title: Clinical and genetic basis of congenital myasthenic syndromes.
abstract: Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians. We conducted a wide review of congenital myasthenic syndromes in their clinical, genetic and therapeutic aspects.
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia e Neurocicurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.
authors.forename: Paulo Victor Sgobbi de
authors.initials: PV
authors.lastname: Souza
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia e Neurocicurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.
authors.forename: Gabriel Novaes de Rezende
authors.initials: GN
authors.lastname: Batistella
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia e Neurocicurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.
authors.forename: Valéria Cavalcante
authors.initials: VC
authors.lastname: Lino
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia e Neurocicurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.
authors.forename: Wladimir Bocca Vieira de Rezende
authors.initials: WB
authors.lastname: Pinto
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia e Neurocicurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.
authors.forename: Marcelo
authors.initials: M
authors.lastname: Annes
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia e Neurocicurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.
authors.forename: Acary Souza Bulle
authors.initials: AS
authors.lastname: Oliveira
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009157:Myasthenia Gravis / Q000235:genetics / Q000473:pathology; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype