{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T10:52:54Z","timestamp":1784890374754,"version":"3.55.0"},"reference-count":80,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T00:00:00Z","timestamp":1641254400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2022,1,4]]},"abstract":"<jats:p>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\u20132019) 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.<\/jats:p>","DOI":"10.3233\/jnd-210652","type":"journal-article","created":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T17:45:58Z","timestamp":1632851158000},"page":"193-210","source":"Crossref","is-referenced-by-count":39,"title":["A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort"],"prefix":"10.1177","volume":"9","author":[{"given":"Andre","family":"Megarbane","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon"},{"name":"Institut J\u00e9r\u00f4me Lejeune, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami","family":"Bizzari","sequence":"additional","affiliation":[{"name":"Centre for Arab Genomic Studies, Dubai, 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