what is tay sachs syndrome
Tay-Sachs disease is a gangliosidosis characterised by: An exaggerated startle response. Delay in psychomotor development. Hypotonia (followed by spasticity) Visual loss. A macular cherry-red spot. Pathogenesis. Tay-Sachs disease (and its variants) are caused by absence or defects of the alpha subunit of hexosaminidase A.