Department of Internal Medicine, College of Medicine, King Saud University, PO Box 7805, Riyadh, 11472, Saudi Arabia.
Department of Internal Medicine, King Fahad Hospital, Ministry of Health, PO Box 42210, Madina, Saudi Arabia.
BMC Neurol. 2024 Sep 4;24(1):312. doi: 10.1186/s12883-024-03838-2.
Diagnosis of hereditary myopathy is often challenging owing to overlapping clinical phenotypes and muscle histopathological findings. This retrospective study aimed to identify the phenotypic and genotypic spectra of hereditary myopathies at a tertiary hospital in Riyadh, Saudi Arabia.
We reviewed the medical records of patients with hereditary myopathy who were evaluated between January 2018 and December 2022.
Eighty-seven patients (78 families) were included, two-thirds were men with a mean age of 35 (SD 14.2) years. Limb-girdle muscular dystrophy (LGMD) was the most prevalent clinical diagnosis (25 cases; 29%), of whom, a genetic diagnosis was achieved in 15 of 22 patients tested (68%). In genetically confirmed LGMD, the most prevalent disorders were dysferlinopathy (27%) followed by fukutin-related protein (FKRP) - related limb girdle muscular dystrophy (20%), sarcoglycanopathy (20%), lamin A/C related myopathy (13%), and calpain-3 myopathy (13%). In 26 patients with pathogenic/likely pathogenic variants, the genetic testing method was whole exome sequencing (WES) (42%), Next generation sequencing (NGS) (31%), and targeted single gene analysis (27%). The sensitivity of each genetic testing method was as follows: 100% for targeted single-gene analysis, 100% for targeted analysis of D4Z4 repeat array units, 88% for myotonic dystrophy protein kinase (DMPK) repeat expansion analysis, 42% for NGS-neuromuscular panel, and 46% for WES.
The prevalent types of hereditary myopathies were consistent with those reported locally and internationally. This study highlights the diagnostic yield of various molecular genetic tests for the diagnosis of hereditary myopathy in an adult cohort and the need for improved access to advanced molecular testing in cases suspected to have facioscapulohumeral muscular dystrophy (FSHD) or mitochondrial myopathies.
由于重叠的临床表型和肌肉组织病理学发现，遗传性肌病的诊断常常具有挑战性。本回顾性研究旨在确定沙特阿拉伯利雅得一家三级医院遗传性肌病的表型和基因型谱。
我们回顾了 2018 年 1 月至 2022 年 12 月期间评估的遗传性肌病患者的病历。
共纳入 87 例（78 个家系）患者，其中三分之二为男性，平均年龄为 35 岁（标准差 14.2）。肢带型肌营养不良症（LGMD）是最常见的临床诊断（25 例；29%），其中 22 例患者中有 15 例（68%）进行了基因检测。在基因确诊的 LGMD 中，最常见的疾病是 dysferlinopathy（27%），其次是 fukutin-related protein（FKRP）相关肢带型肌营养不良症（20%）、sarcoglycanopathy（20%）、lamin A/C 相关肌病（13%）和 calpain-3 肌病（13%）。在 26 例有致病性/可能致病性变异的患者中，基因检测方法为全外显子组测序（WES）（42%）、下一代测序（NGS）（31%）和靶向单基因分析（27%）。每种基因检测方法的灵敏度如下：靶向单基因分析 100%、D4Z4 重复单元靶向分析 100%、肌强直性营养不良蛋白激酶（DMPK）重复扩展分析 88%、神经肌肉组 NGS 检测 42%、WES 检测 46%。
遗传性肌病的常见类型与当地和国际报道的一致。本研究强调了各种分子遗传学检测在诊断成年患者遗传性肌病中的诊断效果，并需要改善对疑似面肩肱型肌营养不良症（FSHD）或线粒体肌病患者进行高级分子检测的途径。
