OBJECTIVE The number of studies investigating and understanding the disease mechanisms of Duchenne muscular dystrophy (DMD) in human clinical trials have increased substantially over the last decade. Suitable clinical instruments for the measurement of disease progress and drug efficiency are mandatory, but currently not available, especially in the youngest patients. The aim of this study was to detect a reproducible pattern of muscle involvement in early stages potentially preceding evidence of motor regression. MATERIAL AND METHODS A cohort of 25 DMD patients aged 1-6 years at the first presentation were examined at multiple timepoints and compared with age-matched healthy controls. Muscle ultrasound was quantified using computer-analyzed gray scale levels (GSL) and blinded visual rating, using a modified Heckmatt scale. RESULTS Changes in muscle echogenicity in DMD patients occurred very early, clearly preceding motor regression and in some cases, even before the motor plateau phase was reached. Visual rating and GSL identified the earliest changes in the proximal adductor magnus muscle. CONCLUSION Muscle ultrasound can be used as an additional method to assess the disease progression and for decision-making in paucisymptomatic DMD patients. Sonographic changes in the ad-ductor magnus muscle seem to be the first detectable changes with a recognisable pattern.

中文翻译：

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Duchenne 肌营养不良症患者的定性和定量肌肉超声：超声改变从哪里开始？

目的 在人类临床试验中调查和了解杜氏肌营养不良症 (DMD) 疾病机制的研究数量在过去十年中大幅增加。用于测量疾病进展和药物效率的合适的临床仪器是强制性的，但目前尚不可用，尤其是在最年轻的患者中。本研究的目的是在可能出现运动退化迹象之前检测早期阶段肌肉受累的可重复模式。材料和方法 在多个时间点检查了 25 名首次就诊时年龄为 1-6 岁的 DMD 患者，并与年龄匹配的健康对照进行了比较。使用计算机分析灰度等级 (GSL) 和盲法视觉评级，使用改进的 Heckmatt 量表对肌肉超声进行量化。结果 DMD 患者肌肉回声的变化发生得很早，明显在运动退化之前，在某些情况下，甚至在达到运动平台期之前。视觉评级和 GSL 确定了近端大收肌的最早变化。结论 肌肉超声可作为一种额外的方法来评估无症状 DMD 患者的疾病进展和决策。大收肌的超声变化似乎是第一个具有可识别模式的可检测变化。结论 肌肉超声可作为一种额外的方法来评估无症状 DMD 患者的疾病进展和决策。大收肌的超声变化似乎是第一个具有可识别模式的可检测变化。结论 肌肉超声可作为一种额外的方法来评估无症状 DMD 患者的疾病进展和决策。大收肌的超声变化似乎是第一个具有可识别模式的可检测变化。