Guibaud P, Carrier H N, Plauchu H, Lauras B, Jolivet M J, Robert J M
J Genet Hum. 1981 Mar;29(1):71-84.
The detection of Duchenne muscular dystrophy in the neonate by a determination of the serous activity of CPK allowed the authors to study the muscular, clinical and histopathological features among 14 boys born from 1976 to 1979, showing a raise in the enzymatic activity, confirmed during the first 6 months. 11 boys showed a Duchenne muscular dystrophy, and 3 likely a Becker muscular dystrophy. The authors point out the interest of early findings of hyaline degeneration of the fibers and indicate the variations, from one case to another, of the histopathological evolution in the pre-symptomatic stage. A well examined muscular biopsy is usually conclusive without using an electron microscope, from the age of one year, if serous activity of CPK reaches twenty times the normal rate. If not, waiting for the age of 2 would be advisable, since the initial lesions of the Becker D.M. are not yet clearly defined. When no systematic detection and no familial context, a dosage of the CPK serous activity should be made in the last during the third year, on every boy revealing an unexplained motor retardation. In that purpose, a definition and an application of a motor development score are proposed.
通过测定肌酸磷酸激酶(CPK)的血清活性来检测新生儿杜氏肌营养不良症,这使作者能够研究1976年至1979年间出生的14名男孩的肌肉、临床和组织病理学特征,这些男孩的酶活性升高,在前6个月得到证实。11名男孩患有杜氏肌营养不良症,3名可能患有贝克肌营养不良症。作者指出了纤维透明变性早期发现的意义,并指出了症状前期组织病理学演变在不同病例之间的差异。如果CPK的血清活性达到正常水平的20倍,从1岁起,在不使用电子显微镜的情况下,仔细检查的肌肉活检通常具有决定性意义。如果未达到该水平,建议等到2岁,因为贝克型肌营养不良症的初始病变尚未明确定义。当没有进行系统检测且没有家族背景时,对于每个出现不明原因运动发育迟缓的男孩,最迟应在第三年进行CPK血清活性检测。为此,提出了运动发育评分的定义和应用方法。