CMS are rare and often misdiagnosed genetic disorders due to mutations in genes codifying for proteins involved in the neuromuscular junction structure and function, causing skeletal muscle weakness and fatigability. Clinical presentation is highly variable, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in first decade of life. CMS should be always considered in the differential diagnosis of neuromuscular disorders, representing well-responsive diseases to symptomatic treatments.
The lesson will focus on CMS clinical features, diagnosis and management and more recent achievements in the CMS field.
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