Department of Physical Therapy, University of Florida, Gainesville, Florida, USA.
Division of Pulmonology, Department of Pediatrics at the time of the study, University of Florida, Gainesville, Florida, USA.
Muscle Nerve. 2024 Nov;70(5):988-999. doi: 10.1002/mus.28235. Epub 2024 Sep 2.
INTRODUCTION/AIMS: The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imaging (MRI), functional assessments, and patient-reported outcomes.
Controls and females with dystrophinopathy with muscle symptoms of pain, weakness, fatigue, or excessive tightness were enrolled in this cross-sectional study. Participants underwent lower extremity MRI to quantify muscle inflammation, replacement by fat, and disease asymmetry. Cardiac MRI, functional ability, muscle symptoms, and serum creatine kinase levels were also evaluated.
Six pediatric females with dystrophinopathy (mean age: 11.7 years), 11 adult females with dystrophinopathy (mean age: 41.3 years), and seven controls enrolled. The mean fat fraction was increased in females with dystrophinopathy compared to controls in the soleus (0.11 vs. 0.03, p = .0272) and vastus lateralis (0.16 vs. 0.03, p = .004). Magnetic resonance spectroscopy water T, indicative of muscle inflammation, was elevated in the soleus and/or vastus lateralis in 11 of 17 individuals. North Star Ambulatory Assessment score was lower in the dystrophinopathy group compared to controls (29 vs. 34 points, p = .0428). From cardiac MRI, left ventricle T relaxation times were elevated in females with dystrophinopathy compared to controls (1311 ± 55 vs. 1263 ± 25 ms, p < .05), but ejection fraction and circumferential strain did not differ.
Symptomatic females with dystrophinopathy quantitatively demonstrate muscle replacement by fat and inflammation, along with impairments in functional ability and cardiac function. Additional research is needed to evaluate how symptoms and muscle involvement change longitudinally.
介绍/目的：肌营养不良症主要影响男性；然而，携带致病性肌营养不良变异的女性携带者可能会出现骨骼肌症状。本研究旨在使用定量磁共振成像（MRI）、功能评估和患者报告的结果来评估肌营养不良症女性的肌肉受累和症状。
本横断面研究纳入了有肌肉疼痛、无力、疲劳或过度紧张等症状的肌营养不良症女性对照和患者。参与者接受下肢 MRI 检查以定量评估肌肉炎症、脂肪替代和疾病不对称性。还评估了心脏 MRI、功能能力、肌肉症状和血清肌酸激酶水平。
共纳入 6 名儿科肌营养不良症女性（平均年龄：11.7 岁）、11 名成年肌营养不良症女性（平均年龄：41.3 岁）和 7 名对照。与对照组相比，肌营养不良症女性的比目鱼肌和/或股外侧肌脂肪分数增加（0.11 比 0.03，p=0.0272）。磁共振波谱水 T 升高，提示肌肉炎症，17 人中有 11 人在比目鱼肌和/或股外侧肌出现这种情况。与对照组相比，肌营养不良症组的北美星日常活动评估评分较低（29 分比 34 分，p=0.0428）。与对照组相比，肌营养不良症女性的左心室 T 弛豫时间延长（1311±55 毫秒比 1263±25 毫秒，p<0.05），但射血分数和周向应变无差异。
有症状的肌营养不良症女性表现出肌肉脂肪替代和炎症，以及功能能力和心脏功能受损。需要进一步研究以评估症状和肌肉受累如何随时间纵向变化。
