Tay-Sachs Disease is a neurodegenerative condition that's common among Ashkenazi Jews and some Canadians and Cajuns. The disease was first discovered in the 1880's and it stems from a mutation of the 15th chromosome.
When compared to other congenital birth defects, such as Spina Bifida, Cystic Fibrosis, and Down Syndrome, Tay-Sachs Disease is relatively uncommon. However, when it does present, the consequences for the new baby and its family can be quite severe.
The vast majority of Tay-Sachs Disease cases involve newborn infants. However, both juvenile and adult TSD cases have been known to medical science. Babies born with the condition look normal during the first several months of development, but soon unfortunately lose sensory and other function, such as sight, hearing, and the ability to swallow. Muscle tone diminishes and severe paralysis can soon follow.
Preventive options for mothers or fathers who are at risk for carrying a recessive Tay-Sachs gene include prenatal genetic screening or even a diagnostic study of maternal eggs prior to fertilization. A PCR test looks for genetic markers to indicate whether one or both parents may be carriers.
Medical science has not yet developed a cure for TSD. However, if properly and timely diagnosed prenatally, parents may use that diagnostic information to make informed decisions with regard to their pregnancies.
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