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Genetic Counseling

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Tay-Sachs Disease

Progressively ruins nerve cells (neurons) in the brain and spinal cord Tay-Sachs disease is a rare inherited disorder. A baby is born without one of this essential enzymes, hexosaminidase with Tay-Sachs A (HEXA) and so, fatty proteins build up in the brain, they hurt the baby's hearing, movement, sight and mental development. A child can only get Tay-Sachs by inheriting gene for it from both parents. Tay-Sachs can be detected before birth, then couples who are thought of having children should get a blood test to find out whether their child would be likely to have it. An obstetrician/gynecologist may cite the couple to a genetic counselor for more data.

The people who are at risk the most for Tay-Sachs Disease are people of Ashkenazi Jewish heritage of eastern and central European descent are most at risk, people of French-Canadian/Cajun heritage and Irish heritage have also been found to have the Tay-Sachs gene. If people carry the genetic mutation that causes Tay-Sachs, but do not develop the full-blown disease.
If both parents are carriers of the gene a child can only have Tay-Sachs disease. When two carriers have a child together, Out of a 100% their 50% chance that the child will carry the disease and don’t have it 25% chance will not carry or have the disease 25% that the child will have Tay-Sachs

To add to classic Tay-Sachs, there are other forms of Hexosaminidase a deficiency that are sometimes mentioned to as forms of Tay-Sachs. Juvenile Hexosaminidase A deficiency start with difficulty walking (ataxia) and incoordination in early childhood. Symptoms are related to those of classic Tay-Sachs although the cherry-red spot is not as common. Age of death is usually in teenage years, normally from infections, although few will die much sooner. Chronic Hexosaminidase A deficiency regularly begins...

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