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眼咽型、远端型和先天性肌营养不良

Author
Basil T Darras, MD
Section Editors
Douglas R Nordli, Jr, MD
Jeremy M Shefner, MD, PhD
Deputy Editor
John F Dashe, MD, PhD
Translators
李洵桦, 主任医师

引言

肌营养不良指一类进行性遗传肌病，由正常肌肉功能所需的若干基因缺陷引起。已确认了部分致病基因。肌无力是主要症状。

本文将讨论眼咽型、远端型和先天性肌营养不良的发病机制、遗传学及临床特征。其他肌营养不良参见其他专题。 (参见“Duchenne(杜氏)和Becker(贝氏)肌营养不良的临床特征及诊断”和“Emery-Dreifuss muscular dystrophy”和“Facioscapulohumeral muscular dystrophy”和“肢带型肌营养不良”和“Myotonic dystrophy: Etiology, clinical features, and diagnosis”)

眼咽型肌营养不良

眼咽型肌营养不良(oculopharyngeal muscular dystrophy, OPMD)是一种以眼肌和咽肌受累为特征的罕见肌病[1,2]。

临床特征 — OPMD典型表现为上睑下垂、构音障碍和吞咽困难。可同时伴有近端和远端肢体无力。患者常常在中年发病，表现为睑提肌非对称性受累。随后发生进行性的眼外肌无力。一般而言，OPMD是一种缓慢进展的肌病，但上睑下垂可挡住视线，且严重的吞咽困难可引起体重减轻，若不治疗可致死。

鉴别诊断 — 根据肌无力分布的不同，OPMD可与面肩肱型肌营养不良(facioscapulohumeral dystrophy, FSHD)相鉴别，OPMD的眼外肌无力更严重。 (参见“Facioscapulohumeral muscular dystrophy”)

              

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Literature review current through: 2017-06 . | This topic last updated: 2017-06-08.
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