2023
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz‐Manera J, Korb M, Wicklund M, Milone M, Freimer M, Kushlaf H, Villar‐Quiles R, Stojkovic T, Needham M, Palmio J, Lloyd T, Keung B, Mozaffar T, Weihl C, Kimonis V. Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy. Annals Of Clinical And Translational Neurology 2023, 10: 686-695. PMID: 37026610, PMCID: PMC10187720, DOI: 10.1002/acn3.51760.Peer-Reviewed Original ResearchConceptsVCP myopathyMultisystem proteinopathyPercent of patientsConsensus-based guidelinesOnly definitive wayHeterogeneous clinical phenotypesMagnetic resonance imagingMulti-gene panel sequencingAutosomal dominant patternRare genetic disorderPathogenic genetic variantsElectrodiagnostic studiesDisease mimicsLimb-girdle muscular dystrophy phenotypePatient advocacy organizationsVCP variantBone diseaseMuscle biopsyProvisional recommendationsDiagnostic uncertaintyPatient careClinical phenotypeMuscular dystrophy phenotypeResonance imagingMyopathy
2022
Clinical Reasoning: A 73-Year-Old Woman With Episodic Dysarthria and Horizontal Binocular Diplopia
Bower AS, Fisayo A, Baehring JM, Roy B. Clinical Reasoning: A 73-Year-Old Woman With Episodic Dysarthria and Horizontal Binocular Diplopia. Neurology 2022, 98: 767-772. PMID: 35264421, DOI: 10.1212/wnl.0000000000200347.Peer-Reviewed Original ResearchConceptsEMG findingsHorizontal diplopiaHorizontal binocular diplopiaPeripheral nerve hyperexcitabilitySodium channel inhibitorsImpaired abductionTongue fasciculationsTransient dysarthriaElectrodiagnostic studiesTongue deviationSymptomatic reliefClinical presentationNerve hyperexcitabilityNeurologic examinationElectrographic seizuresRight eyeBinocular diplopiaInflammatory conditionsSymptom frequencyOlder womenTransient episodesAdditional episodesMyokymiaSpontaneous depolarizationsChannel inhibitors