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Italian recommendations for diagnosis and management of congenital myasthenic syndromes

  • Lorenzo MaggiEmail author
  • Pia Bernasconi
  • Adele D’Amico
  • Raffaella Brugnoni
  • Chiara Fiorillo
  • Matteo Garibaldi
  • Guja Astrea
  • Claudio Bruno
  • Filippo Maria Santorelli
  • Rocco Liguori
  • Giovanni Antonini
  • Amelia Evoli
  • Enrico Bertini
  • Carmelo Rodolico
  • Renato Mantegazza
Review Article

Abstract

Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported. Clinical presentation is highly heterogeneous, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in the first decade of life. Although considered rare, CMS are probably underestimated due to diagnostic difficulties. Because of the several therapeutic opportunities, CMS should be always considered in the differential diagnosis of neuromuscular disorders. The Italian Network on CMS proposes here recommendations for proper CMS diagnosis and management, aiming to guide clinicians in their practical approach to CMS patients.

Keywords

Congenital myasthenic syndromes Recommendations Neuromuscular junction Myasthenia gravis Myopathy 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Fondazione Società Italiana di Neurologia 2018

Authors and Affiliations

  • Lorenzo Maggi
    • 1
    Email author return OK on get
  • Pia Bernasconi
    • 1
  • Adele D’Amico
    • 2
  • Raffaella Brugnoni
    • 1
  • Chiara Fiorillo
    • 3
  • Matteo Garibaldi
    • 4
  • Guja Astrea
    • 5
  • Claudio Bruno
    • 6
  • Filippo Maria Santorelli
    • 5
  • Rocco Liguori
    • 7
    • 8
  • Giovanni Antonini
    • 4
  • Amelia Evoli
    • 9
  • Enrico Bertini
    • 2
  • Carmelo Rodolico
    • 10
  • Renato Mantegazza
    • 1
  1. 1.Neurology IV – Neuroimmunology and Neuromuscular Diseases UnitFondazione IRCCS Istituto Neurologico “Carlo Besta”MilanItaly
  2. 2.Unit of Neuromuscular and Neurodegenerative DisordersBambino Gesù Children’s Research Hospital, IRCCSRomeItaly
  3. 3.Paediatric Neurology and Neuromuscular Disorders Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child HealthUniversity of Genoa, Istituto Giannina GasliniGenoaItaly
  4. 4.Unit of Neuromuscular Disorders, Department of Neurology, Mental Health and Sensory Organs (NESMOS)Sapienza University of Rome, Sant’Andrea HospitalRomeItaly
  5. 5.Molecular MedicineIRCCS Fondazione Stella MarisPisaItaly
  6. 6.Translational and Experimental Myology CentreIstituto Giannina GasliniGenoaItaly
  7. 7.Department of Biomedical and Neuromotor SciencesUniversity of BolognaBolognaItaly
  8. 8.IRCCS Istituto delle Scienze Neurologiche di BolognaBolognaItaly
  9. 9.Neurology InstituteUniversità Cattolica del Sacro CuoreRomeItaly
  10. 10.Department of Clinical and Experimental MedicineUniversity of MessinaMessinaItaly

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