Algahtani Hussein, Shirah Bader, Alassiri Ali H, Habib Ben Attia, Almuhanna Rakan, Ahamed Mohamed Firoze
King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
J Back Musculoskelet Rehabil. 2018;31(5):999-1004. doi: 10.3233/BMR-181129.
Dysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance. In this article, we report a case of Limb-girdle muscular dystrophy type 2B with a rare homozygous duplication c.164dupA, p.(Ile57Hisfs*8) (rs863225020) in DYSF in a Saudi patient. To the best of our knowledge, this is the first case from Saudi Arabia with complete clinical data, pathology findings, radiology findings, and genetic analysis. Although there is no curative treatment for this disease, an accurate diagnosis is important to avoid using steroids and immunosuppressive medications, which are not effective and may have several side effects. Further studies are needed to explore potential therapies for this rare condition.
肢带型肌营养不良症2B型（LGMD2B）是一组以骨骼肌中缺乏dysferlin为特征的神经肌肉疾病。它是一种由dysferlin基因（DYSF）突变引起的遗传性疾病，呈常染色体隐性遗传模式。在本文中，我们报告了一名沙特患者，其患有肢带型肌营养不良症2B型，DYSF基因存在罕见的纯合重复c.164dupA，p.（Ile57Hisfs*8）（rs863225020）。据我们所知，这是沙特阿拉伯首例具有完整临床数据、病理结果、影像学结果和基因分析的病例。尽管这种疾病尚无治愈方法，但准确诊断对于避免使用无效且可能有多种副作用的类固醇和免疫抑制药物很重要。需要进一步研究以探索针对这种罕见病症的潜在治疗方法。
