Tay-Sachs disease

noun
\ ˈtā-ˈsaks- How to pronounce Tay-Sachs disease (audio) \
variants: or Tay-Sachs

Definition of Tay-Sachs disease

: 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

First Known Use of Tay-Sachs disease

1906, in the meaning defined above

History and Etymology for Tay-Sachs disease

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

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The first known use of Tay-Sachs disease was in 1906

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Cite this Entry

“Tay-Sachs disease.” Merriam-Webster.com Dictionary, Merriam-Webster, https://www.merriam-webster.com/dictionary/Tay-Sachs%20disease. Accessed 16 May. 2021.

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More Definitions for Tay-Sachs disease

Tay-Sachs disease

noun
\ ˈtā-ˈsaks- How to pronounce Tay-Sachs disease (audio) \
variants: or Tay-Sachs

Medical Definition of Tay-Sachs disease

: 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

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