1. A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
- Author
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Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, and Urtizberea JA
- Subjects
- Adolescent, Adult, Charcot-Marie-Tooth Disease epidemiology, Charcot-Marie-Tooth Disease genetics, Child, Child, Preschool, Female, Humans, Infant, Lebanon epidemiology, Male, Middle Aged, Muscular Atrophy, Spinal epidemiology, Muscular Atrophy, Spinal genetics, Muscular Dystrophies, Limb-Girdle epidemiology, Muscular Dystrophies, Limb-Girdle genetics, Muscular Dystrophy, Duchenne epidemiology, Muscular Dystrophy, Duchenne genetics, Retrospective Studies, Young Adult, Motor Neuron Disease epidemiology, Motor Neuron Disease genetics, Muscular Dystrophies epidemiology, Muscular Dystrophies genetics
- 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.
- Published
- 2022
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