Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del sacro Cuore, Rome, Italy.
Department of Radiology, Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del sacro Cuore, Rome, Italy.
PLoS One. 2018 Jun 20;13(6):e0199222. doi: 10.1371/journal.pone.0199222. eCollection 2018.
The aim of the study was to evaluate the spectrum of upper limb functional activities and imaging finding in a cohort of patients affected by Duchenne muscular dystrophy. Thirty-one patients of age between 5 and 29 years were included in the study (17 ambulant and 14 non-ambulant). They were all assessed using the Performance of Upper Limb (PUL) test and muscle MRI of shoulder, arm and forearm in order to establish if the functional scores obtained at shoulder, mid and distal level related to specific patterns of involvement in each upper limb segment on muscle MRI. At shoulder level, latissimus dorsi, serratus anterior, infraspinatus and subscapularis were always involved, even in patients with full functional scores at shoulder level. Diffuse and severe involvement of all muscles was found in the patients with a PUL shoulder functional score of ≤ 5. At arm level biceps brachii, brachialis and triceps were generally concordantly involved or spared. Some degree of involvement could already be detected in patients with reduced scores on the PUL mid domain. They were generally severely involved in patients with functional scores less than 6 at mid-level. At distal level supinator and pronator muscles were often involved, followed by brachioradialis and, less frequently, by the muscles of the flexor compartment. The extensor muscles were generally completely spared. A diffuse and severe involvement was found only in patients who had very low scores (8 or below) on the PUL distal domain. The integrated use of functional scales and imaging allowed to establish patterns of involvement at each level, and the functional scores that were more frequently associated with diffuse and severe involvement.
本研究旨在评估一组杜氏肌营养不良症患者上肢功能活动和影像学表现的范围。共纳入 31 名年龄在 5 至 29 岁之间的患者（17 名可走动和 14 名不可走动）。所有患者均接受了上肢表现（PUL）测试和肩部、手臂和前臂的肌肉 MRI 评估，以确定在肩部、中段和远端获得的功能评分是否与肌肉 MRI 中每个上肢节段的特定受累模式相关。在肩部水平，背阔肌、前锯肌、冈下肌和肩胛下肌始终受累，即使在肩部功能评分满分的患者中也是如此。在 PUL 肩部功能评分为≤5 的患者中，发现所有肌肉均存在弥漫性和严重受累。在肱二头肌、肱肌和肱三头肌通常一致受累或不受累的手臂水平。在 PUL 中域评分降低的患者中，已经可以检测到一定程度的受累。在中水平功能评分低于 6 的患者中，它们通常严重受累。在远端水平，旋后肌和旋前肌通常受累，其次是肱桡肌，较少见的是屈肌间隔的肌肉。伸肌通常完全不受累。仅在 PUL 远端域评分非常低（8 或以下）的患者中发现弥漫性和严重受累。功能量表和影像学的综合使用可确定每个水平的受累模式，以及与弥漫性和严重受累更频繁相关的功能评分。
