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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
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.
Afiliação
  • Megarbane A; Department of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Bizzari S; Institut Jérôme Lejeune, Paris, France.
  • Deepthi A; Centre for Arab Genomic Studies, Dubai, UAE.
  • Sabbagh S; Centre for Arab Genomic Studies, Dubai, UAE.
  • Mansour H; Department of Pediatrics, Hôtel Dieu de France Hospital, Beirut, Lebanon.
  • Chouery E; Department of Pediatrics, Saint George Hospital, Balamand University, Beirut, Lebanon.
  • Hmaimess G; Department of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Jabbour R; Department of Pediatrics, Saint George Hospital, Balamand University, Beirut, Lebanon.
  • Mehawej C; Department of Neurology, Saint George Hospital, Balamand University, Beirut, Lebanon.
  • Alame S; Department of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Hani A; Department of Neuropediatrics, Lebanese University, Beirut, Lebanon.
  • Hasbini D; Departments of Pediatrics and Neurology, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Ghanem I; Department of Pediatric Neurology, Rafic Hariri University Hospital, Beirut, Lebanon.
  • Koussa S; Department of Orthopedics, Hotel Dieu de France Hospital, Beirut, Lebanon.
  • Al-Ali MT; Department of Neurology, Geitaoui Lebanese University Hospital, Beirut, Lebanon.
  • Obeid M; Centre for Arab Genomic Studies, Dubai, UAE.
  • Talea DB; Genetic laboratory, American University of Science and Technology, Lebanon.
  • Lefranc G; Genetic laboratory, American University of Science and Technology, Lebanon.
  • Lévy N; Institut de Génétique Humaine, UMR 9002 CNRS-Université de Montpellier, France.
  • Leturcq F; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France.
  • El Hayek S; AP-HM, Département de Génétique Médicale, CHU Timone, Marseille.
  • Delague V; Service de Génétique, Hopital Cochin, Paris, France.
  • Urtizberea JA; Centre for Arab Genomic Studies, Dubai, UAE.
J Neuromuscul Dis ; 9(1): 193-210, 2022.
Article em En | MEDLINE | ID: mdl-34602496
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença dos Neurônios Motores / Distrofias Musculares Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Neuromuscul Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Líbano

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença dos Neurônios Motores / Distrofias Musculares Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Neuromuscul Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Líbano