Tay-Sachs diseaseTay-Sachs disease is a fatal genetic disorder in children that causes progressive destruction of the central nervous system. Symptoms are not apparent until a child is several months old. The infant gradually regresses, and eventually is unable to crawl, turn over, sit or reach out. Eventually the child becomes blind, mentally retarded, paralyzed and non-responsive to his or her environment.When both parents are carriers of the inactive Tay-Sachs gene, there is a one-in-four chance with each pregnancy that their child will have Tay-Sachs disease. A person's chances of being a Tay-Sachs carrier are significantly higher if he or she is of Eastern European (Ashkenazic) Jewish descent. A simple blood test can distinguish Tay-Sachs carriers from non-carriers. Information supplied by the National Tay-Sachs and Allied Diseases Association Inc. Canavan diseaseCanavan disease is a serious, incurable genetic disorder that causes mental retardation and is often fatal in childhood. It manifests in early infancy with low overall muscle tone and lack of head control. Mental retardation results and speech never develops. Blindness, seizures and severe feeding problems may also arise. Many children do not live to reach adolescence. There is no known cure.Like Tay-Sachs, Canavan disease is caused by an enzyme deficiency and occurs with higher frequency in individuals with Ashkenazic Jewish ancestry. If both parents are carriers, there is a one-in-four chance that each pregnancy will result in a child with the disease. Prospective parents may be screened for the disease with a simple blood test. Information provided by Canavan Research Foundation. Gaucher diseaseGaucher disease is a rare inherited condition caused by an enzyme deficiency. It is transmitted by a genetic mutation received from both parents. Symptoms include enlarged liver and spleen, bone deterioration and other related conditions. The course of the disease is quite variable, ranging from no outward symptoms to severe disability and death.The carrier rate for the mutations which cause Gaucher disease is believed to be as high as one in 10 Jewish people of Eastern European ancestry, and one in 100 in the general population. If both parents are carriers, then there is a one-in-four chance that the child will have Gaucher disease Testing identifies potential carriers. Information provided by the National Gaucher Foundation. |
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