Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy

医学 杜氏肌营养不良 磁共振成像 肌酸激酶 肌肉无力 内科学 法布里病 骨骼肌 心脏病学 肌营养不良蛋白 肌营养不良 放射科 疾病
作者
Breana M. Jenkins,Lathan D. Dixon,Kevin J. Kokesh,Carla D. Zingariello,Krista Vandenborne,Glenn A. Walter,Alison M. Barnard
出处
期刊:Muscle & Nerve [Wiley]
卷期号:70 (5): 988-999
标识
DOI:10.1002/mus.28235
摘要

Abstract 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. 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 T 2 , 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 1 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. Discussion 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.
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