What is Tay- Sachs Disease ? It is a fatal genetic lipid storage in which harmful quaintites of a fatty substance called ganglioside G M2 build up in tissues and nerve cells in the brain. ... It is cause by the insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides.
Symptoms of the Tay-Sachs Disease: It is characterized by the onset of severe mental developmental retardation during the first four to eight months of life. The first signs of the Tay-Sachs Disease vary and are evident at different ages in affected children.. There is a loss of peripheral vison caused by an abnormality in the retina.. By the age of 2 two years the child will have recurrent seizures, and diminished mental status. The infant gradually regresses, losing skills one by one. Tay-Sachs Disease is fatal and death occurs by the five to eight years of life...
Treatment for Tay- Sachs Disease: There is no cure for the Tay- Sachs Disease, treatment is sympomatic. researchers are working on finding a cure for the disease. One way its being explored is that by enzyme replacement therapy to replace the Hex-A lacking babies with Tay - Sachs. Researchers are also focusing on gene therapy which woiuld involve the transfer of a normal gene to replace the abnormal gene....
Statistics on the Tay- Sachs Disease: A persons chance of being a Tay- Sachs Disease carrier are signifcantly higher if he or she is of eastern European ( Ashkenazi) Jewish descent. About one in every 27 jews in the United Stats is a carrier of the Tay- Sachs disease gene... There is also carriers of the disease that are non-Jewish French Canadians living near the St. Lawrence River and in the Cajun Community of Louisianna. The carrier rate in a general population with Jews of Sephardic origin is about one in 250......
Testing on Tay- Sachs Disease: Since there is no cure for Tay- Sachs Disease if couples in the risk group of undergo genetic testing to determine if they are carriers.. A blood test can determine carriers from non- carriers.
What is Tay- Sachs Disease ? It is a fatal genetic lipid storage in which harmful quaintites of a fatty substance called ganglioside G M2 build up in tissues and nerve cells in the brain. ... It is cause by the insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides.
Symptoms of the Tay-Sachs Disease: It is characterized by the onset of severe mental developmental retardation during the first four to eight months of life. The first signs of the Tay-Sachs Disease vary and are evident at different ages in affected children.. There is a loss of peripheral vison caused by an abnormality in the retina.. By the age of 2 two years the child will have recurrent seizures, and diminished mental status. The infant gradually regresses, losing skills one by one. Tay-Sachs Disease is fatal and death occurs by the five to eight years of life...
Treatment for Tay- Sachs Disease: There is no cure for the Tay- Sachs Disease, treatment is sympomatic. researchers are working on finding a cure for the disease. One way its being explored is that by enzyme replacement therapy to replace the Hex-A lacking babies with Tay - Sachs. Researchers are also focusing on gene therapy which woiuld involve the transfer of a normal gene to replace the abnormal gene....
Statistics on the Tay- Sachs Disease: A persons chance of being a Tay- Sachs Disease carrier are signifcantly higher if he or she is of eastern European ( Ashkenazi) Jewish descent. About one in every 27 jews in the United Stats is a carrier of the Tay- Sachs disease gene... There is also carriers of the disease that are non-Jewish French Canadians living near the St. Lawrence River and in the Cajun Community of Louisianna. The carrier rate in a general population with Jews of Sephardic origin is about one in 250......
Testing on Tay- Sachs Disease: Since there is no cure for Tay- Sachs Disease if couples in the risk group of undergo genetic testing to determine if they are carriers.. A blood test can determine carriers from non- carriers.
Tay Sachs Disease chart link - http://www.nchpeg.org/raceandgenetics/images/single_gene_disorders.jpg
Bibliography-
http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm
http://www.mazornet.com/genetics/tay-sachs.htm
http://ghr.nlm.nih.gov/condition=taysachsdisease