Kanamori M
Institute of Public Health.
Hokkaido Igaku Zasshi. 1988 Nov;63(6):851-8.
Duchenne muscular dystrophy (DMD) is one of the most serious neuromuscular afflictions in childhood. The present analysis describes clinical, genetic and epidemiological features in a total of 675 DMD cases, 666 males and 9 females, reported from 20 national hospitals for muscle diseases in Japan. The results are as follows: 1) Average ages of milestones of progression were: onset at 3.6 +/- 1.7, Gower's sign 5.2 +/- 2.3, inability to walk 9.8 +/- 2.1, death 19.5 +/- 3.6 years old, respectively. The patients died 10.9 +/- 3.3 years after the age of inability to walk. 2) Proportion of selected abnormalities (knee contracture, ankle contracture, kyphoscoliosis) and abnormal findings in electrocardiograms increased with age, whereas pseudohypertrophy of the calves, abnormal findings of electromyograms, and mental retardation remained constant. 83-95% of patients were unable to turn the body in bed over 20 years old. 3) Survival rates at 20 and 27 years old were 63%, and 35%, respectively. The 50% survival rate was observed in 22-23 years of age. 4) The proportion of the sporadic cases was compatible with 1/3, as expected for on X-linked lethal trait assuming complete penetrance. 5) The incidence rate and prevalence rate among males were estimated to be 29.2 x 10(-5) and 6. 7 x 10(-5), respectively. The estimated mutation rates in egg and sperm were 9.2 x -5 and 10.9 x 10(-5)/gamete/generation, respectively.
杜氏肌营养不良症（DMD）是儿童期最严重的神经肌肉疾病之一。本分析描述了日本20家国立肌肉疾病医院报告的总共675例DMD病例（666例男性和9例女性）的临床、遗传和流行病学特征。结果如下：1）疾病进展各关键节点的平均年龄分别为：发病3.6±1.7岁，出现戈谢氏征5.2±2.3岁，无法行走9.8±2.1岁，死亡19.5±3.6岁。患者在无法行走后10.9±3.3年死亡。2）所选异常情况（膝关节挛缩、踝关节挛缩、脊柱侧凸）的比例以及心电图异常结果随年龄增加而上升，而小腿假性肥大、肌电图异常结果和智力迟钝则保持稳定。83% - 95%的患者在20岁以上无法在床上翻身。3）20岁和27岁时的生存率分别为63%和35%。在22 - 23岁时观察到50%的生存率。4）散发病例的比例与1/3相符，这与假设完全外显的X连锁致死性状预期情况一致。5）男性的发病率和患病率估计分别为29.2×10⁻⁵和6.7×10⁻⁵。卵子和精子中的估计突变率分别为9.2×10⁻⁵和10.9×10⁻⁵/配子/代。
