Introduction to Rett Syndrome

Rett Syndrome (RTT) is a debilitating neurological disorder diagnosed almost exclusively in females. Children with RTT appear to develop normally until 6 to 18 months of age when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure.

RTT was originally described by Dr. Andreas Rett of Austria in 1966, but was relatively unknown until the mid 1980's when an article describing the syndrome was published in a well-known scientific journal.

Historically, RTT was believed to affect 1 in 10,000 females. Many scientists now believe that the prevalence of RTT is in fact much higher. We suspect there are thousands of girls and women undiagnosed or misdiagnosed (eg. autism, cerebral palsy). Although rare, it is possible for boys to have RTT.

RTT is caused by mutations in the gene MECP2, located on the X chromosome. RTT knows no geographic, racial or social boundaries. Fewer then 1% of Rett cases are familial. Any expectant parent is at risk for having a child with RTT. Over a hundred separate mutations in MECP2 have been identified to date. Drawing correlations between specific mutations and symptoms has proven difficult.

Although some individuals with RTT die at a young age, the majority live into adulthood.