Congenital Myasthenic Syndromes

Congenital myasthenic syndromes are a heterogeneous group of genetic disorders characterized by impaired transmission at the neuromuscular junction. A total of 14 congenital myasthenic syndrome genes have been shown to be causally related to congenital myasthenic syndromes, most of which encode postsynaptic neuromuscular junction proteins. In this chapter we will outline our current understanding of the structure and function of the neuromuscular junction and present the clinical features, investigations, and treatment of the different congenital myasthenic syndrome categories based on their underlying molecular defect.