Current status of congenital myasthenic syndromes

Since Engel reported the first case of congenital myasthenia in 1977 and the first pathogenic gene was found in 1995, knowledge about congenital myasthenic syndromes has continued to grow. Over the years, the pathogenic basis, its clinical features, the phenotype-genotype correlations that have been...

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Authors: Bestue-Cardiel M, Natera-de Benito D
Format: article
Status:Published version
Publication Date:2017
Country:España
Institution:Fundació Sant Joan de Déu
Repository:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p12722
Online Access:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12722
Access Level:Open access
Keyword:Classification
Clinical symptoms
Congenital myasthenic syndrome
Genetic mutations
Neuromuscular junction proteins
N-glycosylation pathway
Therapy
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spelling Current status of congenital myasthenic syndromesBestue-Cardiel MNatera-de Benito DClassificationClinical symptomsCongenital myasthenic syndromeGenetic mutationsNeuromuscular junction proteinsN-glycosylation pathwayTherapySince Engel reported the first case of congenital myasthenia in 1977 and the first pathogenic gene was found in 1995, knowledge about congenital myasthenic syndromes has continued to grow. Over the years, the pathogenic basis, its clinical features, the phenotype-genotype correlations that have been established and its therapeutic management have all been described. In this group of diseases the safety margin of neuromuscular transmission is altered by different mechanisms: in the synthesis or storage of acetylcholine quanta in the synaptic vesicles, in the calcium-mediated release of acetylcholine in the nerve terminal or in the efficiency of the quantum released to generate a post-synaptic depolarisation. Increased knowledge about them has enabled a number of different therapeutic strategies to be established. In this review the main updates on these syndromes are reported, including: the genes described as classifying 50% of cases, their current classification based on the localisation of the proteins that alter neuromuscular transmission, including a new group of congenital myasthenias, glycosylation disorders, the main key diagnoses and the therapeutic management of this group of under-diagnosed patients.IMR PRESS2017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12722REVISTA DE NEUROLOGIAISSN: 02100010ISSNe: 15766578reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuEspañolinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p127222026-05-27T12:37:41Z
dc.title.none.fl_str_mv Current status of congenital myasthenic syndromes
title Current status of congenital myasthenic syndromes
spellingShingle Current status of congenital myasthenic syndromes
Bestue-Cardiel M
Classification
Clinical symptoms
Congenital myasthenic syndrome
Genetic mutations
Neuromuscular junction proteins
N-glycosylation pathway
Therapy
title_short Current status of congenital myasthenic syndromes
title_full Current status of congenital myasthenic syndromes
title_fullStr Current status of congenital myasthenic syndromes
title_full_unstemmed Current status of congenital myasthenic syndromes
title_sort Current status of congenital myasthenic syndromes
dc.creator.none.fl_str_mv Bestue-Cardiel M
Natera-de Benito D
author Bestue-Cardiel M
author_facet Bestue-Cardiel M
Natera-de Benito D
author_role author
author2 Natera-de Benito D
author2_role author
dc.subject.none.fl_str_mv Classification
Clinical symptoms
Congenital myasthenic syndrome
Genetic mutations
Neuromuscular junction proteins
N-glycosylation pathway
Therapy
topic Classification
Clinical symptoms
Congenital myasthenic syndrome
Genetic mutations
Neuromuscular junction proteins
N-glycosylation pathway
Therapy
description Since Engel reported the first case of congenital myasthenia in 1977 and the first pathogenic gene was found in 1995, knowledge about congenital myasthenic syndromes has continued to grow. Over the years, the pathogenic basis, its clinical features, the phenotype-genotype correlations that have been established and its therapeutic management have all been described. In this group of diseases the safety margin of neuromuscular transmission is altered by different mechanisms: in the synthesis or storage of acetylcholine quanta in the synaptic vesicles, in the calcium-mediated release of acetylcholine in the nerve terminal or in the efficiency of the quantum released to generate a post-synaptic depolarisation. Increased knowledge about them has enabled a number of different therapeutic strategies to be established. In this review the main updates on these syndromes are reported, including: the genes described as classifying 50% of cases, their current classification based on the localisation of the proteins that alter neuromuscular transmission, including a new group of congenital myasthenias, glycosylation disorders, the main key diagnoses and the therapeutic management of this group of under-diagnosed patients.
publishDate 2017
dc.date.none.fl_str_mv 2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12722
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12722
dc.language.none.fl_str_mv Español
language_invalid_str_mv Español
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv IMR PRESS
publisher.none.fl_str_mv IMR PRESS
dc.source.none.fl_str_mv REVISTA DE NEUROLOGIA
ISSN: 02100010
ISSNe: 15766578
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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