Department of Neurology, University of Bern, Switzerland.
Clinical Neurogenetics, Hertie-Institute for Clinical Brain Research, and German Center for Neurodegenerative Diseases University of Tübingen, Tübingen, Germany.
Eur J Neurol. 2011 Feb;18(2):207-217. doi: 10.1111/j.1468-1331.2010.03069.x.
These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated.
To collect data about planning, conditions and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers and guideline recommendations reviewed.
The best level of evidence for genetic testing recommendation (B) can be found for the disorders with specific presentations, including familial amyotrophic lateral sclerosis, spinal and bulbar muscular atrophy, Charcot-Marie-Tooth 1A, myotonic dystrophy and Duchenne muscular dystrophy. For a number of less common disorders, a precise description of the phenotype, including the use of immunologic methods in the case of myopathies, is considered as good clinical practice to guide molecular genetic testing.
These guidelines are provisional and the future availability of molecular-genetic epidemiological data about the neurogenetic disorders under discussion in this article will allow improved recommendation with an increased level of evidence.
这些关于运动神经元疾病、神经病变和肌病的分子诊断的 EFNS 指南旨在总结分子遗传学技术的可能性和局限性，并为决定何时进行分子诊断提供诊断标准。
为了收集有关这些疾病的分子诊断规划、条件和性能的数据，在各种电子数据库中进行了文献检索，并对原始论文、荟萃分析、综述论文和指南建议进行了审查。
对于具有特定表现的疾病，如家族性肌萎缩性侧索硬化症、脊髓性肌萎缩症、Charcot-Marie-Tooth 1A、肌强直性营养不良症和杜氏肌营养不良症，可以找到最佳的遗传测试推荐证据级别 (B)。对于一些不太常见的疾病，精确描述表型，包括在肌病的情况下使用免疫方法，被认为是指导分子遗传学测试的良好临床实践。
这些指南是暂定的，未来关于本文讨论的神经遗传疾病的分子遗传流行病学数据的可用性将允许根据增加的证据水平进行更好的推荐。
