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 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 treatment in MECP2 Duplication Syndrome
​
2022 Family Conference Letter
​
2024 Family Conference Summary
​
Open research studies & more information ​
​
Please reach out for information on accessing full research papers. Updates will be added as new information becomes available.
​