Question 1

what are symptoms of tay-sachs disease?

Accepted Answer

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.

Question 2

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

Accepted Answer

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.

Question 3

how common is tay sachs disease?

Accepted Answer

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

Question 4

what exactly is tay-sachs disease?

Accepted Answer

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.

Question 5

what to do if i have tay-sachs disease?

Accepted Answer

??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.

Question 6

tay-sachs disease is only injews, right?

Accepted Answer

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).

Question 7

what are the tests for tay-sachs disease?

Accepted Answer

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.

Question 8

why do jews have tay-sachs disease?

Accepted Answer

Not known why: It is known to have prevalence in ashkenazi jews approximately 1 in 25 jews are carriers of tay sachs disease which make this population particularly susceptible.1 in250 people are carriers. In the general population.Some explanations are attributed to genetic drift, the founder effect which occurs when a population is started de a very small number of individuals.

Question 9

which chromosome does tay-sachs disease change?

Accepted Answer

15: Tay sachs is an autosomal recessive disorder affecting chromosome 15 in the "hexa" gene.

Question 10

what type of mutation is responsible for tay-sachs disease?

Accepted Answer

Autosomal recessive: The medical term for this type of inheritance is autosomal recessive.  Both parents must possess the recessive gene which is combined in the baby (receives two copies) and produces expression of the disorder.

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What is tay sachs disease symptoms

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What are symptoms of tay-sachs disease?

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

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How common is tay sachs disease?

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What exactly is tay-sachs disease?

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What to do if i have tay-sachs disease?

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Tay-sachs disease is only injews, right?

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What are the tests for tay-sachs disease?

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Why do jews have tay-sachs disease?

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Which chromosome does tay-sachs disease change?

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What type of mutation is responsible for tay-sachs disease?

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