Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism 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
- Sandhoff Disease (National Institute of Neurological Disorders and Stroke)
- 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)
Videos and Tutorials
- What Is Tay-Sachs Disease? (Dolan DNA Learning Center)
- ClinicalTrials.gov: Tay-Sachs Disease (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Extensive Mongolian spots and normocephaly: an uncommon presentation of infantile...
- Article: Presentation of central precocious puberty in two patients with Tay-Sachs...
- Article: Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis...
- Tay-Sachs Disease -- see more articles