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

Abstract:Introduction Disturbances of eye movements are infrequently encountered in motor neuron diseases 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 motor neuron disease 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. As finger extension weakness and downbeat nystagmus are the discriminating clinical features of this motor neuron disease, we propose the name FEWDON-MND syndrome. This article is protected by copyright. All rights reserved.

Publication year:2017

Keywords:Neurosciences & psychopharmacology, Psychiatry & neurology

BOF-keylabel:yes

IOF-keylabel:yes

BOF-publication weight:1

CSS-citation score:1

Authors:International

Authors from:Higher Education

Accessibility:Open

Review status:Peer-reviewed