Clinical and genetic basis of congenital myasthenic syndromes

Detalhes bibliográficos
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
Resumo: 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.
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spelling Clinical and genetic basis of congenital myasthenic syndromesmyasthenia graviscongenital myasthenic syndromes, geneticsABSTRACT 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.Academia Brasileira de Neurologia - ABNEURO2016-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000900750Arquivos de Neuro-Psiquiatria v.74 n.9 2016reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282X20160106info:eu-repo/semantics/openAccessSouza,Paulo Victor Sgobbi deBatistella,Gabriel Novaes de RezendeLino,Valéria CavalcantePinto,Wladimir Bocca Vieira de RezendeAnnes,MarceloOliveira,Acary Souza Bulleeng2016-09-28T00:00:00Zoai:scielo:S0004-282X2016000900750Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2016-09-28T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Clinical and genetic basis of congenital myasthenic syndromes
title Clinical and genetic basis of congenital myasthenic syndromes
spellingShingle Clinical and genetic basis of congenital myasthenic syndromes
Souza,Paulo Victor Sgobbi de
myasthenia gravis
congenital myasthenic syndromes, genetics
title_short Clinical and genetic basis of congenital myasthenic syndromes
title_full Clinical and genetic basis of congenital myasthenic syndromes
title_fullStr Clinical and genetic basis of congenital myasthenic syndromes
title_full_unstemmed Clinical and genetic basis of congenital myasthenic syndromes
title_sort Clinical and genetic basis of congenital myasthenic syndromes
author Souza,Paulo Victor Sgobbi de
author_facet Souza,Paulo Victor Sgobbi de
Batistella,Gabriel Novaes de Rezende
Lino,Valéria Cavalcante
Pinto,Wladimir Bocca Vieira de Rezende
Annes,Marcelo
Oliveira,Acary Souza Bulle
author_role author
author2 Batistella,Gabriel Novaes de Rezende
Lino,Valéria Cavalcante
Pinto,Wladimir Bocca Vieira de Rezende
Annes,Marcelo
Oliveira,Acary Souza Bulle
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Souza,Paulo Victor Sgobbi de
Batistella,Gabriel Novaes de Rezende
Lino,Valéria Cavalcante
Pinto,Wladimir Bocca Vieira de Rezende
Annes,Marcelo
Oliveira,Acary Souza Bulle
dc.subject.por.fl_str_mv myasthenia gravis
congenital myasthenic syndromes, genetics
topic myasthenia gravis
congenital myasthenic syndromes, genetics
description 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.
publishDate 2016
dc.date.none.fl_str_mv 2016-09-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000900750
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000900750
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/0004-282X20160106
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eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.74 n.9 2016
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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