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Clinical and genetic basis of congenital myasthenic syndromes
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...
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| Published in: | Arquivos de neuro-psiquiatria 2016-09, Vol.74 (9), p.750-760 |
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| Main Authors: | , , , , , |
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| container_end_page | 760 |
| container_issue | 9 |
| container_start_page | 750 |
| container_title | Arquivos de neuro-psiquiatria |
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| creator | 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 |
| description | 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. |
| doi_str_mv | 10.1590/0004-282x20160106 |
| format | article |
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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.</description><identifier>ISSN: 0004-282X</identifier><identifier>ISSN: 1678-4227</identifier><identifier>EISSN: 1678-4227</identifier><identifier>EISSN: 0004-282X</identifier><identifier>DOI: 10.1590/0004-282x20160106</identifier><identifier>PMID: 27706425</identifier><language>eng</language><publisher>Brazil: Academia Brasileira de Neurologia - ABNEURO</publisher><subject>congenital myasthenic syndromes, genetics ; Diagnosis, Differential ; Female ; Humans ; Male ; Muscle Weakness - genetics ; Muscle Weakness - pathology ; Mutation ; myasthenia gravis ; Myasthenia Gravis - genetics ; Myasthenia Gravis - pathology ; Myasthenic Syndromes, Congenital - genetics ; Myasthenic Syndromes, Congenital - pathology ; NEUROSCIENCES ; Phenotype ; PSYCHIATRY</subject><ispartof>Arquivos de neuro-psiquiatria, 2016-09, Vol.74 (9), p.750-760</ispartof><rights>This work is licensed under a Creative Commons Attribution 4.0 International License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c548t-f0d90f3efb443781facf3e177782115ac0309c97ac5abe337ad38a3a5eadd2913</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,24150,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27706425$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Souza, Paulo Victor Sgobbi de</creatorcontrib><creatorcontrib>Batistella, Gabriel Novaes de Rezende</creatorcontrib><creatorcontrib>Lino, Valéria Cavalcante</creatorcontrib><creatorcontrib>Pinto, Wladimir Bocca Vieira de Rezende</creatorcontrib><creatorcontrib>Annes, Marcelo</creatorcontrib><creatorcontrib>Oliveira, Acary Souza Bulle</creatorcontrib><title>Clinical and genetic basis of congenital myasthenic syndromes</title><title>Arquivos de neuro-psiquiatria</title><addtitle>Arq Neuropsiquiatr</addtitle><description>Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. 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We conducted a wide review of congenital myasthenic syndromes in their clinical, genetic and therapeutic aspects.</description><subject>congenital myasthenic syndromes, genetics</subject><subject>Diagnosis, Differential</subject><subject>Female</subject><subject>Humans</subject><subject>Male</subject><subject>Muscle Weakness - genetics</subject><subject>Muscle Weakness - pathology</subject><subject>Mutation</subject><subject>myasthenia gravis</subject><subject>Myasthenia Gravis - genetics</subject><subject>Myasthenia Gravis - pathology</subject><subject>Myasthenic Syndromes, Congenital - genetics</subject><subject>Myasthenic Syndromes, Congenital - pathology</subject><subject>NEUROSCIENCES</subject><subject>Phenotype</subject><subject>PSYCHIATRY</subject><issn>0004-282X</issn><issn>1678-4227</issn><issn>1678-4227</issn><issn>0004-282X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNqNUcluFDEUtBCIDIEP4IL6yKXD89a2DxzQiCVSJA6AxM167SV41N0Odo_E_D2emSQSN07WW6peuYqQ1xSuqDTwDgBEzzT7w4AOQGF4QjZ0ULoXjKmnZPMw_3lBXtS6A2DCGPWcXDClYBBMbsj77ZSW5HDqcPHdbVjCmlw3Yk21y7FzeWm9tLb5fMC6_mqF6-ph8SXPob4kzyJONby6fy_Jj08fv2-_9DdfP19vP9z0Tgq99hG8gchDHIXgStOIrlVUKaUZpRIdcDDOKHQSx8C5Qs81cpQBvWeG8ktyfeb1GXf2rqQZy8FmTPbUyOXWYmnCp2BFNNR5ytEpIUx0IxvGwIwO7dQQKW9cV2eu6lKYst3lfVmaePvtaJc92nWyE8AAKAkN8PYMuCv59z7U1c6pujBNuIS8r5ZqaYTiVOr_WOWSK8VPrPS86kqutYT4-C0K9piu_VdOS7dh3tzT78c5-EfEQ5z8Lw8am8I</recordid><startdate>201609</startdate><enddate>201609</enddate><creator>Souza, Paulo Victor Sgobbi de</creator><creator>Batistella, Gabriel Novaes de Rezende</creator><creator>Lino, Valéria Cavalcante</creator><creator>Pinto, Wladimir Bocca Vieira de Rezende</creator><creator>Annes, Marcelo</creator><creator>Oliveira, Acary Souza Bulle</creator><general>Academia Brasileira de Neurologia - ABNEURO</general><general>Academia Brasileira de Neurologia (ABNEURO)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>GPN</scope><scope>DOA</scope></search><sort><creationdate>201609</creationdate><title>Clinical and genetic basis of congenital myasthenic syndromes</title><author>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></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c548t-f0d90f3efb443781facf3e177782115ac0309c97ac5abe337ad38a3a5eadd2913</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>congenital myasthenic syndromes, genetics</topic><topic>Diagnosis, Differential</topic><topic>Female</topic><topic>Humans</topic><topic>Male</topic><topic>Muscle Weakness - genetics</topic><topic>Muscle Weakness - pathology</topic><topic>Mutation</topic><topic>myasthenia gravis</topic><topic>Myasthenia Gravis - genetics</topic><topic>Myasthenia Gravis - pathology</topic><topic>Myasthenic Syndromes, Congenital - genetics</topic><topic>Myasthenic Syndromes, Congenital - pathology</topic><topic>NEUROSCIENCES</topic><topic>Phenotype</topic><topic>PSYCHIATRY</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Souza, Paulo Victor Sgobbi de</creatorcontrib><creatorcontrib>Batistella, Gabriel Novaes de Rezende</creatorcontrib><creatorcontrib>Lino, Valéria Cavalcante</creatorcontrib><creatorcontrib>Pinto, Wladimir Bocca Vieira de Rezende</creatorcontrib><creatorcontrib>Annes, Marcelo</creatorcontrib><creatorcontrib>Oliveira, Acary Souza Bulle</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>SciELO</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Arquivos de neuro-psiquiatria</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Souza, Paulo Victor Sgobbi de</au><au>Batistella, Gabriel Novaes de Rezende</au><au>Lino, Valéria Cavalcante</au><au>Pinto, Wladimir Bocca Vieira de Rezende</au><au>Annes, Marcelo</au><au>Oliveira, Acary Souza Bulle</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and genetic basis of congenital myasthenic syndromes</atitle><jtitle>Arquivos de neuro-psiquiatria</jtitle><addtitle>Arq Neuropsiquiatr</addtitle><date>2016-09</date><risdate>2016</risdate><volume>74</volume><issue>9</issue><spage>750</spage><epage>760</epage><pages>750-760</pages><issn>0004-282X</issn><issn>1678-4227</issn><eissn>1678-4227</eissn><eissn>0004-282X</eissn><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.</abstract><cop>Brazil</cop><pub>Academia Brasileira de Neurologia - ABNEURO</pub><pmid>27706425</pmid><doi>10.1590/0004-282x20160106</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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| language | eng |
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| source | SciELO |
| subjects | congenital myasthenic syndromes, genetics Diagnosis, Differential Female Humans Male Muscle Weakness - genetics Muscle Weakness - pathology Mutation myasthenia gravis Myasthenia Gravis - genetics Myasthenia Gravis - pathology Myasthenic Syndromes, Congenital - genetics Myasthenic Syndromes, Congenital - pathology NEUROSCIENCES Phenotype PSYCHIATRY |
| title | Clinical and genetic basis of congenital myasthenic syndromes |
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