Pathological studies on rodent models and patients with Pompe disease have demonstrated the accumulation of glycogen in spinal motor neurons; however, this finding has rarely been evaluated clinically in patients with Pompe disease. In this study, we analyzed seven patients (age, 7-11 years) with Pompe disease who received long-term enzyme replacement therapy. In addition to traditional myopathy-related clinical and electrophysiological features, these patients often developed bilateral foot drop, distal predominant weakness of four limbs, and hypo- or areflexia with preserved sensory function. Electrophysiological studies showed not only reduced amplitudes of compound muscle action potential, but also absent or impersistent F waves and mixed small and large/giant polyphasic motor unit action potentials with normal sensory study. Muscle biopsy usually showed the existence of angular fingers, fiber type grouping or group atrophy. Taken together, these features support the co-existence of motor neuronopathy additionally to myopathy.

中文翻译：

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伴有运动神经元病的庞贝病的临床特征

对啮齿动物模型和庞贝病患者的病理学研究表明，脊髓运动神经元中存在糖原积累；然而，这一发现很少在庞贝病患者中进行临床评估。在这项研究中，我们分析了 7 名接受长期酶替代疗法的庞贝病患者（年龄 7-11 岁）。除了传统的肌病相关的临床和电生理特征外，这些患者还经常出现双侧足下垂、四肢远端显着无力以及感觉功能保留的反射减弱或反射消失。电生理研究表明，不仅复合肌肉动作电位的幅度降低，而且 F 波不存在或持续存在，以及混合的小和大/巨型多相运动单位动作电位与正常的感觉研究。肌肉活检通常显示存在角指、纤维型群或群萎缩。综上所述，这些特征支持运动神经元病与肌病的共存。