Tay-Sachs Disease

CNS damage without organomegaly; signs and symptoms begin after 4-5 months of age.

• mental and developmental deficiency
• startle reaction to sharp noises
• cherry red spot in macula
• seizures
• blindness and hearing loss
• death occurs by four years of age

Etiology:

• deficiency of hexosaminidase A leading to increased levels and accumulation of ganglioside GM2
• normal (or increased) activity of hexosaminidase B
• autosomal recessive

CHLA Board Review 2005