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Clinical features of MECP2 duplication

Common features of MEPC2 duplication syndrome in boys (NOTE: not all boys with MECP2 will have all of these features and only rarely will girls have any of these features)

  • Significant intellectual disability (100%) with limited or absent speech.
    • Some may experience developmental regression
  • Early onset hypotonia (low muscle tone) with slow motor development
    •  Sitting, crawling, and walking are very delayed or challenging
    • 2/3 of boys may be able to walk
  • Progressive spasticity of the lower limbs (usually more in legs than arms)
    • Ataxia (uncoordinated movement - particularly with walking)
    • 75% get infections easily and often
    • Most likely occur as recurrent respiratory infections
  • Seizures occur in 50%
    • Autistic-like behaviors may be present
      •  Repetitive movements of hands
      • Teeth grinding
    • Gastrointestinal dysfunction may be present
      • Constipation
      • Reflux
      • Bladder issues
    • Mild facial differences
      • Flat head
      • Underdevelopment of the middle of the face
      • Large ears
      • Flat nasal bridge