Tay-Sachs Disease Summary Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4. The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease. There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes. NIH: National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke Clinical Trials ClinicalTrials.gov: Tay-Sachs Disease National Institutes of Health Genetics Genetics Home Reference: GM2-gangliosidosis, AB variant National Library of Medicine Genetics Home Reference: Sandhoff disease National Library of Medicine Genetics Home Reference: Tay-Sachs disease National Library of Medicine Start Here Learning about Tay-Sachs Disease National Human Genome Research Institute Tay-Sachs and Sandhoff Diseases March of Dimes Birth Defects Foundation Tay-Sachs Disease National Institute of Neurological Disorders and Stroke Tay-Sachs Disease Nemours Foundation Related Issues Lipid Storage Diseases National Institute of Neurological Disorders and Stroke Lipid Storage Diseases National Institute of Neurological Disorders and Stroke Prevention and Risk Factors MedlinePlus: Genetic Counseling National Library of Medicine Diagnosis and Tests MedlinePlus: Genetic Testing National Library of Medicine Find an Expert National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke Journal Articles Tay-Sachs Disease Specifics Sandhoff Disease National Institute of Neurological Disorders and Stroke Array Tay-Sachs disease Videos and Tutorials What Is Tay-Sachs Disease? Dolan DNA Learning Center
