Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face, shoulder, and upper arms. FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromosome or mutations in SMCHD1, which are responsible of the toxic expression of DUX4 in muscle tissue. Despite the recent application of NGS techniques in the clinical practice, the molecular diagnosis of FSHD is still performed with dated techniques such as Southern blotting. The diagnosis of FSHD requires therefore specific skills on both modern and less modern analytical protocols. Considering that clinical and molecular diagnosis of FSHD is challenging, it is not surprising that only few laboratories offer a comprehensive characterization of FSHD, which requires the education of professionals on traditional techniques even in the era of NGS. In conclusion, the study of FSHD provides an excellent example of using classical and modern molecular technologies which are equally necessary for the analysis of DNA repetitive traits associated with specific disorders.

中文翻译：

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面肩肱型肌营养不良（FSHD）分子诊断：从传统技术到NGS时代。

面肩肱型肌营养不良症（FSHD）是一种遗传性神经肌肉疾病，主要影响面部，肩部和上臂的肌肉。FSHD通常与4q35染色体上的D4Z4大卫星重复序列的收缩或SMCHD1的突变有关，这些突变导致DUX4的毒性表达在肌肉组织中。尽管最近在临床实践中使用了NGS技术，但仍使用诸如Southern blot等过时的技术对FSHD进行分子诊断。因此，FSHD的诊断要求现代和较不现代的分析规程都需要特定的技能。考虑到FSHD的临床和分子诊断具有挑战性，不足为奇的是，只有很少的实验室提供FSHD的全面表征，即使在NGS时代，也需要专业人员对传统技术进行培训。总之，FSHD的研究为使用经典和现代分子技术提供了一个很好的例子，这对于分析与特定疾病相关的DNA重复性状同样必要。