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TAKE THE QUIZ“Sachs?disease”
We have one entry that includes the term Sachs?disease.
Tay-Sachs disease
noun: 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