Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant in two Egyptian siblings showing a CMS. Interestin...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-06-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.909715/full |
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| author | Marta Gómez-García de la Banda Marta Gómez-García de la Banda Marta Gómez-García de la Banda Emmanuel Simental-Aldaba Emmanuel Simental-Aldaba Nagia Fahmy Damien Sternberg Damien Sternberg Patricia Blondy Susana Quijano-Roy Susana Quijano-Roy Susana Quijano-Roy Susana Quijano-Roy Edoardo Malfatti Edoardo Malfatti Edoardo Malfatti Edoardo Malfatti |
| author_facet | Marta Gómez-García de la Banda Marta Gómez-García de la Banda Marta Gómez-García de la Banda Emmanuel Simental-Aldaba Emmanuel Simental-Aldaba Nagia Fahmy Damien Sternberg Damien Sternberg Patricia Blondy Susana Quijano-Roy Susana Quijano-Roy Susana Quijano-Roy Susana Quijano-Roy Edoardo Malfatti Edoardo Malfatti Edoardo Malfatti Edoardo Malfatti |
| author_sort | Marta Gómez-García de la Banda |
| collection | DOAJ |
| description | Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant in two Egyptian siblings showing a CMS. Interestingly, they showed different degrees of extraocular and skeletal muscle involvement; both presented only a partial response to cholinesterase inhibitors, and rapidly and substantially ameliorated after the addition of oral β2 adrenergic agonists. Here, we enlarge the genetic spectrum of CHRNE-related congenital myasthenic syndromes and highlight the importance of a β2 adrenergic agonists treatment. |
| first_indexed | 2024-12-12T19:38:29Z |
| format | Article |
| id | doaj.art-2d021aa9abe64deb8d77e3147c6f7f0a |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-12T19:38:29Z |
| publishDate | 2022-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-2d021aa9abe64deb8d77e3147c6f7f0a2022-12-22T00:14:15ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-06-011310.3389/fneur.2022.909715909715Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian SiblingsMarta Gómez-García de la Banda0Marta Gómez-García de la Banda1Marta Gómez-García de la Banda2Emmanuel Simental-Aldaba3Emmanuel Simental-Aldaba4Nagia Fahmy5Damien Sternberg6Damien Sternberg7Patricia Blondy8Susana Quijano-Roy9Susana Quijano-Roy10Susana Quijano-Roy11Susana Quijano-Roy12Edoardo Malfatti13Edoardo Malfatti14Edoardo Malfatti15Edoardo Malfatti16Pediatric Neurology and ICU Department, AP-HP Université Paris Saclay, Hôpital Raymond Poincaré, Garches, FranceReference Center for Neuromuscular Diseases Centre “Nord- Est- Ile de France”, FILNEMUS, Creteil, FranceEuropean Reference Center Network (Euro-NMD ERN), Paris, FranceAPHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor University Hospital, Créteil, FranceDepartment of Neurorehabilitation, Instituto Nacional de Rehabilitación “LGII”, Mexico City, MexicoNeuromuscular Unit, Faculty of Medicine, Ain Shams University, Cairo, EgyptEuropean Reference Center Network (Euro-NMD ERN), Paris, FranceService de Biochimie Métabolique, Centre de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, FranceEuropean Reference Center Network (Euro-NMD ERN), Paris, FrancePediatric Neurology and ICU Department, AP-HP Université Paris Saclay, Hôpital Raymond Poincaré, Garches, FranceReference Center for Neuromuscular Diseases Centre “Nord- Est- Ile de France”, FILNEMUS, Creteil, FranceEuropean Reference Center Network (Euro-NMD ERN), Paris, FranceCentre de Recherche en Myologie, UMRS974, Paris, FranceReference Center for Neuromuscular Diseases Centre “Nord- Est- Ile de France”, FILNEMUS, Creteil, FranceAPHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor University Hospital, Créteil, FranceUniv Paris Est Créteil, INSERM, IMRB, Créteil, France0AP-HP, Hôpital Mondor, Service d'histologie, Créteil, FranceCongenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant in two Egyptian siblings showing a CMS. Interestingly, they showed different degrees of extraocular and skeletal muscle involvement; both presented only a partial response to cholinesterase inhibitors, and rapidly and substantially ameliorated after the addition of oral β2 adrenergic agonists. Here, we enlarge the genetic spectrum of CHRNE-related congenital myasthenic syndromes and highlight the importance of a β2 adrenergic agonists treatment.https://www.frontiersin.org/articles/10.3389/fneur.2022.909715/fullcongenital myasthenic syndromeCHRNEneuromuscular junctionβ2 adrenergic agonistssalbutamol |
| spellingShingle | Marta Gómez-García de la Banda Marta Gómez-García de la Banda Marta Gómez-García de la Banda Emmanuel Simental-Aldaba Emmanuel Simental-Aldaba Nagia Fahmy Damien Sternberg Damien Sternberg Patricia Blondy Susana Quijano-Roy Susana Quijano-Roy Susana Quijano-Roy Susana Quijano-Roy Edoardo Malfatti Edoardo Malfatti Edoardo Malfatti Edoardo Malfatti Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings Frontiers in Neurology congenital myasthenic syndrome CHRNE neuromuscular junction β2 adrenergic agonists salbutamol |
| title | Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings |
| title_full | Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings |
| title_fullStr | Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings |
| title_full_unstemmed | Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings |
| title_short | Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings |
| title_sort | case report a novel achr epsilon variant causing a clinically discordant salbutamol responsive congenital myasthenic syndrome in two egyptian siblings |
| topic | congenital myasthenic syndrome CHRNE neuromuscular junction β2 adrenergic agonists salbutamol |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.909715/full |
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