ArticleFrontiers in pediatrics2021
Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East.
Article in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 12 citations in OpenAlex.
- Examining the emotional impact and financial strain on caregivers of those with Duchenne muscular dystrophy in Saudi Arabia: findings from a questionnaire-based cross-sectional study.Frontiers in psychology · 2026Article
- Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study.Frontiers in pediatrics · 2025Article
- Segregation of theGenes · 2024Article
- Duchenne muscular dystrophy in Saudi Arabia: a review of the current literature.Frontiers in neurology · 2024Review
- Development of Essential Oil Delivery Systems by 'Click Chemistry' Methods: Possible Ways to Manage Duchenne Muscular Dystrophy.Materials (Basel, Switzerland) · 2023Review
- Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family.Molecular syndromology · 2023Article
- Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements.Journal of neuromuscular diseases · 2023Article
- An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient.International journal of molecular sciences · 2022Article
- Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia.Frontiers in pediatrics · 2022Article
- Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia.Frontiers in pediatrics · 2022Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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