面肩肱型肌营养不良的临床特点及疾病严重程度影响因素分析

艳丽 张(太原钢铁（集团）有限公司总医院;山西医科大学第六医院NICU，山西太原)
玉琴 叶(吉林大学第一医院神经内科，吉林长春)

摘要

目的 分析面肩肱型肌营养不良（FSHD）患者的临床特点及疾病严重程度影响因素，利于早期诊断。方法 回顾性分析30例FSHD患者的临床资料，包括常见的首发症状、临床体征、肌酶、肌电图及家系特点；进行疾病严重程度分级，分析起病年龄及病程与疾病严重程度的关系。结果 1.面肩肱型肌营养不良病情进展缓慢，主要首发症状为面肌无力；最常见的体征为翼状肩胛；2.疾病严重程度等级主要集中在2-7级，起病年龄越早，疾病严重程度越重。3.家族内成员临床表现不尽相同，发病年龄逐代提前。结论：FSHD患者临床表现变异较大，最常受累肌肉为面肌和肩胛带肌；起病年龄与疾病严重程度呈负相关性；家族内成员发病符合遗传早现现象。

关键词

肩肱型肌营养不良，临床特点，疾病严重程度，影响因素

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DOI: http://dx.doi.org/10.12345/yzlcyxzz.v5i1.10176