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Doctor insights on: What Is Tay Sachs Disease Symptoms

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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.

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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.

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What are the symptoms of tay-sachs disease?

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.

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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.

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What are the symptoms of tay sachs disease? What are complications with treatment?

See below.: Here is a website that can answer your questions about Tay Sachs Disease. Unfortunately, there is currently no treatment. Http://ntsad. Org/

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How common is tay sachs disease?

Very rare: Very rare in general population, highest risk among Ashkenazi Jewish families

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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.

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Is tay-sachs disease a result of nondisjunction during meiosis?

Is tay-sachs disease a result of nondisjunction during meiosis?

No: Tay-sachs d. Inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The problems lies in enzyme gene mutation (hexa) located in lysosomes, no gm2 gangliosids break down.

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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.

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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).

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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.

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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.

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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

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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.

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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.

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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.

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How many children are born each year with tay sachs disease?

How many children are born each year with tay sachs disease?

Not many: But when one is born, it's a serious disease that is painful and untreatable. Parents are usually jewish, and both parents carry the gene.

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Do people with tay-sachs disease look different than us normal people?

Do people with tay-sachs disease look different than us normal people?

No.: Without molecular diagnostic methods, only the cherry red spot, provides a definitive diagnostic sign. They don't even have liver and spleen enlargement.