Schapira G, Laugier P, Rochette J, Berger G, Katz P, Perrin J
C R Acad Sci III. 1986;303(10):377-80.
Duchenne muscular dystrophy (DMD) is a disease inherited in an X-linked recessive manner. Nothing is yet known about the gene defect involved. The problem of DMD carrier detection is very important and now without satisfactory solution. Presently the best method, for this detection, is the determination of the serum creatine-kinase (CK) level. However about 30% of DMD children's mothers have normal CK levels. In this study we associated CK determination and a new echographic method. This physical investigation is based on the muscle attenuation measurements through the evolution of the running spectral moments. The parameter expressed is the slope of the ultrasound attenuation signal (in decibels by centimetre and by megahertz; dB . cm-1 . MHz-1). We measured this parameter in vivo on the vastus medialis. The use of the chemical technique and of the physical one improves largely the detection of obligate carriers of Duchenne muscular dystrophy than when one of these methods is employed alone. One such combination recognizes 17 out of the 19 obligate carriers in our series. The difference of the results obtained by these two unrelated methods cannot be yet interpreted, but can reflect genetic heterogeneity in DMD and the inactivation of the X chromosomes.
杜氏肌营养不良症（DMD）是一种以X连锁隐性方式遗传的疾病。目前对所涉及的基因缺陷尚不清楚。DMD携带者检测问题非常重要，目前尚无令人满意的解决方案。目前，用于这种检测的最佳方法是测定血清肌酸激酶（CK）水平。然而，约30%的DMD患儿母亲的CK水平正常。在本研究中，我们将CK测定与一种新的超声检查方法相结合。这种体格检查基于通过运行频谱矩的演变进行的肌肉衰减测量。所表达的参数是超声衰减信号的斜率（以分贝每厘米每兆赫兹为单位；dB·cm-1·MHz-1）。我们在体内测量了股内侧肌的这一参数。与单独使用其中一种方法相比，化学技术和物理技术的联合使用在很大程度上提高了杜氏肌营养不良症 obligate 携带者的检测率。在我们的系列研究中，这样的一种联合方法识别出了19名 obligate 携带者中的17名。这两种不相关方法所获得结果的差异尚无法解释，但可能反映了DMD中的基因异质性以及X染色体的失活。
