Tsuda Takeshi
Nemours Cardiac Center, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803, USA.
Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Methods Mol Biol. 2018;1687:19-28. doi: 10.1007/978-1-4939-7374-3_2.
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive weakness and wasting of skeletal muscular and myocardium in boys due to mutation of dystrophin. The structural integrity of each individual skeletal and cardiac myocyte is significantly compromised upon physical stress due to the absence of dystrophin. The progressive destruction of systemic musculature and myocardium causes affected patients to develop multiple organ disabilities, including loss of ambulation, physical immobility, neuromuscular scoliosis, joint contracture, restrictive lung disease, obstructive sleep apnea, and cardiomyopathy. There are some central nervous system-related medical problems, as dystrophin is also expressed in the neuronal tissues. Although principal management is to mainly delay the pathological process, an enhanced understanding of underlying pathological processes has significantly improved quality of life and longevity for DMD patients. Future research in novel molecular approach is warranted to answer unanswered questions.
杜氏肌营养不良症（DMD）是一种X连锁遗传病，由于肌营养不良蛋白突变，导致男孩的骨骼肌和心肌进行性无力和萎缩。由于缺乏肌营养不良蛋白，在身体应激时，每个个体的骨骼肌和心肌细胞的结构完整性都会受到严重损害。全身肌肉组织和心肌的渐进性破坏导致受影响的患者出现多种器官功能障碍，包括行走能力丧失、身体活动受限、神经肌肉性脊柱侧弯、关节挛缩、限制性肺病、阻塞性睡眠呼吸暂停和心肌病。由于肌营养不良蛋白也在神经组织中表达，因此存在一些与中枢神经系统相关的医学问题。尽管主要治疗方法是主要延缓病理过程，但对潜在病理过程的深入了解显著提高了DMD患者的生活质量和寿命。有必要对新的分子方法进行未来研究，以回答未解决的问题。
