About Rett Syndrome

Rett syndrome is an X-linked, progressive, neurodevelopmental disorder. Rett syndrome has an estimated incidence of 1 in 10,000 live female births, making it one of the most common genetic causes of developmental and intellectual impairment in females. The incidence in males is currently unknown.

Rett syndrome is caused by mutations in the MECP2 gene that lead to deficiency of the methyl cytosine binding protein 2 (MeCP2), an important protein responsible for normal function in the brain and other parts of the nervous system. Females with Rett syndrome typically have normal development up until 6-18 months of age. However, females then experience rapid regression of previously acquired milestones including speech, gross and fine motor skills, and develop stereotypical, repetitive hand movements that prevent them from purposeful hand movement or function. Over time females may develop muscle contractures, rigidity, and debilitating scoliosis, along with periods of recurrent seizures, burdensome gastrointestinal abnormalities, breathing abnormalities and cognitive decline.

There are no approved disease-modifying therapies for Rett syndrome. Current treatments for Rett syndrome include symptom management and supportive care.