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Muscle Nerve. 2017 Dec;56(6):1164-1168. doi: 10.1002/mus.25669. Epub 2017 May 15.

Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?

Author information

1
Department of Neurology, University Hospitals Leuven, Campus Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium.
2
Department of Neurology, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
3
Laboratory for Molecular Neurobiomarker Research, University of Leuven (KU Leuven), Leuven, Belgium.
4
Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.
5
Department of Neurology, Mount Sinai Beth Israel and Icahn School of Medicine at Mount Sinai, New York, USA.
6
Department of Neurology, Wexner Medical Center, Ohio State University, Columbus, Ohio, USA.
7
Department of Neurosciences, University of Leuven (KU Leuven), Leuven, Belgium.
8
Laboratory of Neurobiology, VIB Center for Brain & Disease Research, VIB, Leuven, Belgium.

Abstract

INTRODUCTION:

Disturbances of eye movements are infrequently encountered in motor neuron diseases (MNDs) or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus.

METHODS:

To describe the core clinical features of a syndrome of MND associated with downbeat nystagmus, clinical features were collected from 6 patients.

RESULTS:

All patients had slowly progressive muscle weakness and wasting in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze. Onset was in the second to fourth decade with finger extension weakness, progressing to other distal and sometimes more proximal muscles. Visual complaints were not always present. Electrodiagnostic testing showed signs of regional motor axonal loss in all patients.

DISCUSSION:

The etiology of this syndrome remains elusive. Because finger extension weakness and downbeat nystagmus are the discriminating clinical features of this MND, we propose the name FEWDON-MND syndrome. Muscle Nerve 56: 1164-1168, 2017.

KEYWORDS:

FEWDON-MND; downbeat nystagmus; finger extension; motor neuron disease; muscle wasting

PMID:
28440863
PMCID:
PMC5656559
DOI:
10.1002/mus.25669
[Indexed for MEDLINE]
Free PMC Article

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