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Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

Lorenzo MaggiPia BernasconiAdele D'AmicoRaffaella BrugnoniChiara FiorilloMatteo GaribaldiGuja AstreaClaudio BrunoFilippo Maria SantorelliRocco LiguoriGiovanni AntoniniAmelia EvoliEnrico BertiniCarmelo RodolicoRenato Mantegazza
Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2018)
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.
Keyphrases
  • end stage renal disease
  • newly diagnosed
  • chronic kidney disease
  • ejection fraction
  • clinical practice
  • copy number
  • transcription factor
  • sleep quality
  • drug induced
  • genome wide analysis