Suppr超能文献

耳鼻喉科医生在肌萎缩侧索硬化症诊断中的作用。

Otolaryngologist's role in the diagnosis of amyotrophic lateral sclerosis.

机构信息

ENT, Hospital Pedro Hispano, Matosinhos, Portugal

Centro Hospitalar Universitário de São João, Porto, Portugal.

出版信息

BMJ Case Rep. 2021 Feb 23;14(2):e234504. doi: 10.1136/bcr-2020-234504.

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive and late-onset fatal neurodegenerative disease characterised by selective death of motor neurons. The aetiology of ALS is still unknown and it is extremely heterogeneous in genetics and clinical presentation, being the respiratory failure the usual cause of death. We describe a case of a 61-year-old male patient referred to the otolaryngology consultation for a 6-month history of progressive solid dysphagia and dysphonia. The patient presented several voice alterations such as a dysarthric speech with hypernasal voice which evoked the hypothesis of a neuromuscular disease. That patient was observed by a neurologist and was submitted to an electromyography that confirmed the ALS diagnosis. This case highlights the key role of otolaryngologists in the diagnosis of ALS, in a way that many patients with a bulbar ALS form are initially studied by an otolaryngologist.

摘要

肌萎缩侧索硬化症(ALS)是一种进行性和迟发性致命的神经退行性疾病,其特征是运动神经元的选择性死亡。ALS 的病因仍不清楚,其在遗传学和临床表现上极具异质性,呼吸衰竭是常见的死亡原因。我们描述了一位 61 岁男性患者的病例,该患者因进行性固体吞咽困难和声音嘶哑 6 个月而被转介至耳鼻喉科会诊。该患者出现了多种声音改变,如构音障碍,鼻音过高,这提示可能患有神经肌肉疾病。该患者由神经科医生观察,并接受了肌电图检查,该检查证实了 ALS 的诊断。该病例突出了耳鼻喉科医生在 ALS 诊断中的关键作用,因为许多延髓 ALS 患者最初由耳鼻喉科医生进行研究。

相似文献

1
Otolaryngologist's role in the diagnosis of amyotrophic lateral sclerosis.
BMJ Case Rep. 2021 Feb 23;14(2):e234504. doi: 10.1136/bcr-2020-234504.
3
A new member of the multidisciplinary ALS team: the otolaryngologist.
Amyotroph Lateral Scler. 2012 Feb;13(2):229-32. doi: 10.3109/17482968.2011.643898.
6
Otolaryngologic presentations of amyotrophic lateralsclerosis.
Otolaryngol Head Neck Surg. 2005 Mar;132(3):500-4. doi: 10.1016/j.otohns.2004.09.092.
7
Gender differences in clinical features at the initial examination of late-onset amyotrophic lateral sclerosis.
J Neurol Sci. 2023 Aug 15;451:120697. doi: 10.1016/j.jns.2023.120697. Epub 2023 Jun 3.
8
[Clinical polymorphism of amyotrophic lateral sclerosis].
Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(8):4-10. doi: 10.17116/jnevro2017117814-10.
9
Evolving markers in amyotrophic lateral sclerosis.
Adv Clin Chem. 2023;114:225-246. doi: 10.1016/bs.acc.2023.02.002. Epub 2023 Mar 14.
10
Bulbar onset amyotrophic lateral sclerosis: A case report.
Ann Med Surg (Lond). 2022 Nov 13;84:104889. doi: 10.1016/j.amsu.2022.104889. eCollection 2022 Dec.

引用本文的文献

1
Is there a decline in speech and swallowing in Amyotrophic Lateral Sclerosis over ten years?
Codas. 2025 Feb 10;37(2):e20240159. doi: 10.1590/2317-1782/e20240159pt. eCollection 2025.
2
Detecting myasthenia gravis as a cause of unclear dysphagia with an endoscopic tensilon test.
Ther Adv Neurol Disord. 2021 Aug 11;14:17562864211035544. doi: 10.1177/17562864211035544. eCollection 2021.

本文引用的文献

1
Analysis of the diagnostic pathway and delay in patients with amyotrophic lateral sclerosis in the Valencian Community.
Neurologia (Engl Ed). 2021 Sep;36(7):504-513. doi: 10.1016/j.nrleng.2018.03.023. Epub 2020 Jun 3.
2
Rural Residence and Diagnostic Delay for Amyotrophic Lateral Sclerosis in Saskatchewan.
Can J Neurol Sci. 2020 Jul;47(4):538-542. doi: 10.1017/cjn.2020.38. Epub 2020 Feb 26.
3
Predictors of diagnostic delay in amyotrophic lateral sclerosis: a cohort study based on administrative and electronic medical records data.
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):176-185. doi: 10.1080/21678421.2018.1550517. Epub 2019 Jan 18.
5
ALS Clinical Trials Review: 20 Years of Failure. Are We Any Closer to Registering a New Treatment?
Front Aging Neurosci. 2017 Mar 22;9:68. doi: 10.3389/fnagi.2017.00068. eCollection 2017.
6
MFN2 couples glutamate excitotoxicity and mitochondrial dysfunction in motor neurons.
J Biol Chem. 2015 Jan 2;290(1):168-82. doi: 10.1074/jbc.M114.617167. Epub 2014 Nov 21.
7
Pseudobulbar affect: prevalence and management.
Ther Clin Risk Manag. 2013;9:483-9. doi: 10.2147/TCRM.S53906. Epub 2013 Nov 29.
8
Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature.
Neuroepidemiology. 2013;41(2):118-30. doi: 10.1159/000351153. Epub 2013 Jul 11.
9
Factors affecting the diagnostic delay in amyotrophic lateral sclerosis.
Clin Neurol Neurosurg. 2012 Jul;114(6):550-4. doi: 10.1016/j.clineuro.2011.11.026. Epub 2011 Dec 14.
10
Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.
Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):285-90. doi: 10.1002/ajmg.b.31158. Epub 2011 Jan 13.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验