Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Lorenzo Maggi, 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

Research output: Contribution to journalArticle

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.

Original languageEnglish
JournalNeurological Sciences
DOIs
Publication statusAccepted/In press - Jan 1 2018

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Keywords

  • Congenital myasthenic syndromes
  • Myasthenia gravis
  • Myopathy
  • Neuromuscular junction
  • Recommendations

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health

Cite this

Maggi, L., Bernasconi, P., D’Amico, A., Brugnoni, R., Fiorillo, C., Garibaldi, M., Astrea, G., Bruno, C., Santorelli, F. M., Liguori, R., Antonini, G., Evoli, A., Bertini, E., Rodolico, C., & Mantegazza, R. (Accepted/In press). Italian recommendations for diagnosis and management of congenital myasthenic syndromes. Neurological Sciences. https://doi.org/10.1007/s10072-018-3682-x