Department of Neurology, The Hospital for Sick Children, Toronto, Canada.
Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, Canada.
J Neurol. 2023 Aug;270(8):3946-3957. doi: 10.1007/s00415-023-11722-1. Epub 2023 May 2.
Limb girdle muscle dystrophies (LGMDs) are a group of inherited neuromuscular disorders comprising more than 20 genes. There have been increasing efforts to characterize this group with Muscle MRI. However, due to the complexity and similarities, the interpretation of the MRI patterns is usually done by experts in the field. Here, we proposed a step-by-step image interpretation of Muscle MRI in LGDM by evaluating the variability of muscle pattern involvement reported in the literature. A systematic review with an open start date to November 2022 was conducted to describe all LGMDs' muscle MRI patterns. Eighty-eight studies were included in the final review. Data were found to describe muscle MRI patterns for 15 out of 17 LGMDs types. Although the diagnosis of LGMDs is challenging despite the advanced genetic testing and other diagnostic modalities, muscle MRI is shown to help in the diagnosis of LGMDs. To further increase the yield for muscle MRI in the neuromuscular field, larger cohorts of patients need to be conducted.
肢带型肌肉营养不良症(LGMDs)是一组遗传性神经肌肉疾病,包含超过 20 个基因。肌肉磁共振成像(MRI)在该疾病的特征描述方面取得了越来越多的进展。然而,由于其复杂性和相似性,MRI 模式的解读通常由该领域的专家进行。在这里,我们通过评估文献中报道的肌肉受累模式的变异性,提出了一种肢带型肌肉营养不良症肌肉 MRI 的分步图像解读方法。一项开放起始日期为 2022 年 11 月的系统综述被用来描述所有肢带型肌肉营养不良症的肌肉 MRI 模式。最终综述纳入了 88 项研究。研究结果发现,17 种肢带型肌肉营养不良症类型中有 15 种类型的肌肉 MRI 模式有相关描述。尽管先进的基因检测和其他诊断方法使得肢带型肌肉营养不良症的诊断具有挑战性,但肌肉 MRI 被证明有助于诊断肢带型肌肉营养不良症。为了进一步提高肌肉 MRI 在神经肌肉领域的检出率,需要对更大的患者队列进行研究。