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Facioscapulohumeral Muscular Dystrophy and Poliomyelitis followed by Multiple Sclerosis: A “triple trouble” case report and review of the literature on the association of MS and muscle disorders
Neuromuscular Disorders ( IF 2.8 ) Pub Date : 2021-06-18 , DOI: 10.1016/j.nmd.2021.06.006
Vanessa Ziccone 1 , Carmelo Rodolico 1 , Vincenzo Rizzo 1 , Rossella Tupler 2 , Maria Buccafusca 1 , Antonio Toscano 1
Affiliation  

We describe herein a “triple trouble” case of a patient affected by Facioscapulohumeral muscular dystrophy type 1 (FSHD1), with a previous history of poliomyelitis, who later developed multiple sclerosis (MS). Association of muscle disorders and MS is uncommon; in fact, there are only three case reports of this unusual co-occurrence. As regard as this combination, some hypotheses have been raised about the role of immunological factors. Genetic basis of FSHD1 is a deletion of a critical number of macrosatellite repeats (D4Z4) in the subtelomeric region of chromosome 4q35, resulting in transcriptional de-repression of a gene DUX4. This molecular change could induce an alteration of immune responses, likely conferring susceptibility to both diseases. In this case, poliomyelitis could have delayed the FSHD1 diagnosis and likely acted as a trigger for MS onset. Association of multiple neurological disorders has to be kept in mind to avoid misinterpretation of symptoms and diagnostic delays.



中文翻译:

面肩肱型肌营养不良症和脊髓灰质炎继发多发性硬化症:“三重麻烦”病例报告和有关 MS 与肌肉疾病关联的文献回顾

我们在此描述了一个受 1 型面肩肱型肌营养不良症 (FSHD1) 影响的患者的“三重麻烦”病例,该患者既往有脊髓灰质炎病史,后来发展为多发性硬化症 (MS)。肌肉疾病和 MS 的关联并不常见;事实上,这种不寻常的同时发生的病例报告只有三起。关于这种组合,已经提出了一些关于免疫因素的作用的假设。FSHD1 的遗传基础是染色体 4q35 的亚端粒区域中关键数量的大卫星重复 (D4Z4) 的缺失,导致 DUX4 基因的转录去抑制。这种分子变化可能引起免疫反应的改变,可能导致对这两种疾病的易感性。在这种情况下,脊髓灰质炎可能延迟了 FSHD1 的诊断,并可能成为 MS 发病的诱因。必须牢记多种神经系统疾病的关联,以避免对症状的误解和诊断延误。

更新日期:2021-06-18
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