A 20-year clinical and genetic neuromuscular cohort analysis in Lebanon: an international effort

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dc.contributor.author Megarbane, Andre
dc.contributor.author Bizzari, Sami
dc.contributor.author Deepthi, Asha
dc.contributor.author Sabbagh, Sandra
dc.contributor.author Mansour, Hicham
dc.contributor.author Chouery, Eliane
dc.contributor.author Hmaimess, Ghassan
dc.contributor.author Jabbour, Rosette
dc.contributor.author Mehawej, Cybel
dc.contributor.author Alame, Saada
dc.contributor.author Hani, Abeer
dc.contributor.author Hasbini, Dana
dc.contributor.author Ghanem, Ismat
dc.contributor.author Koussa, Salam
dc.date.accessioned 2022-07-07T11:17:48Z
dc.date.available 2022-07-07T11:17:48Z
dc.date.copyright 2022 en_US
dc.date.issued 2022-07-07
dc.identifier.issn 2214-3599 en_US
dc.identifier.uri http://hdl.handle.net/10725/13796
dc.description.abstract 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. en_US
dc.language.iso en en_US
dc.title A 20-year clinical and genetic neuromuscular cohort analysis in Lebanon: an international effort en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SOM en_US
dc.author.idnumber 201509120 en_US
dc.author.department N/A en_US
dc.relation.journal Journal of Neuromuscular Diseases en_US
dc.journal.volume 9 en_US
dc.journal.issue 1 en_US
dc.article.pages 193-210 en_US
dc.keywords Genetics en_US
dc.keywords Lebanon en_US
dc.keywords Neuromuscular en_US
dc.keywords SMA en_US
dc.keywords DMD en_US
dc.keywords LGMD en_US
dc.keywords CMT en_US
dc.keywords FSHD en_US
dc.identifier.doi https://doi.org/10.3233/JND-210652 en_US
dc.identifier.ctation Megarbane, A., Bizzari, S., Deepthi, A., Sabbagh, S., Mansour, H., Chouery, E., ... & Urtizberea, A. (2022). A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. Journal of Neuromuscular Diseases, 9(1), 193-210. en_US
dc.author.email abeer.hani@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd210652 en_US
dc.orcid.id https://orcid.org/0000-0002-5058-5823 en_US
dc.author.affiliation Lebanese American University en_US

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