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 (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

SUBMITTER: Delva A 

PROVIDER: S-EPMC5656559 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature