A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
In: ISSN: 2214-3599, 2022
Online
academicJournal
Zugriff:
International audience ; Background:Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce.Objective:This study aims to provide a retrospective overview of hereditary NMDs based on our clinical consultations in Lebanon.Methods:Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999–2019) was reviewed.Results:A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes were identified. In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). We estimate a high SMA incidence of 1 in 7,500 births in Lebanon. Duchenne and Becker muscular dystrophy were the second most frequently diagnosed NMDs (17% of patients). These disorders were associated with the highest number of variants (39) identified in this study. A highly heterogeneous presentation of Limb Girdle Muscular Dystrophy and Charcot-Marie-Tooth disease was notably identified. The least common disorders (5.5% of patients) involved congenital, metabolic, and mitochondrial myopathies, congenital myasthenic syndromes, and myotonic dystrophies. A review of the literature for selected NMDs in Lebanon is provided.Conclusions:Our study indicates a high prevalence and underreporting of heterogeneous forms of NMDs in Lebanon- a major challenge with many novel NMD treatments in the pipeline. This report calls for a regional NMD patient registry.
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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
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Autor/in / Beteiligte Person: | Megarbane, Andre ; Bizzari, Sami ; Deepthi, Asha ; Sabbagh, Sandra ; Mansour, Hicham ; Chouery, Eliane ; Hmaimess, Ghassan ; Jabbour, Rosette ; Mehawej, Cybel ; Alame, Saada ; Hani, Abeer ; Hasbini, Dana ; Ghanem, Ismat ; Koussa, Salam ; Al-Ali, Mahmoud, Taleb ; Obeid, Marc ; Talea, Diana, Bou ; Lefranc, Gerard ; Lévy, Nicolas ; Leturcq, France ; El Hayek, Stephany ; Delague, Valérie ; Urtizberea, J., Andoni ; Human Genetics Department LAU Gilbert and Rose-Marie Chagoury School of Medicine ; Gilbert and Rose-Marie Chagoury School of Medicine Lebanese American University ; Lebanese American University (LAU)-Lebanese American University (LAU) ; Institut Jérôme Lejeune ; Centre for Arab Genomic Studies (CAGS) ; Hôtel-Dieu de France (HDF) ; Université Saint-Joseph de Beyrouth (USJ) ; Saint George Hospital University Medical Center UOB, LIBAN ; University of Balamand Liban (UOB) ; الجامعة اللبنانية بيروت = Lebanese University Beirut = Université libanaise Beyrouth (LU / ULB) ; Lebanese American University (LAU) ; Neuropediatrics Department Beirut, Lebanon ; Rafic Hariri University Hospital Beirut, Lebanon ; Department of Neurology, Lebanese University Hospital-Geitaoui ; Department of Laboratory Science and Technology ; American University of Science and Technology (AUST) ; Institut de génétique humaine (IGH) ; Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM) ; Marseille medical genetics - Centre de génétique médicale de Marseille (MMG) ; Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM) ; Hôpital de la Timone CHU - APHM (TIMONE) ; Service de biochimie et de génétique moléculaire CHU Cochin ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin AP-HP ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) ; Institut de Myologie ; Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS) |
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Zeitschrift: | ISSN: 2214-3599, 2022 |
Veröffentlichung: | HAL CCSD ; IOS Press, 2022 |
Medientyp: | academicJournal |
DOI: | 10.3233/JND-210652 |
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