Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Research output: Contribution to journalArticlepeer-review


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
Number of pages12
JournalNeurological Sciences
Publication statusE-pub ahead of print - Dec 15 2018


Dive into the research topics of 'Italian recommendations for diagnosis and management of congenital myasthenic syndromes'. Together they form a unique fingerprint.

Cite this