Faculty Bibliography

OPINION STATEMENT: Serotonin syndrome (SS) and neuroleptic malignant syndrome (NMS) can present similarly and range in severity from mild to life-threatening. Although they are easily misdiagnosed, each is distinct clinically and pathophysiologically. It is important to distinguish between the two, as therapeutic options differ. An accurate and thorough medication history plus knowledge of the various clinical presentations of both syndromes are the first steps in management. After this, removing the offending agents and aggressive supportive care are crucial. This includes controlling muscle rigidity and hyperthermia, providing cardiovascular support, and alleviating agitation. In severe cases, paralysis, sedation, and intubation are required. Agents to reverse either surplus serotonergic activity or dopamine blockage can be useful. However, the diagnosis must be clear, as use of these agents in the incorrect syndrome can worsen symptoms. In pharmacologically refractory cases of NMS, electroconvulsive therapy should be pursued.

OBJECTIVES/HYPOTHESIS: Our aims are to 1) illustrate the complexity and phenomenological richness of the embouchure; 2) delineate the main clinical features of non-dystonic embouchure problems (NED) versus embouchure dystonia (ED); and 3) provide a practical framework for physicians who may encounter a patient with embouchure dysfunction. STUDY DESIGN: We performed retrospective chart and video review and report 139 instrumentalists with embouchure dysfunction evaluated over a 15-year period. RESULTS: Included in this group are 109 ED patients (20 newly reported and 89 previously published) and 30 NED patients. Non-dystonic embouchure problems included the overuse syndrome, infraorbital neuropathy, and orbicularis oris tears, among others. CONCLUSIONS: Based on this experience, the largest series presented to date, we propose a practical guide to help evaluate patients with embouchure dysfunction in the office. LEVEL OF EVIDENCE: 4. Laryngoscope, 126:1327-1333, 2016.

BACKGROUND: Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown. METHOD: Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25). Using functional MRI, we explored the influence of the identified mutation on brain activation during symptomatic task production. RESULTS: We identified 1 patient with laryngeal dystonia who was a GNAL mutation carrier. When compared with 26 patients without known mutations, the GNAL carrier had increased activity in the fronto-parietal cortex and decreased activity in the cerebellum. CONCLUSIONS: Our data show that GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. Exploratory evidence of distinct neural abnormalities in the GNAL carrier may suggest the presence of divergent pathophysiological cascades underlying this disorder. (c) 2016 International Parkinson and Movement Disorder Society.