Suppr超能文献

手指伸展无力和下跳性眼球震颤运动神经元病(FEWDON-MND)。

Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND).

作者信息

Pinto Wladimir B V R, Farias Igor Braga, Badia Bruno de Mattos Lombardi, Libardi Silva Luiz Henrique, Yanagiura Mario Teruo, Chieia Marco Antônio Troccoli, Souza Paulo Victor Sgobbi de, Oliveira Acary Souza Bulle

机构信息

Neurology and Neurosurgery, UNIFESP - Federal University of São Paulo, Sao Paulo, Brazil

Neurology and Neurosurgery, UNIFESP - Federal University of São Paulo, Sao Paulo, Brazil.

出版信息

Pract Neurol. 2019 Oct;19(5):424-426. doi: 10.1136/practneurol-2018-002188. Epub 2019 Apr 24.

Abstract

Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones, and rarely both. Neuro-ophthalmological disturbances such as gaze-evoked downbeat nystagmus are extremely rare in the context of typical and atypical MND. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) syndrome has been recently recognised as a distinct syndromic phenotype of MND, with a characteristic clinical picture. We describe a 63-year-old woman with long-standing lower motor neurone involvement of the upper limbs, who on examination had gaze-evoked downbeat nystagmus. After extensive negative investigation for secondary causes of MND and downbeat nystagmus, we diagnosed FEWDON-MND syndrome.

摘要

非典型运动神经元病(MND)是一组具有挑战性且不断扩大的神经退行性疾病,累及上运动神经元或下运动神经元,很少累及两者。在典型和非典型MND的背景下,诸如凝视诱发的下跳性眼球震颤等神经眼科障碍极为罕见。手指伸展无力和下跳性眼球震颤运动神经元病(FEWDON-MND)综合征最近被认为是MND的一种独特的综合征表型,具有特征性的临床表现。我们描述了一名63岁女性,长期存在上肢下运动神经元受累,检查时发现有凝视诱发的下跳性眼球震颤。在对MND和下跳性眼球震颤的继发原因进行广泛的阴性检查后,我们诊断为FEWDON-MND综合征。

相似文献

1
Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND).
Pract Neurol. 2019 Oct;19(5):424-426. doi: 10.1136/practneurol-2018-002188. Epub 2019 Apr 24.
2
Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?
Muscle Nerve. 2017 Dec;56(6):1164-1168. doi: 10.1002/mus.25669. Epub 2017 May 15.
3
Nystagmus Characteristics in Finger Extension Weakness and Downbeat Nystagmus Motor Neuron Disease (FEWDON-MND).
J Neuroophthalmol. 2023 Dec 1;43(4):e325-e327. doi: 10.1097/WNO.0000000000001494. Epub 2022 Jun 14.
4
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.
Rev Neurol (Paris). 2019 Apr;175(4):221-232. doi: 10.1016/j.neurol.2018.04.016. Epub 2019 Mar 4.
5
Finger Extension Weakness and Downbeat Nystagmus Motor Neuron Disease Syndrome: A Series of Two Cases.
J Neuroophthalmol. 2019 Mar;39(1):115-116. doi: 10.1097/WNO.0000000000000723.
7
Downbeat nystagmus and lower motor neuron disease: 14 years follow-up.
J Neurol. 2018 Mar;265(3):714-716. doi: 10.1007/s00415-018-8775-1. Epub 2018 Feb 2.
8
Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.
Dement Geriatr Cogn Disord. 2018;45(3-4):220-231. doi: 10.1159/000488528. Epub 2018 Jun 8.
9
A case of presumptive primary lateral sclerosis with upper and lower motor neurone pathology.
J Clin Neurosci. 2005 Aug;12(6):706-9. doi: 10.1016/j.jocn.2004.08.032.
10
GPs have key role in managing motor neurone disease.
Practitioner. 2011 Sep;255(1743):19-22, 2.

引用本文的文献

2
Update on Nystagmus and Other Ocular Oscillations.
J Clin Neurol. 2021 Jul;17(3):337-343. doi: 10.3988/jcn.2021.17.3.337.

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