Anya Stehr
Feb 13, 2025
What is the genetic disorder Tay-Sachs?
Hi members,
I have a question about the genetic disorder Tay-Sachs. Could someone please provide more information about it? I would appreciate a quick response. Thanks!
1 Answers
Feb 13, 2025
Not Medical Advice: Tay-Sachs, as explained by the National Tay-Sachs & Allied Diseases Association of Delaware Valley, is an inherited disease that occurs only when both parents carry the Tay-Sachs gene and each parent transmits the defective gene to their child. Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A).
Hex-A is necessary for the body to break down a fatty waste substance found in brain cells. Without Hex-A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life.
A baby with Tay-Sachs disease appears healthy at birth and seems to develop normally for a few months. Symptoms generally appear by six months of age.
While symptoms vary from one child to the next, there is always a slowing down of development. Gradually, children with Tay-Sachs lose motor skills and mental functions. Over time, the child becomes blind, deaf, developmentally delayed, paralyzed, and non-responsive to the environment. Children with Tay-Sachs usually die by age five.
Tay-Sachs carriers are found most frequently among families of Eastern European Jewish descent (Ashkenazi Jews). In the United States today, approximately one in every 27 Jews is a Tay-Sachs carrier.
The blood test for Tay-Sachs, referred to as carrier screening, identifies carriers and non-carriers.
To learn more, visit the National Tay-Sachs & Allied Diseases Association of Delaware Valley.
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