Finger Extension Weakness and Downbeat Nystagmus Motor Neuron Disease Syndrome: A Series of Two Cases

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Title Finger Extension Weakness and Downbeat Nystagmus Motor Neuron Disease Syndrome: A Series of Two Cases
Creator Andrew Micieli, Lorne Zinman, Peter Ashby, Arun N. E. Sundaram
Affiliation Department of Neurology (AM), University of Toronto, Toronto, Canada; Department of Neurology (LZ, ANES), Sunnybrook Health Sciences Centre, Toronto, University of Toronto, Canada; Department of Neurology (PA), Toronto Western Hospital, University of Toronto, Toronto, Canada; and Department of Ophthalmology and Vision Sciences (ANES), University of Toronto, Toronto, Canada
Abstract Eye movement abnormalities are rare in motor neuron disease (MND). Ophthalmoparesis is eventually found in patients with amyotrophic lateral sclerosis (ALS) who chose invasive ventilation, but is otherwise typically not observed. There are a few case reports documenting slowing of vertical saccades, gaze-evoked horizontal or rotatory nystagmus, impairment of smooth pursuit, and progressive ophthalmoplegia and eyelid apraxia (1-4). These eye movement abnormalities are typically seen in ALS patients with bulbar onset or frontal lobe impairment. In 2006, Thakore et al (5) reported 3 cases of a novel MND with early and disproportionately severe involvement of finger and wrist extensors, downbeat nystagmus (DBN), relative sparing of bulbar and respiratory musculature, prolonged survival, and lack of family history. In 2016, they described an additional 3 patients with the same clinical phenotype, and designated the disorder as Finger Extension Weakness and Downbeat Nystagmus Motor Neuron Disease Syndrome with an acronym of FEWDON-MND (6). We document 2 patients with FEWDON-MND adding clinical and genetic insights into this novel entity.
OCR Text Show
Publisher Lippincott, Williams & Wilkins
Date 2019-03
Type Text
Source Journal of Neuro-Ophthalmology, March 2019, Volume 39, Issue 1
Language eng
Rights Management © North American Neuro-Ophthalmology Society
Publication Type Journal Article
ARK ark:/87278/s60s5cv3
Setname ehsl_novel_jno
Date Created 2020-09-22
Date Modified 2021-05-06
ID 1595781
Reference URL https://collections.lib.utah.edu/ark:/87278/s60s5cv3
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