Tay-Sachs Disease

Rare inherited disorder progressively destroys neurons

What is it?
Early infancy development slows and muscle weakness increases Exagerrated startle reflex Seizures, vision and hearing impairment. Intellectual disability, paralysis and death Live only into early childhood Rarely there is a later onset variation

inheritability
Very rare More common in eastern and central europeans (Ashkenazi) and Jewish

genetics
HEXA mutation HEXA provides instructions for making enzyme betahexosaminidase A Plays critical role in brain and spinal cord Enzyme located in lysosomes Helps break down a fatty substance in which toxins accumulate Mutation prevents this and toxins build up destroying neurons Lysosomal storage disorder

glossary
Recessive; lysosome; Reference: http://ghr.nih.gov/condition/taysachs-disease