Pictures of Tay-Sachs Disease

Child with Tay-Sachs

Baby with Tay-Sachs

How is it inherited? Is it dominant or recessive? Is it genetic or chromosomal?

Tay-Sachs disease is passed through families. This is a recessive disease and both parents must be carries of the disease for the child to have it. This is a genetic disease, which means it is caused by a defective gene. This disease is caused by a defective gene on chromosome 15.

Citations

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/

www.jewishfederations.org/page.aspx?id=30796

pediatrics.about.com/od/birthdefects/flgen-counslor.htm

How possible is it that a cure will be found?

There currently is no cure, but doctors are experimenting with enzyme replacement therapy. They are still in the early stages of experimenting so it will be many, many years before a cure is found.

Organizations that can help a family cope with a childs disorder.

 

Tay-Sachs Disease Support Group

NORD Rare Disease Support Community

 

Genetics and Birth Defects Support Group

What is life like? What is the quality of life?

The first three to six months of life are normal and the child grows normally. Symptoms then start to get really bad really quick for the next couple of years.Once symptoms occur the quality of life is not very good and they always die.

Is the disease a genetic or chromosomal?

Tay-Sachs disease is a genetic disorder passed down through families. A person with this disease lacks hexosaminidase A, which breaks down GM2. Without HEX-A. GM2 builds up in mostley in the brain cells causing major problems. Both parents must carry the gene to pass it on their child. The father and the mothers genotype must be Tt to have a child with Tay-Sachs disease.

How can this disease be treated?

There currently is no treatment for Tay-Sachs disease. Doctors have been experimenting with enzyme replacement therapy to provide HEX-A to patients, but they still face serious opposition.

What is the life expectancy of someone with this disease?

A child with Tay-Sachs usually lives to be about four or five years old. Late-onset Tay-Sachs disease that affects adults, is very rare.

What are the physical symptoms?

The symptoms of Tay-Sachs disease are very severe and usually appear within three to six mounths after birth. Symptoms include: Deafness, blindness, dementia, decresed muscle tone and mental/social skills, listlessness, no motor skills, paralysis, seizures and slow growth.

How is the disease diagnosed?

You can diagnose this disease by going to a doctor and having an enzyme analysis of hexosaminidase or an eye examination.

What are the chances of a person with this disease passing it on to their offspring?

People with this disease have no chance of paaing it on to their offspring because most die by the age of four of five. If both parents are carriers they have a 25% chance of passing it on to their offspring.

How prevalent is this disease in a population?

Tay-Sachs disease is a very rare disease of the nervous system and is very common within the Eastern and Central European populations. It is most common among the Ashenazi Jewish population where one out of every twenty-seven people have or carry this disease. It is also more prevalent in some French-Canadian communities of Quebec, Old Order Amish community in Pennsylvania, and the Cajun populations of Louisiana. Tay-Sachs disease is very rare among the general population.

What is a Genetic Counselor?

    A Genetic Counsler talks to people about birth defects, genetic conditions, and helps families deal with feelings about these conditions. Genetic Counselors often go over a persons family history to determine what genetic diseases run in their family. A Genetic Counselor needs at least a Masters degree, perferably in a biology or heath, human genetics, counsleing, or other related field, and then needs to be certified to practice.