Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Neurology, Rotterdam, the Netherlands; Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Paediatrics, Rotterdam, the Netherlands.
Erasmus MC, University Medical Center Rotterdam, Department of Radiology and Nuclear Medicine, Rotterdam, the Netherlands; Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Department of Respiratory Medicine and Allergology, Rotterdam, the Netherlands.
Neuromuscul Disord. 2022 Jan;32(1):15-24. doi: 10.1016/j.nmd.2021.11.001. Epub 2021 Nov 9.
The aim of this exploratory study was to evaluate diaphragmatic function across various neuromuscular diseases using spirometry-controlled MRI. We measured motion of the diaphragm relative to that of the thoracic wall (cranial-caudal ratio vs. anterior posterior ratio; CC-AP ratio), and changes in the diaphragmatic curvature (diaphragm height and area ratio) during inspiration in 12 adults with a neuromuscular disease having signs of respiratory muscle weakness, 18 healthy controls, and 35 adult Pompe patients - a group with prominent diaphragmatic weakness. CC-AP ratio was lower in patients with myopathies (n=7, 1.25±0.30) and motor neuron diseases (n=5, 1.30±0.10) than in healthy controls (1.37±0.14; p=0.001 and p=0.008), but not as abnormal as in Pompe patients (1.12±0.18; p=0.011 and p=0.024). The mean diaphragm height ratio was 1.17±0.33 in patients with myopathies, pointing at an insufficient diaphragmatic contraction. This was also seen in patients with Pompe disease (1.28±0.36), but not in healthy controls (0.82±0.33) or patients with motor neuron disease (0.82±0.24). We conclude that spirometry-controlled MRI enables us to investigate respiratory dysfunction across neuromuscular diseases, suggesting that the diaphragm is affected in a different way in myopathies and motor neuron diseases. Whether MRI can also be used to evaluate progression of diaphragmatic dysfunction requires additional studies.
本探索性研究旨在使用呼吸量测定控制的 MRI 评估各种神经肌肉疾病中的膈肌功能。我们测量了膈肌相对于胸壁的运动（前后比与颅尾比；CC-AP 比），以及在呼吸过程中膈肌曲率的变化（膈肌高度和面积比），纳入 12 名有呼吸肌无力迹象的神经肌肉疾病成人患者、18 名健康对照者和 35 名成年庞贝病患者（一组膈肌明显无力的患者）。肌病患者（n=7，1.25±0.30）和运动神经元病患者（n=5，1.30±0.10）的 CC-AP 比值低于健康对照者（1.37±0.14；p=0.001 和 p=0.008），但不及庞贝病患者异常（1.12±0.18；p=0.011 和 p=0.024）。肌病患者的平均膈肌高度比为 1.17±0.33，表明膈肌收缩不足。这在庞贝病患者中也可见到（1.28±0.36），但在健康对照者（0.82±0.33）或运动神经元病患者（0.82±0.24）中则不可见。我们得出结论，呼吸量测定控制的 MRI 使我们能够研究神经肌肉疾病中的呼吸功能障碍，表明膈肌在肌病和运动神经元病中受到不同的影响。MRI 是否也可用于评估膈肌功能障碍的进展，尚需进一步研究。
