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• W2890908482 abstract "Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a complex disease plus patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing.The patient presented with mild facial weakness, humeral poly-hill sign, scapular winging, peroneal weakness, drop foot, pes cavus, and myoclonic epilepsy. Furthermore, electrophysiology revealed severely demyelinated and axonal injury. The muscle and nerve biopsy revealed broadly fiber Type II grouping atrophy and myelinated nerve fibers that significantly decreased with thin myelinated fibers and onion bulbs changes. Generalized sharp and sharp-slow wave complexes on electroencephalography support the diagnosis toward myoclonic epilepsy. In addition, molecular testing demonstrated a co-segregated 20-kb 4q35-EcoRI fragment and permissive allele A, which corresponded with D4Z4 hypomethylation status in the family. Both the patient's mother and brother only presented the typical FSHD but lacked overlapping syndromes. However, no mutations for hereditary peripheral neuropathy and myoclonic epilepsy were discovered by MLPA and WES.The present study described a tripe trouble with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling.一例面肩肱型肌营养不良症合并周围神经病和肌阵挛性癫痫病例摘要背景： 面肩肱型肌营养不良症（FSHD）表现为不对称性肌无力和肌萎缩，主要累及面肌、肩胛带肌和上臂肌群，逐渐向下进展累及躯干肌和下肢肌群，除此还有骨骼肌系统外症状以及“合并综合征”。本研究旨在分析一例面肩肱型肌营养不良症合并周围神经病和肌阵挛性癫痫的病例。 方法： 采用标准的临床评估方法，完善临床辅助检查（生化指标、肌电图、肌肉MRI、肌肉神经活检等）。基于脉冲凝胶电泳的Southern Blot的分子检测；目标区域甲基化测序的方法检测甲基化水平；通过MLPA技术和全外显子测序方法，排除及寻找潜在的基因突变。 结果： 先证者为25岁男性表现为轻度的面肌、肩胛带肌、上臂肌群的萎缩，典型的“弓形足”、“鹤腿”，以及肌阵挛性癫痫。脑电图提示右颞叶区可见显著的尖波和尖慢波支持肌阵挛性癫痫的诊断，电生理提示严重的脱髓鞘和轴突损伤，腓骨肌肌活检病理染色提示肌纤维中-重度萎缩伴Ⅱ型肌灶区同型肌群化，腓肠神经活检提示有髓神经纤维显著减少伴薄髓纤维和典型的“洋葱球”样改变。分子杂交检测到先证者存在一条缺失为20-kb的4q35-EcorⅠ片段和许可的4qA等位序列，进一步分析PAS区域甲基化提示存在显著的低甲基化，支持面肩肱型肌营养不良症的诊断，同样先证者的母亲和弟弟仅仅表现为典型的FSHD患者。然而，进一步MLPA技术和全外显子测序未发现遗传性周围神经病和肌阵挛性癫痫相关的基因突变。 结论： 本研究描述一例FSHD合并遗传性周围神经病和肌阵挛性癫痫的家系，增加临床上非典型疾病病例，并对非典型疾病的诊断提供参考，为临床治疗和基因咨询提供一个可靠的线索。." @default.
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• W2890908482 date "2018-09-20" @default.
• W2890908482 modified "2023-09-26" @default.
• W2890908482 title "A “Triple Trouble” Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy" @default.
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• W2890908482 doi "https://doi.org/10.4103/0366-6999.240797" @default.
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