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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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2016-09, Vol.74 (9), p.750-760
Main Authors: 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
Format: Article
Language:English
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
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Summary: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.
ISSN:0004-282X
1678-4227
1678-4227
0004-282X
DOI:10.1590/0004-282x20160106