Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA; Department of Neurological Surgery, University of California San Francisco School of Medicine, San Francisco, California, USA.
Muscle Nerve. 2013 Sep;48(3):336-42. doi: 10.1002/mus.23793. Epub 2013 Jul 27.
Duchenne muscular dystrophy (DMD) is caused by a genetic defect resulting in absent dystrophin, yet children are able to walk when small and young but lose this ability as they grow. The mdx mouse has absent dystrophin yet does not exhibit significant disability.
Allometric modeling of linearly increasing load per muscle fiber and stress on the sarcolemma with growth and exponential decline associated with loss of muscle fibers correlated with case studies and animal models of DMD.
Smaller species or breeds are predictably less affected than large as follows: mdx mice < small golden retriever muscular dystrophy (GRMD) dogs < large GRMD dogs < humans. Case reports of combined growth hormone and dystrophin deficiency show a relatively benign course of disease.
Future therapeutic trials in DMD might include specific growth inhibitors in combination with standard of care treatments to delay the clinical onset and reduce the severity of disease and disability.
杜氏肌营养不良症（DMD）是由基因突变导致肌营养不良蛋白缺失引起的，然而患儿在年幼时能够行走，但随着生长，他们会逐渐失去行走能力。mdx 小鼠缺乏肌营养不良蛋白，但并未表现出明显的残疾。
根据线性增加的肌纤维负荷和细胞膜上的张力与肌肉纤维的生长和指数性减少相关联，对所有生物体进行比例建模，并与 DMD 的病例研究和动物模型进行关联。
与大型动物相比，较小的物种或品种受影响的程度可预测性更小，具体如下：mdx 小鼠<小型金毛猎犬肌营养不良症（GRMD）犬<大型 GRMD 犬<人类。生长激素和肌营养不良蛋白缺乏症的联合病例报告显示出相对良性的疾病进程。
未来在 DMD 中的治疗试验可能包括特定的生长抑制剂与标准治疗方法相结合，以延迟疾病的临床发作并减轻疾病和残疾的严重程度。
