Doctor insights on:
What Is Tay Sachs Disease Symptoms
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¶lysis may appear with abnormal eye exam. ...Read more
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
Here is a website that can answer your questions about Tay Sachs Disease. Unfortunately, there is currently no treatment.
http://ntsad. Org/ ...Read more
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
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
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
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
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
No: They would never live long enough to do so. ...Read more
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
.."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
No: They look like anyone else.Get a more detailed answer ›
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
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
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
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
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
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
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
TaySachs Disease: Yes thevchild ends up handicapped and eventually dies. ...Read more
Not an issue: They never live long enough to make it an issue. ...Read more
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
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
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
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
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
Tay Sachs: Canavan disease is similar to Tay-Sachs. It is a genetic condition ...Read more
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
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