Doctor insights on:
Tay Sachs Karyotype
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
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
Genetics: Tay-sachs which almost always is presents in early infancy, is due to the inheritance of a defective gene one from each parent which is termed recessive inheritance. The parents do not show the disease although testing is possible askenazic jews and french canadians have an excess of this condition and will frequently get tested before pregnancy. It is fatal and severe. ...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
? Re-test?: The diagnosis of any life threatening illness in a patient that appears outwardly normal is going to bring initial shock & disbelief to most of us. Additional confirmatory tests by an alternate lab can be arranged for most conditions. Of note, carrier detection in the parents & other 1st degree family members would benefit your extended family. See:www. Ninds. Nih. Gov/disorders/taysachs/taysachs. Htm. ...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
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
Genetic screening: Early in pregnancy, many physicians order maternal screening for a panel of genetic diseases which may include tay sachs. If mother is a carrier, then father is also tested. If both parents are carriers then there is a 25% chance that their child will have tay sachs disease. ...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
Depends: Sxs of "classic" tay-sachs usually develop around 3-6 mos of age with muscle weakness. Between 6 -10 months of age, a child will not meet motor milestones & may lose the ability to perform tasks. After 8 -10 months of age, a baby will move less & become less responsive. At 2 yrs, they typically have trouble swallowing & become more unresponsive. Age of death-approx. 2-4 yrs often from pneumonia. ...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
Heredity: Jews were isolated in communities in eastern europe when they were forbidden to mix with the rest of the populace. At some time about 300-400 years ago, a mutation occurred which led to tay sachs in that community. Since outmixture was not common, the gene stayed in that population and since it was recessive, it could propogate. Jews of that origin can marry and the disease shows up. ...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
Tay-Sachs Disease: For individuals with classic tay-sachs disease, death usually occurs by 2-4 years of age from bronchopneumonia. ...Read more
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