What are the causes and symptoms of "Tay-Sachs disease"? - tay-sachs disease more condition_symptoms
What are the causes and symptoms of Tay-Sachs disease?
Is it common for a certain population?
As the prognosis and prevention is of him?
Tuesday, February 16, 2010
Tay-sachs Disease More Condition_symptoms What Are The Causes And Symptoms Of “Tay-Sachs Disease�
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Here is a link to more information about the genetics of Tay Sachs Disease that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Tay_Sachs_Disease/361. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA
Causes and symptoms:
Tay-Sachs is caused by a defective gene. The genes are found on chromosomes, and serve to guide the development process, such as precision. The genetic defect leads to Tay-Sachs, the lack of an enzyme called hexosaminidase A. Without this enzyme, gangliosides are degraded. They accumulate in the brain, disrupt nerve functioning. Since it is a recessive disorder, only people who receive two defective genes (one from the mother and father) actually have the disease. People who have a defective gene and one normal gene are called carriers. They carry the defective gene and can therefore transfer the gene and / or disease to their children.
If a carrier and a carrier, which no children, None of their children actually Tay-Sachs. It is likely that will be 50% of the carriers themselves, their children. When two carriers have children, your children have a 25% probability of normal genes, a 50% probability of implementation of the defective gene, and 25% probability that two defective genes. The two defective genes cause the disease.
Some variants of this classical progression of Tay-Sachs disease are possible:
• Lower the hexosaminidase deficiency. Symptoms appear between two and five years, the disease progresses slowly, with death over 15 years.
• Chronic hexosaminidase deficiency. The symptoms begin at age five or May will not occur before the age of 20-30. The disease is milder. The language is confused. The individual may have difficulty walk through the weakness, muscle cramps, and decreased coordination of movements. Some people develop mental illnesses. Many changes in the intelligence, hearing or eyesight.
Tay JOINT:-Sachs disease, especially among the Jews in Eastern Europe and Russia (Ashkenazi) origin. About one baby in 3600 Ashkenazi Jewish couples who are born in the disease.
Prognosis: Unfortunately, the prognosis for a child with Tay-Sachs is a classic for certain death.
Prevention: Prevention involves identifying carriers of the disease and adequate information on the possibility that their children will have Tay-Sachs. If hexosaminidase levels have to bear half the normal level of a personEFFECTIVE gene. Corporate reduce blood tests showed hexosaminidase A.
A lysosomal storage disease resulting from a deficiency of hexosaminidase. The monosialoganglioside is located in the central and peripheral neurons, stored cells. Present with irritability and hyperacusis, hypotonia children, and the inadequate development of motor skills. Blindness Macular cherry red spots and seizures are clearly in the first year. Death occurs within a few years. Autosomal recessive, lies mainly in the Jewish population
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