Tay-Sachs Disease is a progressive and fatal genetic condition that involves a complete deficiency of the hexosaminidase-A (HEXA) enzyme. This enzyme is needed in healthy individuals for the process of hydrolysis of GM2 ganglioside to occur. For individuals with Tay-Sachs disease that lack this enzyme, the fatty substance of GM2 ganglioside accumulates in the brain and leads to the symptoms of the disease.
Estimates for the birth prevalence of Tay Sachs disease (live births) vary. Estimates of 0.45 per 100,000 and 0.41 per 100,000 have been published for the populations of Australia and The Netherlands respectively, while for Northern Portugal an estimate of 3.13 per 100,000 has been reported (Meikle 1999, Poorthuis 1999, Pinto 2004). Assuming that the overall UK population is similar to that of Australia or the Netherlands, and given that there are approximately 650,000 live births per year in England.
There's currently no cure for Tay-Sachs disease, so the aim of treatment is to make living with the condition as comfortable as possible. Treatment usually focuses on the Preventing problems with the lungs and airways, relieving any feeding or swallowing problems (dysphagia) and using medication to help control or relieve symptoms, such as fits and muscle stiffness.