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 m...
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Thieme Revinter Publicações
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000900750&lng=en&tlng=en |
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| author | Paulo Victor Sgobbi de Souza Gabriel Novaes de Rezende Batistella Valéria Cavalcante Lino Wladimir Bocca Vieira de Rezende Pinto Marcelo Annes Acary Souza Bulle Oliveira |
| author_facet | Paulo Victor Sgobbi de Souza Gabriel Novaes de Rezende Batistella Valéria Cavalcante Lino Wladimir Bocca Vieira de Rezende Pinto Marcelo Annes Acary Souza Bulle Oliveira |
| author_sort | Paulo Victor Sgobbi de Souza |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-4f91cd13ac7449fcb26be298e8216f13 |
| institution | DOAJ |
| issn | 1678-4227 |
| language | English |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-4f91cd13ac7449fcb26be298e8216f132025-08-20T03:20:16ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-422774975076010.1590/0004-282X20160106S0004-282X2016000900750Clinical and genetic basis of congenital myasthenic syndromesPaulo Victor Sgobbi de SouzaGabriel Novaes de Rezende BatistellaValéria Cavalcante LinoWladimir Bocca Vieira de Rezende PintoMarcelo AnnesAcary Souza Bulle OliveiraABSTRACT 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000900750&lng=en&tlng=enmyasthenia graviscongenital myasthenic syndromes, genetics |
| spellingShingle | Paulo Victor Sgobbi de Souza Gabriel Novaes de Rezende Batistella Valéria Cavalcante Lino Wladimir Bocca Vieira de Rezende Pinto Marcelo Annes Acary Souza Bulle Oliveira Clinical and genetic basis of congenital myasthenic syndromes Arquivos de Neuro-Psiquiatria myasthenia gravis congenital myasthenic syndromes, genetics |
| title | 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_short | Clinical and genetic basis of congenital myasthenic syndromes |
| title_sort | clinical and genetic basis of congenital myasthenic syndromes |
| topic | myasthenia gravis congenital myasthenic syndromes, genetics |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000900750&lng=en&tlng=en |
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