Tay-Sachs Disease
Emily Henningsen---Human Development 2nd HR.
What is the Defect and its life outlook?
- It is an inherited disorder that destroys nerve cells in the brain and spinal cord.
- children
- die by age 4 or 5
- symptoms get worse
What are the causes and complications?
- A genetic mutation in the HEXA gene
- symptoms occur 3-10 months into birth
- progress to spasticity, seizures, and loss of voluntary movement
What are the ways to Test and Treat the defect?
- blood test before and after baby birth
- chronic villus sampling
- amniocentesis
- No cure
- make living comfortable
- preventing problems with lungs and airways
- relieving eating problems
- medication to help control/relieve symptoms
Citations:
- "Tay-Sachs Disease: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 13 Oct. 2015.
- "Tay-Sachs Disease ." Tay-Sachs Disease. N.p., n.d. Web. 13 Oct. 2015.
- "Tay-Sachs Disease." Genetics Home Reference. N.p., n.d. Web. 13 Oct. 2015.