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Doctor insights on: Tay Sachs Karyotype

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How common is tay sachs disease?

How common is tay sachs disease?

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

Dr. Daniel Perl
36 doctors shared insights

Tay Sachs Disease (Definition)

.."a baby with tay-sachs disease is born without an important enzyme, hexosaminidase a (hex a). So, as fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development." it is ...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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How does tay-sachs get transmitted?

How does tay-sachs get transmitted?

Genetics: Tay-sachs which almost always is presents in early infancy, is due to the inheritance of a defective gene one from each parent which is termed recessive inheritance. The parents do not show the disease although testing is possible askenazic jews and french canadians have an excess of this condition and will frequently get tested before pregnancy. It is fatal and severe. ...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 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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My baby boy has tay-sachs. Can we retest?

My baby boy has tay-sachs. Can we retest?

?Re-test?: The diagnosis of any life threatening illness in a patient that appears outwardly normal is going to bring initial shock & disbelief to most of us. Additional confirmatory tests by an alternate lab can be arranged for most conditions.Of note, carrier detection in the parents & other 1st degree family members would benefit your extended family. See:www.Ninds.Nih.Gov/disorders/taysachs/taysachs.Htm. ...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