Clinical and genetic basis of congenital myasthenic syndromes

• Autor(a) principal: Souza,Paulo Victor Sgobbi de
• Data de Publicação: 2016
• Outros Autores: Batistella,Gabriel Novaes de Rezende, Lino,Valéria Cavalcante, Pinto,Wladimir Bocca Vieira de Rezende, Annes,Marcelo, Oliveira,Acary Souza Bulle
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000900750
• topic: myasthenia gravis; congenital myasthenic syndromes, genetics

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.