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.