How Common is Tay-Sachs?
Tay-Sachs falls into the class of Lysosomal Storage Diseases – there are over 70 of these.
Overall the Lysosomal Storage Diseases occur with a birth frequency of 1 in 5-7000 in nearly all populations; ie about 100 born in the UK every year. Not all affect the brain, but many do – as in Tay-Sachs Disease and Sandhoff’s Disease (GM2 gangliosidosis), Gaucher, Niemann-Pick A &C, MPS 1-4, GM1 gangliosidosis, alpha-mannosidosis, just to name a few. The slide below shows this in a representative population survey.
Please see below table for general carrier and disease frequencies of Tay-Sachs and Sandoff disease [technically known as GM2 gangliosidosis- and with a shared means of treatment (by restoring the function of the ?-hexosaminidase enzyme)] in different populations.
The slide below refers to the definition of orphan diseases – note ‘prevalence’ rather than the birth frequencies (new incident data) as shown in the other slides.
The statistics and information above were kindly provided by Professor Tim Cox
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