National Center of Neurology and Psychiatry, Tokyo, Japan.
Proc Jpn Acad Ser B Phys Biol Sci. 2010;86(7):748-56. doi: 10.2183/pjab.86.748.
Duchenne muscular dystrophy (DMD) is an X-linked, progressive muscle-wasting disease caused by mutations in the DMD gene. Since the disease was described by physicians in the 19th century, information about the subject has been accumulated. One author (Sugita) was one of the coworkers who first reported that the serum creatine kinase (CK) level is elevated in progressive muscular dystrophy patients. Even 50 years after that first report, an elevated serum CK level is still the most useful marker in the diagnosis of DMD, a sensitive index of the state of skeletal muscle, and useful to evaluate therapeutic effects. In the latter half of this article, we describe recent progress in the therapy of DMD, with an emphasis on gene therapies, particularly exon skipping.
杜氏肌营养不良症（DMD）是一种 X 连锁的、进行性肌肉萎缩疾病，由 DMD 基因突变引起。自 19 世纪医生描述该疾病以来，人们已经积累了相关信息。其中一位作者（杉田）是最早报告肌营养不良症患者血清肌酸激酶（CK）水平升高的同事之一。即使在首次报告后的 50 年，血清 CK 水平升高仍然是 DMD 诊断中最有用的标志物，它是骨骼肌状态的敏感指标，有助于评估治疗效果。在本文的后半部分，我们将重点介绍基因治疗，特别是外显子跳跃，描述 DMD 治疗的最新进展。
