Lee Choon Sung, Kang Suk Jung, Hwang Chang Ju, Lee Sung-Woo, Ahn Young-Joon, Kim Yung-Tae, Lee Dong-Ho, Lee Mi Young
Department of Orthopaedic Surgery, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea.
J Pediatr Orthop B. 2009 Nov;18(6):325-9. doi: 10.1097/BPB.0b013e32832efc21.
Although facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited myopathy, cases of infantile or early-childhood onset have rarely been reported. The purpose of this study was to describe a case of early-onset FSHD with lumbar hyperlordosis, which shows the significance of the dynamic component of sagittal spinal imbalance. An 11-year-old girl presented with progressive gait disturbance and lumbar hyperlordosis. The motor power of her pelvic extensor muscles was grade 3. Pelvic tilt and hip flexion were markedly increased as determined by gait analysis. The most important factor in the development of hyperlordosis is the weakness of the pelvic extensor muscles, and the results of gait analysis exquisitely explain the pathophysiology. The patient stands with her spine hyperextended to maintain upright posture by a compensatory mechanism of relatively strong back extensor muscles. Corrective surgery for lumbar hyperlordosis was not considered because it could have eliminated the compensatory lumbar hyperextension, thus making the spine of the patient stoop forward through her hip joint during walking by the weakness of her pelvic extensor muscles. This FSHD case is an impressive example of a patient showing the concept that weak pelvic extensor muscles cannot keep the spine upright and balanced.
尽管面肩肱型肌营养不良症（FSHD）是第三常见的遗传性肌病，但婴儿期或儿童早期发病的病例鲜有报道。本研究的目的是描述一例伴有腰椎前凸的早发性FSHD病例，该病例显示了矢状面脊柱失衡动态成分的重要性。一名11岁女孩出现进行性步态障碍和腰椎前凸。其骨盆伸肌肌力为3级。通过步态分析确定，骨盆倾斜和髋关节屈曲明显增加。腰椎前凸发展的最重要因素是骨盆伸肌肌力减弱，步态分析结果精确地解释了其病理生理学。患者通过相对较强的背部伸肌的代偿机制，脊柱过度伸展站立以维持直立姿势。未考虑对腰椎前凸进行矫正手术，因为这可能会消除代偿性腰椎过度伸展，从而使患者在行走时因骨盆伸肌肌力减弱而通过髋关节向前弯腰。该FSHD病例是一个令人印象深刻的例子，展示了骨盆伸肌肌力减弱无法保持脊柱直立和平衡这一概念。
