Congenital Myasthenic Syndromes

Congenital myasthenic syndromes (CMS) are heterogenous genetic diseases that result from abnormal neuromuscular transmission (Angelini 2018; Engel et al. 2015). The first description of CMS was made by Harold B. Rothbart in 1937, while the term “congenital myasthenia” was coined by J. Robert Bowman to describe an infant with normal parents who developed myasthenic symptoms in childhood. The prevalence of CMS is estimated at ~3.8 per 100,000.