Tay Sachs Disease Information

Filed under: Tay Sachs Disease - 18 Oct 2011  | Spread the word !

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Tay Sachs Disease, also known as TSD, is one of the most rare and at the same time dangerous genetic disorders of all times. Its name comes from the ophthalmologist Warren Tay and the neurologist Bernard Sachs, who both had a significant role in the discovery and the better understanding of Tay Sachs Disease. As I said, Tay Sachs Disease is very rare, and it is more common in the Ashkenazi Jewish population from Eastern and Central Europe and, more recently, in the French-Canadian/ Cajun heritage people.

Tay Sachs Disease is caused by a genetic defect and it progressively destroys the nerve cells in the brain and in the spinal cord. Unfortunately, infants are more likely to develop Tay Sachs Disease. A baby who has Tay Sachs Disease is born without Hexosaminidase A, or Hex A, which is one of the most important enzymes in the human body. As a result, this fatal genetic lipid storage disorder occurs, because the lack of Hex A makes it possible for the fatty substance called ganglioside GM2 to build up into the tissues and further, into the nerve cells. This causes problems in the vision, hearing, movement and mental development. Usually, by the age of 6 months, the baby will develop normally. Once Tay Sachs Disease is triggered, around this age, the baby will not make it and he will die at about 4 years old due to further infections or complications.

Tay Sachs Disease is most often inherited. As it is an autosomal recessive genetic disorder, an infant can only have Tay Sachs Disease if both parents are carriers of the responsible gene. This means that if two carriers have a child, there is a 50% chance that the baby will be a carrier, but it will not have the disease, 25% chance that the child will not be a carrier, nor it will have the disease, and 25% chance that the baby will have the disease. In the United States, about 16 Tay Sachs Disease are reported every year. Unfortunately, no cure has been found for Tay Sachs Disease yet, so this condition is one of the most feared by parents all over the world.

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