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Italian recommendations for diagnosis and management of congenital myasthenic syndromes

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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.

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Authors and Affiliations

  1. Neurology IV – Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Via Celoria 11, 20133, Milan, Italy

    Lorenzo Maggi, Pia Bernasconi, Raffaella Brugnoni & Renato Mantegazza

  2. Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Research Hospital, IRCCS, Rome, Italy

    Adele D’Amico & Enrico Bertini

  3. Paediatric Neurology and Neuromuscular Disorders Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy

    Chiara Fiorillo

  4. Unit of Neuromuscular Disorders, Department of Neurology, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant’Andrea Hospital, Rome, Italy

    Matteo Garibaldi & Giovanni Antonini

  5. Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy

    Guja Astrea & Filippo Maria Santorelli

  6. Translational and Experimental Myology Centre, Istituto Giannina Gaslini, Genoa, Italy

    Claudio Bruno

  7. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

    Rocco Liguori

  8. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy

    Rocco Liguori

  9. Neurology Institute, Università Cattolica del Sacro Cuore, Rome, Italy

    Amelia Evoli

  10. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

    Carmelo Rodolico

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  1. Lorenzo Maggi
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Maggi, L., Bernasconi, P., D’Amico, A. et al. Italian recommendations for diagnosis and management of congenital myasthenic syndromes. Neurol Sci 40, 457–468 (2019). https://doi.org/10.1007/s10072-018-3682-x

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