Moosa A
S Afr Med J. 1982 Nov 13;62(21):765-7.
Six brothers aged from 15 months to 13 years with confirmed Duchenne's muscular dystrophy are described. The serum creatine kinase levels ranged from 2420 IU/I in the youngest boy to 769 IU/I in the eldest. The diagnosis of Duchenne's muscular dystrophy was only made when the eldest boy was 13 years old, despite the fact that his parents had sought medical advice when he was 5. The importance of early diagnosis, detection of carriers and neonatal screening is discussed in relation to the prevention of Duchenne's muscular dystrophy.
本文描述了六名年龄在15个月至13岁之间确诊为杜氏肌营养不良症的兄弟。血清肌酸激酶水平从最年幼男孩的2420 IU/I到最年长男孩的769 IU/I不等。尽管最年长的男孩在5岁时其父母就已寻求医疗建议，但直到他13岁时才确诊为杜氏肌营养不良症。文中结合杜氏肌营养不良症的预防讨论了早期诊断、携带者检测和新生儿筛查的重要性。
