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Doctor insights on: Tay Sachs Disease

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What exactly is tay-sachs disease?

What exactly is tay-sachs disease?

Storage disease: Tay sachs is a disease of error in metabolism. Certain by products of metabolism collect and are deposited in liver and other organs. This deposition can result in ineffective organ function. ...Read more

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What are symptoms of tay-sachs disease?

What are symptoms of tay-sachs disease?

TAY-SACHS D.: Missing developmental milestone after age 6 months, develop progressive cognitive and motor deterioration with seizures, mental retardation, paralysis and death in early age. ...Read more

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What are the tests for tay-sachs disease?

What are the tests for tay-sachs disease?

Genetic testing: Genetic testing can be done at labs. See a genetic counselor for details and for other apropos genetic tests for you to have at the same time. ...Read more

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What to do if I have tay-sachs disease?

??as a 41 yo ??: You may be a carrier and asymptomatic, but you did not live to age 41 as a person with tay-sachs. ...Read more

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What are the causes of tay-sachs disease?

Birth defect: Tay sachs disease is caused by a chromosomal abnormality and would be because both parents passed the gene (autosomal recessive) and is seen in 1:3000 babies seen in ashkenazi jewish population. ...Read more

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Are their any good treatments for tay sachs disease?

Are their any good treatments for tay sachs disease?

Tay Sach's disease: There are symptomatic therapies like anti-seizure medication to control seizures, need physical therapy for joint mobility and respiratory therapy and feeding team help to avoid aspiration from food/ mucus accumulation. ...Read more

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Can a child get tay-sachs disease from parents that don't have the disease?

That's how it happns: Tay-sachs is a genetic disorder that requires two defective genes for expression.During conception, one gene is passed from two unaffected carrier parents & baby develops the disease from having two faulty genes in each cell.Affected patients do not survive to pass it on. ...Read more

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What type of genetic disorders are tay sachs disease and canavans examples of?

Genetic diseases: Tay sachs is an autosomal recessive genetic disease. It is a disease of the nervous system and is a member of the sphingolipidoses. Canavan disease is different autosomal recessive genetic disease of the nervous system and is a member of the leukodystrophies. Eastern european (ashkenazi) jews have a higher carrier rate for both of these diseases than the average population.Seek genetic counsiling. ...Read more

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What are some statistics for tay-sachs disease risk?

See below: This is an autosomal recessive disease, meaning that both parents need to be carriers, and their children will have a 25% chance of the disease. The mutation is more prominent in certain populations, specifically the ashkenazi jewish population. ...Read more

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How common is tay sachs disease?

Very rare: very rare in general population, highest risk among Ashkenazi Jewish families ...Read more

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What exactly is tay-sachs disease?

Storage disease: Tay sachs is a disease of error in metabolism. Certain by products of metabolism collect and are deposited in liver and other organs. This deposition can result in ineffective organ function. ...Read more

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Any symptoms of tay-sachs disease?

Any symptoms of tay-sachs disease?

Several forms exists: Infantile form: child appear normal until the age of 3-6 mo, when their development slows & muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, seizures, vision&hearing loss, intellectual disabilities&paralysis may appear with abnormal eye exam. ...Read more

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What are symptoms of tay-sachs disease?

TAY-SACHS D.: Missing developmental milestone after age 6 months, develop progressive cognitive and motor deterioration with seizures, mental retardation, paralysis and death in early age. ...Read more

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What to do if I have tay-sachs disease?

??as a 41 yo ??: You may be a carrier and asymptomatic, but you did not live to age 41 as a person with tay-sachs. ...Read more

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Tay-sachs disease is only injews, right?

Genetic disease: Tay-sachs is a horrible but rare genetic disease caused by an autosomal recessive mutation (abnormal gene) -- this means that both parents have to be carriers of the gene for a baby to inherit the disease. The tay-sachs gene is famous for being found in ashkenazic jews, but is also more common among french canadians and cajuns. Altho rare, anyone can carry the gene (approx 1/300 in north america). ...Read more

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What are the causes of tay-sachs disease?

Birth defect: Tay sachs disease is caused by a chromosomal abnormality and would be because both parents passed the gene (autosomal recessive) and is seen in 1:3000 babies seen in ashkenazi jewish population. ...Read more

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What are the tests for tay-sachs disease?

Genetic testing: Genetic testing can be done at labs. See a genetic counselor for details and for other apropos genetic tests for you to have at the same time. ...Read more

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What are the symptoms of tay-sachs disease?

Detrioration: An autosomal recessive genetic disorder. In its most common variant (known as infantile tay–sachs disease), it causes a progressive deterioration of mental and physical abilities that commences around six months of age. There is regression of development. Patients become deaf and blind and have a shortened life. It is quite sad. ...Read more

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What are some symptoms of tay-sachs disease?

Symptoms of TAYSACHS: Children are noemal at birth and develop normally first six months than deterioration of mental and physical abilities start child develop blindness, deafness, unable to swallow, atrophic and becomes paralysed and death occurs before age of four. ...Read more

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How long can you live with Tay-Sachs disease?

Depends on age: This is a rare genetic condition that has several different presentations. Infants who begin with symptoms early in life often do have a shortened lifespan. Adult onset is not considered as lethal. http://ghr.nlm.nih.gov/condition/tay-sachs-disease http://taysachsdisease16.blogspot.com/2011/11/what-is-life-expectancy-of-someone-with.html ...Read more