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Tay-Sachs is an inherited genetic disease in which the body does not break down fatty compounds, called gangliosides, as it should. As the gangliosides build up in the brain, they damage the nerve cells, and then these cells cannot function properly.
The gangliosides that build up and cause problems in Tay-Sachs disease are normally broken down by an enzyme called hex A (hexosaminidase A). There are two forms of Tay-Sachs disease, based on whether any hex A is produced or not:
Treatment for Tay-Sachs disease focuses on controlling symptoms and preparing for the course of the disease. There is no cure. Additional personal and family support measures (such as home care or respite care) may be needed as the disease progresses.
Current as of:
October 13, 2016
Adam Husney, MD - Family Medicine & Sarah A. Marshall, MD - Family Medicine & Martin J. Gabica, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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