单侧声带内收肌麻痹：运动神经元病的一种非典型表现。
Unilateral vocal cord adductor weakness: an atypical manifestation of motor neurone disease.
作者信息
Yogakanthi Saiumaeswar, Wools Christine, Mathers Susan
机构信息
State-Wide Progressive Neurological Diseases Service, Calvary Health Care Bethlehem, Parkdale, Victoria, Australia.
Department of Medicine, Alfred Health, Melbourne, Victoria, Australia.
出版信息
BMJ Neurol Open. 2021 Oct 11;3(2):e000205. doi: 10.1136/bmjno-2021-000205. eCollection 2021.
BACKGROUND
Bulbar involvement is a recognised feature of motor neuron disease/amyotrophic lateral sclerosis (MND/ALS), both as a presenting complaint and as a consequence of advancing disease. Hoarseness and dysphonia have been associated with vocal cord abductor weakness. This is usually bilateral and has also been reported as the presenting clinical feature in a handful of patients with superoxide dismutase 1 (SOD1) gene mutations. Presentation with an isolated, unilateral vocal cord adductor weakness, however, is atypical and rare.
CASE
In this report, we detail the case of a 38-year-old woman with dysphonia and a family history of an SOD1 mutation. Neurological features remained confined to the territory of the left vagus nerve for the next 12 months, before a more rapid rate of disease dissemination and progression.
CONCLUSIONS
This case highlights the importance of recognition of vocal cord palsy as an early manifestation of MND/ALS and the critical need for monitoring to recognise potential disease progression.
背景
延髓受累是运动神经元病/肌萎缩侧索硬化症（MND/ALS）的一个公认特征，既可以作为首发症状，也可以是疾病进展的结果。声音嘶哑和发音障碍与声带外展肌无力有关。这种情况通常是双侧的，也有报道称在少数携带超氧化物歧化酶1（SOD1）基因突变的患者中，它是首发临床特征。然而，以孤立的单侧声带内收肌无力为表现则是非典型且罕见的。
病例
在本报告中，我们详细介绍了一名38岁患有发音障碍且有SOD1基因突变家族史的女性病例。在接下来的12个月里，神经学特征一直局限于左迷走神经支配区域，之后疾病传播和进展速度加快。
结论
该病例凸显了将声带麻痹识别为MND/ALS早期表现的重要性，以及监测以识别潜在疾病进展的迫切需求。
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