Tay-Sachs disease is the most familiar of the Jewish genetic disorders. Babies with Tay-Sachs disease are normal at birth. However, at 3-6 months of age, an affected baby will begin to lose developmental skills. Tay-Sachs disease is caused by a deficiency of an enzyme called hexosaminidase A or hex A. Lack of this enzyme affects the brain and the nervous system causing rapid and progressive deterioration. This condition is life shortening with death usually occurring by the age of 6. No effective treatment is available at this time. A late-onset form of Tay-Sachs also occurs, although it is rare.
|Potentially 1in 2,500 in the Jewish population. Frequency decreased through success of carrier screening programs.
|1/26 – 1/30 in Jews, 1/300 in non-Jewish population.
|By measuring for deficiency of enzyme hex A in blood.
|By measuring for deficiency of hex A in blood and genetic testing of the Tay-Sachs gene.
|Possible by genetic testing of the Tay-Sachs gene or testing for deficiency of enzyme hex A.