Open AccessA 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Author(s) -
André Mégarbané,
Sami Bizzari,
Asha Deepthi,
Sandra Sabbagh,
Hicham Mansour,
Éliane Chouery,
Ghassan Hmaimess,
Rosette Jabbour,
Cybel Mehawej,
Saada Alame,
Abeer J. Hani,
Dana Hasbini,
Ismat Ghanem,
Salam Koussa,
Mahmoud Taleb AlAli,
Marc Obeid,
Diana Bou Talea,
Gérard Lefranc,
Nicolas Lévy,
F. Leturcq,
Stephany ElHayek,
Valérie Delague,
Jon Andoni Urtizberea
Publication year - 2022
Publication title -
journal of neuromuscular diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.366
H-Index - 23
eISSN - 2214-3602
pISSN - 2214-3599
DOI - 10.3233/jnd-210652
Subject(s) - medicine , spinal muscular atrophy , neuromuscular disease , pediatrics , myotonic dystrophy , cohort , limb girdle muscular dystrophy , incidence (geometry) , population , retrospective cohort study , disease , sma* , muscular dystrophy , pes cavus , genetics , complication , mutation , physics , environmental health , biology , optics , gene , mathematics , combinatorics
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.