Characteristics of amyotrophic lateral sclerosis in Lebanon-a chart review

Malek, Elia; Ismail, Helen; Doumiati, Hassan; Salameh, Johnny

doi:10.1080/21678421.2020.1788095

Cited by 1 publication

(1 citation statement)

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“…Literature from Lebanon is lacking, however the country has joined other regions in clinical trials for ALS modifying treatments [ 26 ]. A recent clinical study of ALS, which described 140 patients from Lebanon, revealed 113 patients with ALS and a lower mean age of onset relative to global reports, with the remaining patients presenting with six subtypes of atypical ALS [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Mégarbané

Bizzari

Deepthi

et al. 2022

JND

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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). The latter 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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Section: Discussionmentioning

confidence: 99%