Motor neuronopathy with dropped hands and downbeat nystagmus: A distinctive disorder? A case report

BACKGROUND: Eye movements are clinically normal in most patients with motor neuron disorders until late in the disease course. Rare patients are reported to show slow vertical saccades, impaired smooth pursuit, and gaze-evoked nystagmus. We report clinical and oculomotor findings in three patients with motor neuronopathy and downbeat nystagmus, a classic sign of vestibulocerebellar disease. CASE PRESENTATION: All patients had clinical and electrodiagnostic features of anterior horn cell disease. Involvement of finger and wrist extensors predominated, causing finger and wrist drop. Bulbar or respiratory dysfunction did not occur. All three had clinically evident downbeat nystagmus worse on lateral and downgaze, confirmed on eye movement recordings using the magnetic search coil technique in two patients. Additional oculomotor findings included alternating skew deviation and intermittent horizontal saccadic oscillations, in one patient each. One patient had mild cerebellar atrophy, while the other two had no cerebellar or brainstem abnormality on neuroimaging. The disorder is slowly progressive, with survival up to 30 years from the time of onset. CONCLUSION: The combination of motor neuronopathy, characterized by early and prominent wrist and finger extensor weakness, and downbeat nystagmus with or without other cerebellar eye movement abnormalities may represent a novel motor neuron syndrome

Data from: Variation in non-invasive ventilation use in amyotrophic lateral sclerosis

Objective: We sought to examine prevalence and predictors of non-invasive ventilation (NIV) in a composite cohort of amyotrophic lateral sclerosis (ALS) patients followed in a clinical trials setting (PRO-ACT database). Methods: NIV initiation and status were ascertained from response to question 12 of the revised ALS functional rating scale (ALSFRS-R). Factors affecting NIV use in patients with forced vital capacity (FVC) ≤ 50% of predicted were examined. Predictors of NIV were evaluated by Cox proportional hazard models and generalized linear mixed models. Results: Among 1,784 patients with 8,417 simultaneous ALSFRS-R and FVC% measures, NIV was used by 604 (33.9%). Of 918 encounters when FVC% ≤ 50%, NIV was reported in 482 (52.5%). Independent predictors of NIV initiation were lower FVC% (hazard ratio HR 1.27, 95% CI: 1.17-1.37 for 10% drop), dyspnea (HR 2.62, 95% CI: 1.87-3.69), orthopnea (HR 4.09, 95% CI: 3.02-5.55), lower bulbar and gross motor subscores of ALSFRS-R (HRs 1.09 (95% CI: 1.03-1.14) and 1.13 (95% CI: 1.07-1.20) respectively, per point), and male sex (HR 1.73, 95% CI: 1.31-2.28). Adjusted for other variables, bulbar onset did not significantly influence time to NIV (HR 0.72 (95% CI: 0.47-1.08)). Considerable unexplained variability in NIV use was found. Conclusion: NIV use was lower than expected in this ALS cohort that was likely to be optimally managed. Absence of respiratory symptoms and female sex may be barriers to NIV use. Prospective exploration of factors affecting adoption of NIV may help bridge this gap and improve care in ALS

FEWDON-MND syndrome (finger extension weakness and downbeat nystagmus): A novel motor neuron disorder?

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.status: publishe

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

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.status: publishe