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

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 (SM

SUBMITTER: Megarbane A 

PROVIDER: S-EPMC8842757 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature