Retrospective Clinical Survey of Hereditary Neuromuscular Disorders in Lebanon

Clinical Score: 0.900 Price: $0.50 hereditary neuromuscular disorders Lebanese patients Status: proposed

What This Experiment Tests

Clinical experiment designed to assess clinical efficacy targeting N/A in Lebanese patients. Primary outcome: prevalence and molecular characterization of neuromuscular disorders

Description

This retrospective clinical study analyzed 20 years of clinical and molecular data from patients referred for neuromuscular disorder consultations in Lebanon (1999-2019). The study aimed to characterize the occurrence, frequency, and molecular basis of inherited neuromuscular disorders in the Lebanese population. Researchers reviewed clinical records and molecular diagnostic data from a multi-disciplinary neuromuscular consultation service, identifying 506 patients with 62 different neuromuscular disorders across 10 classes. The study included comprehensive molecular analysis identifying 103 variants in 49 genes. Special attention was given to the most prevalent conditions including spinal muscular atrophy (SMA), Duchenne and Becker muscular dystrophy, limb girdle muscular dystrophy, and Charcot-Marie-Tooth disease. The research also estimated disease incidence rates for the Lebanese population and compared findings with international literature. This work represents the first comprehensive overview of hereditary neuromuscular disorders in Lebanon, addressing a significant gap in regional clinical and epidemiological data.

TARGET GENE
N/A
MODEL SYSTEM
Lebanese patients
ESTIMATED COST
$0
TIMELINE
0 months
PATHWAY
neuromuscular system
SOURCE
extracted_from_pmid_34602496
PRIMARY OUTCOME
prevalence and molecular characterization of neuromuscular disorders

Scoring Dimensions

Info Gain 0.00 (25%) Feasibility 0.00 (20%) Hyp Coverage 0.00 (20%) Cost Effect. 0.00 (15%) Novelty 0.00 (10%) Ethical Safety 0.00 (10%) 0.900 composite

📖 Wiki Pages

Becker Muscular DystrophydiseaseCharcot-Marie-Tooth DiseasediseaseMuscular DystrophydiseaseSpinal Muscular Atrophy (SMA)diseaseResearchersindexGenes Overviewgene

Protocol

Retrospective review of clinical and molecular data from multi-disciplinary neuromuscular consultations over 20-year period (1999-2019). Data collection included clinical diagnoses, molecular testing results, and genetic variant identification across multiple neuromuscular disorder categories.

Expected Outcomes

Characterization of neuromuscular disorder prevalence and genetic variants in Lebanese population

Success Criteria

Identification and classification of neuromuscular disorders with molecular confirmation where possible

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