目的:肌萎缩蛋白病主要影响男性;然而,致病性肌营养不良蛋白变异体的女性携带者可出现骨骼肌症状。本研究旨在使用定量磁共振成像(MRI)评估患有肌营养不良症的女性的肌肉受累和症状,功能评估,和患者报告的结果。
方法:对照组和女性患有肌萎缩蛋白病并伴有肌肉疼痛症状,弱点,疲劳,或过度紧张纳入本横断面研究.参与者接受了下肢MRI以量化肌肉炎症,用脂肪代替,疾病不对称。心脏MRI,功能能力,肌肉症状,和血清肌酸激酶水平也进行了评估。
结果:六名患有肌萎缩蛋白病的儿科女性(平均年龄:11.7岁),11名成年女性患有肌萎缩蛋白病(平均年龄:41.3岁),和七个控制登记。与比目鱼对照相比,患有肌萎缩蛋白病的女性的平均脂肪含量增加(0.11vs.0.03,p=.0272)和股外侧肌(0.16vs.0.03,p=.004)。磁共振波谱水T2,指示肌肉炎症,在17个个体中的11个中,比目鱼肌和/或股外侧肌升高。与对照组相比,肌营养不良病患者组的NorthStar动态评估得分较低(29vs.34分,p=.0428)。心脏核磁共振,与对照组相比,患有肌萎缩蛋白病的女性左心室T1弛豫时间升高(1311±55vs.1263±25ms,p<.05),但是射血分数和周向应变没有差异。
结论:有症状的肌萎缩蛋白病女性在数量上证明了脂肪和炎症对肌肉的替代作用,以及功能能力和心脏功能的损害。需要更多的研究来评估症状和肌肉受累如何纵向变化。
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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 T2, 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 T1 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.
CONCLUSIONS: 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.