Introduction into Tay-Sachs

Tay-Sachs is a rare and fatal genetic disease that could cause death at a really early age. Generally symptoms of the most common form, Classic Infantile Tay-Sachs, don't occur until about 3 to 6 months after the birth of a child, but once it reaches this age, symptoms quickly appear and in only a few years, the end result is death by the time they are about 5. The genetic reason of this disease because of a lack of an enzyme known as Hexosaminidase A (or Hex A), which. Without the enzyme, the lipid GM2 ganglioside accumulates at a abnormally rate, progressively damaging cells.

This was discovered by a few people. Warren Tay was the one that discovered a cherry spot on the retina in 1881, which is another sign of Tay-Sachs. Bernard Sachs gave the first description cellular change. The missing enzyme causing this disease was discovered by Dr. Shintaro Okada and Dr. John S. O'Brien

Common symptoms include: ability to hear, see or move is lost, smiling, crawling, turning over and reaching out stops. Basically, it stops/rewinds the development of a baby's growth. As of now, there aren't any treatments, but scientists has been trying different ways in hopes of a treatment. For the time being, there is therapy to alleviate some of the pain.

This is important because this disease limits how long a child (Classic Infantile) would actually live without it. It also leaves the family devastated for not only having their own child die, but at that young of an age.

http://www.genome.gov/10001220

http://www.ntsad.org
CRS - Pediatric Advisor. 2013, p1-1. 1p. Author: RelayHealth