FAQ - tay-sachs disease
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Tay-Sachs Disease..?

I have to do a project on Tay-Sachs Disease. To sum it all up, What's the easiest way to describe the Tay-Sachs Disease?

A healthy baby is able to develop vision, movement, hearing, and other vital functions, in part, because enzymes clear out fatty protein and other unwanted material that can interfere with growth.

But a baby with Tay-Sachs disease is born without one of those important enzymes, called Hexosaminidase A (Hex A). So, as those fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development.

If you are going to cut and paste this into your homework, make sure to reference it like a proper college student by owning up you got it from the web page described below. Plagerism is an offence.

Good luck and good question!  (+ info)

tay sachs disease?!?!?

heyy..I am doing a science report on Tay Sachs disease and I need to know why Tay Sachs is mostly found in Jewish people...please don't answer with I don't know what that is or I am just doing this to get points =[ I need it!

haha I did a project on this and the reason it was found mostly in Azkanazi jews is because the disease originated in the Southern European area. That is also why more people of French-Canadian and Cajun decent are getting Tay-Sachs. So, basically the disease is found mostly in people of Southern European decent. In simple perspective :)  (+ info)

Tay-Sachs disease!!!!!!!?

Do people with Tay-Sachs disease look different than normal people? I need a quick answer! THXXX!

They have a cherry red spot on them, see the Wikipedia page below for a complete description.  (+ info)

Tay Sachs disease?

How might another genetic condition cause symptoms similar to those of Tay Sachs?

Tay Sachs, if I recall correctly, is bouts of uncontrollable outbursts ...especially profanities for no apparent reason. The following is an excerpt taken from the first article at the source below ... see source for other types of genetically linked diseases ... similar to Tay Sachs.

Tay-Sachs Disease and Sandhoff's Disease

Tay-Sachs disease and Sandhoff's disease are sphingolipidoses caused by hexosaminidase deficiency that produces severe neurologic symptoms and early death.

Gangliosides are complex sphingolipids present in the brain. There are 2 major forms, GM1 and GM2, both of which may be involved in lysosomal storage disorders; there are 2 main types of GM2 gangliosidosis, each of which can be caused by numerous different mutations.

Tay-Sachs disease: Deficiency of hexosaminidase A results in accumulation of GM2 in the brain. Inheritance is autosomal recessive; the most common mutations are carried by 1/27 normal adults of Eastern European (Ashkenazi) Jewish origin, although other mutations cluster in some French-Canadian and Cajun populations.

Children with Tay-Sachs disease start missing developmental milestones after age 6 mo and develop progressive cognitive and motor deterioration resulting in seizures, mental retardation, paralysis, and death by age 5 yr. A cherry-red macular spot is common.

Diagnosis is clinical and can be confirmed by enzyme assay. In the absence of effective treatment, management has focused on screening adults of childbearing age in high-risk populations to identify carriers (by way of enzyme activity and mutation testing) combined with genetic counseling.

Sandhoff's disease: There is a combined hexosaminidase A and B deficiency. Clinical manifestations include progressive cerebral degeneration beginning at 6 mo, accompanied by blindness, cherry-red macular spot, and hyperacusis. It is almost indistinguishable from Tay-Sachs disease in course, diagnosis, and management, except that there is visceral involvement (hepatomegaly and bone change) and no ethnic association.

Krabbe's Disease

Krabbe's disease is a sphingolipidosis that causes retardation, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.

Krabbe's disease (galactosylceramide lipidosis, globoid cell leukodystrophy) is caused by an autosomal recessive galactocerebroside β-galactosidase deficiency. It affects infants and is characterized by retardation, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death. Diagnosis is by detecting enzyme deficiency in WBCs or cultured skin fibroblasts. No effective treatment exists. Prenatal testing is available.  (+ info)

How rare is it for Tay Sachs disease to start to manifest later in life?

My sister was tested positive for Tay Sachs and my mother decided to carry her to term and but for some reason she never began to show the symptoms of it as a small child like everyone expected. She's 17 now and very bright and seems perfectly normal. The doctors think the symptoms will probably start up eventually though. How rare is late onset Tay Sachs disease and does anyone who has it ever not start to show symptoms at all?

She just doesn't have the infantile form of it. The late onset type is nonfatal (great news there!) but often these people have neurodegenerative issues... so she will probably end up not being able to walk on her own. And there are a whole slew of neurological issues that are not great that go along with it (cognitive decline, psychological issues, speech and swallowing issues, etc).

Either way, she really needs to consider getting genetic testing done on her partner if she ever decides to have children. Although it's very uncommon, if her partner is a carrier, they have a 25% chance of having a child with the disorder. She's young, but she needs to think about this NOW.

EDIT - btw, it's VERY rare to get the non-infantile forms of it. The disease is rare to begin with, but her form is even more rare.  (+ info)

Can Tay Sachs disease be detected while a fetus is in utero?

My friend and I are doing a project for health class and we need to know if the genetic disease Tay Sachs disease can be detected in a baby while it is still in the womb. thanks.

Genetic disorders such as Tay-Sachs disease, sickle-cell anemia, and thalassemia meet these criteria, and screening tests are commonly done to identify carriers of these diseases. In addition, screening tests may be done for individuals with family histories of Huntington's disease (a degenerative neurological disease) or hemophilia (a bleeding disorder). Such screening tests can eliminate the need for more invasive tests during a pregnancy.

Read more: Genetic Counseling - Definition, Purpose, Precautions, Description, Preparation, Aftercare, Risks, Normal results, Abnormal results http://health.stateuniversity.com/pages/649/Genetic-Counseling.html#ixzz0Z7pPS3TF  (+ info)

What are the causes and symptoms of “Tay-Sachs disease”?

What are the causes and symptoms of “Tay-Sachs disease”?
Is it common for a particular population?
What is the Prognosis & Prevention of it?

Causes and symptoms:
Tay-Sachs is caused by a defective gene. Genes are located on chromosomes, and serve to direct specific development / processes within the body. The genetic defect in Tay-Sachs disease results in the lack of an enzyme, called hexosaminidase A. Without this enzyme, gangliosides cannot be degraded. They build up within the brain, interfering with nerve functioning. Because it is a recessive disorder, only people who receive two defective genes (one from the mother and one from the father) will actually have the disease. People who have only one defective gene and one normal gene are called carriers. They carry the defective gene and thus the possibility of passing the gene and / or the disease onto their offspring.
When a carrier and a non-carrier have children, none of their children will actually have Tay-Sachs. It is likely that 50% of their children will be carriers themselves. When two carriers have children, their children have a 25% chance of having normal genes, a 50% chance of being carriers of the defective gene, and a 25% chance of having two defective genes. The two defective genes cause the disease itself.
A few variations from this classical progression of Tay-Sachs disease are possible:
•Juvenile hexosaminidase A deficiency. Symptoms appear between ages two and five; the disease progresses more slowly, with death by about 15 years.
•Chronic hexosaminidase A deficiency. Symptoms may begin around age five, or may not occur until age 20-30. The disease is milder. Speech becomes slurred. The individual may have difficulty walking due to weakness, muscle cramps, and decreased coordination of movements. Some individuals develop mental illness. Many have changes in intellect, hearing, or vision.

COMMON : Tay-Sachs disease is particularly common among Jewish people of Eastern European and Russian (Ashkenazi) origin. About one out of every 3,600 babies born to Ashkenazi Jewish couples will have the disease.

Prognosis: Sadly, the prognosis for a child with classic Tay-Sachs disease is certain death.

Prevention: Prevention involves identifying carriers of the disease and providing them with appropriate information concerning the chance of their offspring having Tay-Sachs disease. When the levels of hexosaminidase A are half the normal level a person is a carrier of the defective gene. Blood tests of carriers reveals reduction of Hexosaminidase A.  (+ info)

With infantile Tay-Sachs disease, does the baby always end up mentally handicapped?

If a baby has infantile Tay-Sachs disease, could they only be physically affected, not mentally?

Given that the child becomes blind, deaf, and unable to swallow, it would certainly seem that there is some degree of mental difficulty. In adults there is cognitive decline and psychiatric illness.  (+ info)

What should be a bio ethical decision for parents to make if their child has Tay Sachs disease?

Tay Sachs has no cure and a child could die when they are around 4 or 5. what are some possible decisions for me as a parent to make?


This disease is awful and I am sorry you are and your family are going through this. If the baby is already here you just have to give it the best life possible. If the baby is still a fetus you can terminate. No one can make that decision other than you and your spouse because children with this horrible disease go blind, deaf, can't swallow, eat and are in severe pain. It is an ethical decision because is it right to make a child suffer.

The website listed above is a true story and how I first heard of the disease. I personally have not had any experience with it.  (+ info)

What kinds of tests are available to check for Tay-Sachs disease?

My husband is of eastern european jewish decent... I am not. Do both parents have to be carriers for this to be a concern? Has anyone gone through the testing for Tay-Sachs? What does it involve? Thanks!

Hi! I am a Tay Sachs carrier, so I understand what you are dealing with. 1 in 55-60 Ashkanazi (Eastern European Jews) are carriers of Tay Sachs. This is only becomes a problem if both parents are carriers, as both parents need to give the bad gene (you have 1 good copy and one bad copy if you are a carrier) to the child in order for them to have Tay Sachs. People who are white and are not French Canadian, Cajan, or Ashkanazi Jews have a 1/250 chance of being a carrier of Tay Sachs.
Your doctor can do a simple blood test to rule out you being a carrier of Tay Sachs, although genitists (doctors who specialize in genetic disorders) will tell you that your partner should be tested as he is the one who is most likely going to be the carrier. Most OB/GYN's test the mother even if it is the father who is the one who is more likely to be a carrier as you are his/her patient and your partner is not. Depending upon your insurance you may choose to be screened for other genetic problems like Cystifc Fibrosis, or Nieman Pic. Even if you and your husband are carriers you can still have children if you use a Reproductive Endocronologist.  (+ info)

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