Clin Chem Lab Med. 2013 Dec;51(12):2239-45. doi: 10.1515/cclm-2013-0209.
Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA).
We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis.
We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time.
Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.
神经肌肉疾病是一个广义的术语，包括许多疾病，这些疾病要么直接通过内在的肌肉紊乱，要么间接通过神经紊乱，损害肌肉功能。在这里，我们报告了我们小组在咨询和分子产前诊断三种遗传性神经肌肉疾病（即杜氏/贝克型肌营养不良症（DMD/BMD）、肌强直性肌营养不良症 1 型（DM1）、脊髓性肌萎缩症（SMA））方面的经验。
我们使用直接或连锁诊断相结合的技术，对总共 83 例 DMD/BMD、15 例 DM1 和 54 例 SMA 进行了产前诊断。
我们分别鉴定出 16、5 和 10 例受累胎儿。近年来分析程序的改进提高了突变检测率并缩短了分析时间。
由于实验程序的复杂性以及实验室活动和相关咨询所需的高度、特定的专业知识，这些类型的分析应优先在参考分子诊断中心进行。
