What is Rett Syndrome?
Rett Syndrome is a developmental and not degenerative disorder usually picked up in early childhood.
It is caused by a mutation on the X-chromosome called MECP2. Girls (as this disease is primarily seen in girls) can have up to 200 mutations on this gene. The mutation causes absence of the protein in the gene needed to regulate the functions of the brain.
Typically, the child begins developing normally until 6-18 months old at which point their motor skills stop progressing, then regression begins. Signs and symptoms may include: