Department of Radiology and Diagnostic Imaging, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
Division of Musculoskeletal Imaging, Laboratório Delboni Auriemo / DASA (Diagnósticos da América SA), Barueri, SP, Brazil.
Muscle Nerve. 2022 Oct;66(4):471-478. doi: 10.1002/mus.27686. Epub 2022 Aug 10.
INTRODUCTION/AIM: The most common limb girdle muscular dystrophy (LGMD) worldwide is LGMD type R1 (LGMDR1). The aim of this study was to correlate the MRI findings with functional scores and to describe the whole-body MRI (WBMRI) pattern in a LGMDR1 Brazilian cohort.
LGMDR1 patients under follow-up in three centers were referred for the study. Clinical data were collected and a functional evaluation was performed, consisting of Gardner-Medwin and Walton (GMW) and Brooke scales. All patients underwent a WBMRI study (1.5T) with axial T1 and STIR images. Fifty-one muscles were semiquantitatively assessed regarding fatty infiltration and muscle edema.
The study group consisted of 18 patients. The highest fatty infiltration scores involved the serratus anterior, biceps femoris long head, adductor magnus, and lumbar erector spinae. There was a latero-medial and caudo-cranial descending gradient of involvement of the paravertebral muscles, with erector spinae being significantly more affected than the transversospinalis muscles (p < 0.05). A striped appearance that has been dubbed the "pseudocollagen sign" was present in 72% of the patients. There was a positive correlation between the MRI score and GMW (Rho:0.83) and Brooke (Rho:0.53) scores.
WBMRI in LGMDR1 allows a global patient evaluation including involvement of the paraspinal muscles, usually an underestimated feature in the clinical and imaging study of myopathies. Knowledge of the WBMRI pattern of LGMDR1 involvement can be useful in the diagnostic approach and in future studies to identify the best target muscles to serve as outcome measures in clinical trials.
简介/目的：全世界最常见的肢体带肌营养不良症（LGMD）是 LGMD 型 R1（LGMDR1）。本研究的目的是将 MRI 结果与功能评分相关联，并描述 LGMDR1 巴西队列的全身 MRI（WBMRI）模式。
在三个中心接受随访的 LGMDR1 患者被转介进行研究。收集临床数据并进行功能评估，包括 Gardner-Medwin 和 Walton（GMW）和 Brooke 量表。所有患者均进行全身 MRI 研究（1.5T），包括轴位 T1 和 STIR 图像。对 51 块肌肉进行半定量评估，评估脂肪浸润和肌肉水肿情况。
研究组包括 18 名患者。脂肪浸润评分最高的肌肉包括前锯肌、股二头肌长头、大收肌和腰椎竖脊肌。椎旁肌的受累呈外侧向内侧和尾侧向头侧的下降梯度，竖脊肌明显比横突间肌受累更严重（p<0.05）。72%的患者存在所谓的“假性胶原征”条纹外观。MRI 评分与 GMW（Rho：0.83）和 Brooke（Rho：0.53）评分呈正相关。
LGMDR1 的 WBMRI 可对包括椎旁肌在内的患者进行全面评估，这通常是肌肉疾病临床和影像学研究中被低估的特征。了解 LGMDR1 受累的 WBMRI 模式有助于在诊断方法和未来的研究中识别最佳的靶肌肉，作为临床试验中的疗效评估指标。
