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Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants
Congenital myasthenic syndromes are a group of rare genetic disorders affecting neuromuscular transmission. A high index of suspicion is required as clinical manifestations can be variable and nonspecific. Clinical phenotype includes arthrogryposis, respiratory crises, facial deformities, and weakne...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296406/ https://www.ncbi.nlm.nih.gov/pubmed/22408661 http://dx.doi.org/10.4103/1817-1745.92832 |
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author | Khan, Arif Hussain, Nahin Gosalakkal, Jayaprakash A. |
author_facet | Khan, Arif Hussain, Nahin Gosalakkal, Jayaprakash A. |
author_sort | Khan, Arif |
collection | PubMed |
description | Congenital myasthenic syndromes are a group of rare genetic disorders affecting neuromuscular transmission. A high index of suspicion is required as clinical manifestations can be variable and nonspecific. Clinical phenotype includes arthrogryposis, respiratory crises, facial deformities, and weakness. With the availability of molecular genetics, this group of conditions can now be more clearly delineated and targeted treatment can be initiated. We describe three children who presented with bulbar difficulties and had Cholinergic receptor, nicotinic, and epsilon or receptor associated protein of the synapse mutations. |
format | Online Article Text |
id | pubmed-3296406 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-32964062012-03-09 Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants Khan, Arif Hussain, Nahin Gosalakkal, Jayaprakash A. J Pediatr Neurosci Case Report Congenital myasthenic syndromes are a group of rare genetic disorders affecting neuromuscular transmission. A high index of suspicion is required as clinical manifestations can be variable and nonspecific. Clinical phenotype includes arthrogryposis, respiratory crises, facial deformities, and weakness. With the availability of molecular genetics, this group of conditions can now be more clearly delineated and targeted treatment can be initiated. We describe three children who presented with bulbar difficulties and had Cholinergic receptor, nicotinic, and epsilon or receptor associated protein of the synapse mutations. Medknow Publications & Media Pvt Ltd 2011 /pmc/articles/PMC3296406/ /pubmed/22408661 http://dx.doi.org/10.4103/1817-1745.92832 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Khan, Arif Hussain, Nahin Gosalakkal, Jayaprakash A. Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants |
title | Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants |
title_full | Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants |
title_fullStr | Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants |
title_full_unstemmed | Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants |
title_short | Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants |
title_sort | bulbar dysfunction: an early presentation of congenital myasthenic syndrome in three infants |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296406/ https://www.ncbi.nlm.nih.gov/pubmed/22408661 http://dx.doi.org/10.4103/1817-1745.92832 |
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