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Rett Syndrome Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Rett Syndrome?Is there any treatment? What is the prognosis? What research is being done? Organizations Related NINDS Publications and Information What is Rett Syndrome? Rett syndrome is a progressive neurological disorder in which individuals exhibit reduced muscle tone, autistic-like behavior, hand movements consisting mainly of wringing and waving, loss of purposeful use of the hands, diminished ability to express feelings, avoidance of eye contact, a lag in brain and head growth, gait abnormalities, and seizures. Hypotonia (loss of muscle tone) is usually the first symptom. The syndrome affects approximately 1 in every 10,000-15,000 live female births, with symptoms usually appearing in early childhood — between ages 6 and 18 months. Rett syndrome is caused by mutations (structural alterations or defects) in the MECP2 (pronounced meck-pea-two) gene, which is found on the X chromosome. Scientists identified the gene — which is believed to control the functions of several other genes — in 1999. Is there any treatment? What is the prognosis? What research is being done? International Rett Syndrome Association (IRSA)
National Institute of Child Health and Human
Development (NICHD)
Rett Syndrome Research Foundation (RSRF) Related NINDS Publications and Information
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