Clinical and genetic features of patients with facial-sparing facioscapulohumeral muscular dystrophy
Clinical and genetic features of patients with facial-sparing facioscapulohumeral muscular dystrophy
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保留面部面肩肱型肌营养不良症患者的临床和遗传特征
DOI：
10.1111/ene.13509
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发表时间：
2018-02-01
影响因子：
5.1
通讯作者：
Wang, Z. -Q.
中科院分区：
文献类型：
--
作者：
He, J. -J.;Lin, X. -D.;Wang, Z. -Q.
背景和目的面肩肱型肌营养不良症（FSHD）是面肩肱型肌营养不良症（FSHD）中最常见的非典型形式，临床上定义为神经系统检查无明显的面部肌肉无力。SHD的临床资料和遗传特征是limited.MethodsA队列的21例中国SHD患者证实了基于脉冲场凝胶电泳的分子遗传学分析。结果患者有FSHD相关的EcoRI片段，4 qA单倍型范围为18 - 33 kb（平均26.3 - 4.6 kb）。平均发病年龄为25.52 ± 8.3岁。超过一半的患者有肩胛翼和不对称无力符合FSHD，没有面部症状，在他们的访问。面部肌电图基本正常或轻度肌源性损害，肌肉病理学及血清肌酸激酶也基本正常。一个冲突，意外发现代际DR 1甲基化analysis.ConclusionFacial-Sparing肩胛肌病的特点是轻微的肌病症状和慢性进展的弱点。通过FSHD大小的片段检测和4 qA/B变异测定，应准确确认诊断。尽管下一代SHD有更严重的肌肉症状，但D4 Z4内的局部低甲基化未被发现作为临床异质性的修饰剂。
Background and purposeFacial-sparing scapular myopathy (SHD) is the most common atypical form of facioscapulohumeral muscular dystrophy (FSHD), clinically defined as without apparent facial muscle weakness on neurological examination. The clinical profiles and genetic features of SHD are limited.MethodsA cohort of 21 Chinese patients with SHD were confirmed by molecular genetic analysis based on pulsed-field gel electrophoresis. The clinical assessments and methylation analysis were noted.ResultsThe patients had FSHD-related EcoRI fragments with 4qA haplotype ranging from 18 kb to 33 kb (mean 26.3 4.6 kb). The mean onset age was 25.52 +/- 8.3 years. Over half of the patients had scapular winging and asymmetry weakness consistent with FSHD, without facial symptoms during their visit. Their facial electromyogram results were almost normal or mild myogenic damage, as well as the myopathology and serum creatine kinase. A conflict was unexpectedly found in intergenerational DR1 methylation analysis.ConclusionFacial-sparing scapular myopathy is characterized as mild myopathic symptoms and chronic progression of weakness. The diagnosis should be accurately confirmed through FSHD-sized fragment detection and 4qA/B variant determination. Although the next generations of SHD had more severe muscular symptoms, local hypomethylation within D4Z4 was not found as a modifier for clinical heterogeneity.