MECP2 RESEARCH & RESOURCES
MECP2 Duplication Syndrome is a complex, progressive neurogenetic condition. It is typically characterized by low muscle tone, developmental delays, gastroenterological symptoms, progressive musculoskeletal issues, recurring respiratory infections, and seizures.
MECP2 Duplication Syndrome is usually found in boys, but girls can also be diagnosed with this debilitating disease.
More Resources on
MECP2 Duplication Syndrome:
Nature article on reversal of MECP2 Duplication Syndrome in mice
Science Translational Medicine paper on treating MECP2 Duplication Syndrome
Pediatric Neurology paper on caring for a loved one with MECP2 Duplication Syndrome (includes overview of symptoms)
Review of gastrointestinal care in MECP2 Duplication Syndrome
Summary of meeting with the FDA
Open research studies & more information
Please reach out for information on accessing full research papers. Updates will be added as new information becomes available.