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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:

MECP2 Duplication Foundation

401 Project

Levon's Light

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.


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