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Title: Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East
Authors: Alghamdi, Fouad
Al-Tawari, Asmaa
Alrohaif, Hadil
Alshuaibi, Walaa
Mansour, Hicham
Aartsma-Rus, Annemieke
Mégarbané, André
Affiliations: Faculty of Medicine 
Keywords: DMD
Case report
Diagnostic delay
Genetic diagnosis
Neuromuscular disorder
Issue Date: 2021
Part of: Frontiers in Pediatrics
Volume: 9
The timely and accurate genetic diagnosis of Duchenne muscular dystrophy (DMD) enables prompt initiation of disease management and genetic counseling and optimal patient care. Despite the existence of best practice guidelines for the diagnosis of DMD, implementation of these recommendations in different parts of the world is challenging. Here, we present 4 unique case studies which illustrate the different diagnostic pathways of patients with DMD in Middle Eastern countries and highlight region-specific challenges to achieving timely and accurate genetic diagnosis of DMD. A lack of disease awareness and consequential failure to recognize the signs and symptoms of DMD significantly contributed to the delayed diagnoses of these patients. Additional challenges included limited available funding for genetic testing and a lack of local specialist and genetic testing centers, causing patients and their families to travel vast distances for appointments in some countries. Earlier and more accurate genetic diagnosis of DMD in this region would allow patients to benefit from effective disease management, leading to improvements in health-related quality of life.
ISSN: 2296-2360
DOI: 10.3389/fped.2021.716424
Open URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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