Frequency of Lysosomal Storage Diseases

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.

Frequency of Lysosomal Storage Diseases
 
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.

General carrier and disease frequencies of Tay-Sachs and Sandoff disease
 
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.

Definitions of diseases
 
The statistics and information above were kindly provided by Professor Tim Cox