Tay-Sachs disease

noun

ˈtā-ˈsaks- 

variants or Tay-Sachs

: a hereditary disorder of lipid metabolism typically affecting individuals of eastern European Jewish ancestry that is marked by the accumulation of lipids especially in nerve cells of the brain due to a deficiency of hexosaminidase and that is characterized by weakness, exaggerated startle response to sudden noise, diminished muscle tone, red retinal spots, macrocephaly, gradual loss of hearing and vision, deterioration of cognitive abilities and motor skills, seizures, paralysis, and death in early childhood

Note: Tay-Sachs disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

… if they both had the recessive gene and ever had a baby, there was a one in four chance the baby would have Tay-Sachs disease.

—Barbara Mahany

In peoples around the world Tay-Sachs appears once in every 400,000 births. But it appears a hundred times more frequently—about once in 3,600 births—among descendants of Eastern European Jews, people known as Ashkenazim.

—Jared Diamond

Examples of Tay-Sachs disease in a Sentence

Recent Examples on the Web

It was written by the mother of a child diagnosed with Tay-Sachs disease who decided to celebrate her with a lifetime’s worth of birthdays. —Longreads, 15 Dec. 2022

Over the past two decades, cryobanks have stopped disqualifying donor applicants who are carriers of genetic diseases including Tay-Sachs disease, which is more prevalent among people of Ashkenazi Jewish descent, and the sickle cell trait, which is most common among Black people. —Amber Ferguson, Washington Post, 20 Oct. 2022

That meant shifting away from a gene therapy for GM2 gangliosidosis, also known as Tay-Sachs disease or Sandhoff disease, that was already in a clinical trial. —Dallas News, 29 Aug. 2022

In tests using human cells grown in the lab, Liu's team used prime editing to correct the genes responsible for Tay-Sachs disease, a fatal neurological disorder that attacks in the first few months of life. —Sandee Lamotte, CNN, 31 May 2022

On March 13, 2020, the day President Trump declared the coronavirus a national emergency, the Loughrans learned their 11-month-old boy Finn had Tay-Sachs disease. —Fox News, 11 Apr. 2022

In addition to ulcerative colitis, some examples of other health conditions that occur more commonly in the Ashkenazi Jewish population include Tay-Sachs disease, Gaucher disease, and cystic fibrosis. —Jill Seladi-Schulman, SELF, 15 Feb. 2022

Some examples include Ashkenazi Jews and susceptibility to Tay-Sachs disease and Mennonite communities and susceptibility to maple syrup urine disease (MSUD). —Keolu Fox, Scientific American, 13 Oct. 2021

Granted, some diseases caused by single genes are much more common in particular ethnic groups—Tay-Sachs disease in Ashkenazi Jews or sickle cell disease in people of African descent, for example. —Grace Huckins, Wired, 3 Sep. 2021

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Word History

Etymology

Warren Tay †1927 British physician & Bernard P. Sachs †1944 American neurologist

First Known Use

1906, in the meaning defined above

Kids Definition

Tay-Sachs disease

noun

ˈtā-ˈsaks-

: a hereditary disease that is caused by the absence of an enzyme, is characterized by a buildup of lipids in the nervous tissue, and causes death in early childhood

called also Tay-Sachs

Medical Definition

Tay-Sachs disease

noun

ˈtā-ˈsaks- 

variants or Tay-Sachs

: a hereditary disorder of lipid metabolism typically affecting individuals of eastern European Jewish ancestry that is marked by the accumulation of lipids especially in nerve cells of the brain due to a deficiency of hexosaminidase A and that is characterized by weakness, exaggerated startle response to sudden noise, diminished muscle tone, red retinal spots, macrocephaly, gradual loss of hearing and vision, deterioration of cognitive abilities and motor skills, seizures, paralysis, and death in early childhood

Note: Tay-Sachs disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

Tay-Sachs disease occurs as an autosomal recessive disorder in about 1 in 3600 infants of Ashkenazi Jewish parents, although cases have been reported in French-Canadians, Pennsylvania Dutch, and French-Acadian populations.

—Nelson A. Wivel and LeRoy Walters, Science