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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. ...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 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. ...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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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/ ...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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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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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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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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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

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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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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

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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. ...Read more

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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. ...Read more

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Can you please tell me evolutionary implications of tay-sachs disease?

Can you please tell me evolutionary implications of tay-sachs disease?

See below: The tay-sachs disease is a genetic malformation that can present in childhood or later years. The evolutionary implications are that the infantile form usually dies before it
can reproduce and so dies out. The adult variety can reproduce and pass the genetic malformation along to its offspring. The adult variety does not appear to be a successful mutation. ...Read more

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Is it uncommon for tay sachs disease to start to manifest later in life?

Is it uncommon for tay sachs disease to start to manifest later in life?

Very Rare: Tay sachs is a metabolic defect that begins to cause problems immediately after birth. Neurologic abnormalities are identified during the first year of life and these children all die in the first years of life. There may be another neurologic disorder that has some of the clinical features of tay sachs that shows up later. ...Read more

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Do people whose children develop tay-sachs disease later have better outcome if they reproduce?

Most likely: Having the knowledge that they produced such a child which will die at a young age, they usually will opt to test any developing fetus for the condition and terminate the pregnancy if it is positive. They have a 75% chance of having a normal child. ...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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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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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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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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Are their any good treatments for tay sachs disease?

Are their any good treatments for tay sachs disease?

Tay Sach's disease: There are symptomatic therapies like anti-seizure medication to control seizures, need physical therapy for joint mobility and respiratory therapy and feeding team help to avoid aspiration from food/ mucus accumulation. ...Read more

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Can tay-sachs disease be detected in a fetus in utero?

Can tay-sachs disease be detected in a fetus in utero?

Yes.: Tay-sachs testing may be done on a fetus in utero via amniocentesis. ...Read more

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What sort of a bioethical decision could parents make if their child has tay sachs disease?

What sort of a bioethical decision could parents make if their child has tay sachs disease?

See below: No physician is going to make any decision for you or your family. You need to know the disease you are dealing with, and the probable outcomes that you will face. The decision that you make will be made by you and your family. Your physicians will help in anyway they can, but it is your decision. I am sorry you are going through this and wish there was something else I could say to help you. ...Read more

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Can a child get tay-sachs disease from parents that don't have the disease?

That's how it happns: Tay-sachs is a genetic disorder that requires two defective genes for expression. During conception, one gene is passed from two unaffected carrier parents & baby develops the disease from having two faulty genes in each cell. Affected patients do not survive to pass it on. ...Read more

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What type of genetic disorders are tay sachs disease and canavans examples of?

Genetic diseases: Tay sachs is an autosomal recessive genetic disease. It is a disease of the nervous system and is a member of the sphingolipidoses. Canavan disease is different autosomal recessive genetic disease of the nervous system and is a member of the leukodystrophies. Eastern european (ashkenazi) jews have a higher carrier rate for both of these diseases than the average population. Seek genetic counsiling. ...Read more

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Two prospective parents learn that they each carry on allele for tay-sachs disease, do they also suffer from the disease?

Protective gene: The carrier state exists & thrives because the unaffected allele is able to provide a protective level of the enzyme needed to avoid symptoms. By providing a basic level of enzyme production, the body can go about its normal metabolic activities without the buildup of toxic materials that cause the disease state. ...Read more

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Can tay sachs and canavans diseases be detected while a fetus is in utero?

Can tay sachs and canavans diseases be detected while a fetus is in utero?

Maybe before: If both parents are identified as carriers, prenatal genetic testing can be done. Chorionic villus sampling (cvs) is the most common form and can be done between 10 and 14 weeks of gestation. Amniocentesis can be performed around 15 weeks. Testing can even be done before implantation. With canavans, genetic counseling and genetic testing can be done for families with two parental carriers. ...Read more

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What is life like for a baby with tay-sachs or other degenerative brain disease?

What is life like for a baby with tay-sachs or other degenerative brain disease?

TAY- SACHS D.: CNS degenerative disorder with enlarged head, infantile spasm, lossof vision, mental and motor difficulty from floppy to rigidity, usually die early in life ...Read more

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How can another genetic condition cause symptoms similar to those of tay sachs?

How can another genetic condition cause symptoms similar to those of tay sachs?

The initial signs: And symptoms of Tay-Sachs can be similar to some other genetic diseases because they are non-specific developmental signs, such as regression or lack of progression in development, lack of visual tracking and seizures. Please check out this link to find out more and discuss your doctor.
http://ntsad. Org/index. Php/tay-sachs/classic-infantile-form ...Read more