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Doctor insights on: Chromosome Tay Sachs Disease

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Which chromosome does tay-sachs disease change?

Which chromosome does tay-sachs disease change?

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

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?

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 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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Why do jews have tay-sachs disease?

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. ...Read more

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Can you tell me are people with tay-sachs disease sterile?

Confusing question: These affected patients never live long enough to become fertile. The gene survives because it passes quietly in the unaffected carriers. Ts only emerges when 2 carrier parents give birth to an effected infant. ...Read more

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

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

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. ...Read more

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What is the life expectancy of someone with tay sachs disease?

Tay Sachs: Tay Sachs disease is an autosomal recessive, neurodegenerative disease cause by excessive storage of Gm2 ganglioside withinn cell lysomes. Normal motor function first few months of life following by progressive weakness, starting at 2 to 6 months of age. Life expectancy is 2 to 5 years. Consult genetic expert. ...Read more

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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. ...Read more

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With infantile tay-sachs disease, does the baby always end up handicapped?

TaySachs Disease: Yes thevchild ends up handicapped and eventually dies. ...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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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 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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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