Tay Sachs Disease (GM2 Gangliosidosis)

• degenerative developmental disease of the grey matter
• onsets between 2 and 6 months
• frequently in Ashkenazi Jewish children
• caused by a deficiency in hexosaminidase A
• leads to early demise

Signs and Symptoms

• cherry red spot in the macula
• seizures
• hyperacusis
• developmental regression