Bassam Bassam A
Department of Neurology, University of South Alabama, Mobile, AL.
J Clin Neuromuscul Dis. 2014 Mar;15(3):117-28. doi: 10.1097/CND.0000000000000020.
Inherited neuropathies are among the most prevalent inherited neurologic disorders, and with current advances in molecular biology and genetic testing, the clinical spectrum of phenotype/genotype has been expanding enormously. Genetic testing is nowadays commercially available to several subtypes although many remain because of unknown genetic defect. A stepwise rational approach, which is shown in , facilitates reaching a specific diagnosis and reduces the cost.
遗传性神经病是最常见的遗传性神经疾病之一，随着分子生物学和基因检测技术的不断进步，表型/基因型的临床谱正在大幅扩展。如今，针对几种亚型已有商业化的基因检测，尽管由于遗传缺陷不明，仍有许多亚型无法检测。一种逐步合理的方法（如图所示）有助于做出明确诊断并降低成本。
