Tay-Sachs disease is a rare disorder passed from parents to child. In the most common form, a baby about 6 months old will begin to show symptoms.
Tay-Sachs disease results when an enzyme that helps break down fatty substances is absent. These fatty substances build up to toxic levels in the child's brain and affect the nerve cells. As the disease progresses, the child's body loses function, leading to blindness, deafness, paralysis and death.
There is no cure for Tay-Sachs disease. Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease.
Tay-Sachs disease occurs most frequently among people whose ancestors come from Eastern and Central European Jewish communities (Ashkenazi Jews), from certain French Canadian communities in Quebec, the Old Order Amish community in Pennsylvania and from the Cajun community of Louisiana. A child who inherits the gene from both parents develops Tay-Sachs disease.
If you have a family history of Tay-Sachs disease or if you're a member of a high-risk group and plan to have children, Mayo Clinic doctors strongly recommend genetic testing and genetic counseling.
Oct. 21, 2014
- What is Tay-Sachs disease? Genetics Home Reference. http://ghr.nlm.nih.gov/condition/tay-sachs-disease. Accessed Sept. 9, 2014.
- Learning about Tay-Sachs disease. National Human Genome Research Institute. http://www.genome.gov/10001220. Accessed Sept. 9, 2014.
- Tay-Sachs disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm. Accessed Sept. 9, 2014.
- Riggin EA. Decision Support System. Mayo Clinic, Rochester, Minn. June 19, 2014.