MECP2 Duplication Syndrome is a complex, progressive neurogenetic condition. It is typically characterized by low muscle tone, developmental delays, difficulty with speech, progressive muscle spasticity, recurring respiratory infections, and seizures. MECP2 Duplication Syndrome is almost exclusively found in boys, but rarely, girls are diagnosed with this debilitating disease.
More Resources on
MECP2 Duplication Syndrome:
Nature article on pioneering gene therapy reversal of MECP2 Duplication Syndrome in mice
Science report on promising potential treatment for MECP2 Duplication Syndrome
Review of research and symptom management from the 2020 MECP2 Duplication Syndrome Family Conference in Houston, Texas
Letter on research and clinical care from the 2022 MECP2 Duplication Syndrome Family Conference in Houston, Texas
Links to Friday 2022 Conference Videos & Saturday 2022 Conference Videos
2022 Family Conference Program
Updates will be added as new information becomes available.