the disease. Symptoms/ How the disease is passed on

  7. Infantile TSD • Juvenile TSD • Adult/Late Onset TSD Types of Tay-Sachs

  8. Infants appear to develop normally for the first six months of life. Then, as nerve cells become distended a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow, and paralysis sets in. Death usually occurs before the age of 4 or 5. Infantile TSD

  9. Extremely rare, Juvenile Tay-Sachs disease usually occurs in children between 2 and 10 years of age. They develop, speech difficulties swallowing difficulties, and unsteadiness. Patients with Juvenile TSD usually die between 5–15 years. Juvenile TSD

  10. It occurs in patients in their 20s and early 30s it is frequently misdiagnosed, and is usually non-fatal. Patients frequently become full-time wheelchair users in adulthood, but many live full adult lives. Psychiatric symptoms and seizures can be controlled with medications. This form of TSD is very, very rare. Adult/ Late Onset TSD

  11. There is no real cure for this disease, but there are many steps to preventing the disease. You can have a mate selection test to see if your are and your partner are carriers for the disease, and there is also a process to test the mother’s egg to test for the disease. Prevention/Cure

  12. http://en.wikipedia.org/wiki/Tay-Sachs http://organizedwisdom.com/Adult_Onset_Tay-Sachs_Disease http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm http://kidshealth.org/parent/medical/genetic/tay_sachs.html Works Cited

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