What's Rett Syndrome?

Rett Syndrome (RTT) is a progressive neurodevelopmental disorder that affects girls almost exclusively, being one of the most common causes of severe intellectual disability in females.

 

It’s a chromosome X-linked disease, most often caused by mutations in MECP2 gene. It is characterized by normal development and growth until 6-18 months of life, followed by a neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. After the initial regression, the condition stabilizes and patients usually survive into adulthood.

 

RTT affects approximately 1 in 10000 females in all racial and ethnic groups worldwide.