Aldharee Hitham
Department of Pathology, College of Medicine, Qassim University, Buraidah, Saudi Arabia.
Front Neurol. 2024 Jul 17;15:1392274. doi: 10.3389/fneur.2024.1392274. eCollection 2024.
In the past three decades, significant improvements have occurred in the study of Duchenne muscular dystrophy (DMD). DMD is a rare, severe neuromuscular disease that causes death due to cardiovascular and respiratory complications among affected boys. Since the 1980s, ongoing preclinical and clinical studies have been conducted to explore the disease in depth and discover potential therapeutic strategies. In Saudi Arabia, it is unclear whether health services and research efforts are keeping pace with global achievements. Therefore, this review aims to explore the diagnostic and management strategies and research efforts in Saudi Arabia over the past three decades. I searched the PubMed/Medline, Scopus, and Web of Science databases and included all published articles on the epidemiology, genetics, diagnosis, and management of DMD/BMD in this review. The findings suggest a lack of local standardized diagnostic strategies, a poor understanding of epidemiology and common pathogenic variants, and a critical need for preclinical and clinical research. At the time of writing, no such comprehensive review has been published. Challenges, limitations, and future perspectives are also discussed in this article.
在过去三十年里，杜氏肌营养不良症（DMD）的研究取得了显著进展。DMD是一种罕见的严重神经肌肉疾病，受影响的男孩会因心血管和呼吸并发症而死亡。自20世纪80年代以来，一直在进行临床前和临床研究，以深入探索该疾病并发现潜在的治疗策略。在沙特阿拉伯，尚不清楚卫生服务和研究工作是否跟上了全球的成就。因此，本综述旨在探讨沙特阿拉伯过去三十年的诊断和管理策略以及研究工作。我检索了PubMed/Medline、Scopus和科学网数据库，并将所有已发表的关于DMD/BMD的流行病学、遗传学、诊断和管理的文章纳入本综述。研究结果表明，当地缺乏标准化的诊断策略，对流行病学和常见致病变异的了解不足，并且迫切需要临床前和临床研究。在撰写本文时，尚未发表过此类全面的综述。本文还讨论了挑战、局限性和未来展望。
