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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

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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

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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

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How can you tell if your child will have tay-sachs?

How can you tell if your child will have tay-sachs?

Genetic screening: Early in pregnancy, many physicians order maternal screening for a panel of genetic diseases which may include tay sachs. If mother is a carrier, then father is also tested. If both parents are carriers then there is a 25% chance that their child will have tay sachs disease. ...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 can having tay-sachs disease affect people's life?

Misery: Affected patients appear normal at birth & progress normally up to about 6 mo when they plateau & start their decline.They gradually deteriorate & die of complications of their disease by the age of about 4 yrs. ...Read more

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How long does someone with tay-sachs actually have to live?

How long does someone with tay-sachs actually have to live?

Depends: Sxs of "classic" tay-sachs usually develop around 3-6 mos of age with muscle weakness. Between 6 -10 months of age, a child will not meet motor milestones & may lose the ability to perform tasks. After 8 -10 months of age, a baby will move less & become less responsive. At 2 yrs, they typically have trouble swallowing & become more unresponsive. Age of death-approx. 2-4 yrs often from pneumonia. ...Read more

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What is the definition or description of: tay sachs disease?

See below: .."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 an inherited disease. http://kidshealth.org/parent/medical/genetic/tay_sachs.html. ...Read more