RESUMO
PURPOSE OF REVIEW: Myoclonus, a common hyperkinetic movement disorder, can be disabling for patients. It is important to identify and classify myoclonus correctly to ensure appropriate workup and treatment. While the clinical history, examination, and process of classifying myoclonus remain largely unchanged, new causes and triggers for myoclonus are being elucidated, and new genetic causes have been found. Treatment can be challenging, though preliminary data about new options has been promising. RECENT FINDINGS: In this article, we will briefly outline the process of classifying and treating myoclonus. We will then discuss three specific scenarios where myoclonus has been identified: myoclonus associated with SARS-CoV-2 infections, spinal myoclonus following surgery or anesthesia of the spine, and auricular myoclonus. We will also discuss new genetic findings associated with myoclonus-dystonia, and promising results regarding the use of perampanel in treating myoclonus. SUMMARY: The process of describing unique scenarios associated with myoclonus has helped us build our understanding of the causes, genetic background, expected prognosis, and effective treatment of specific types of myoclonus. We hope that further studies on this topic will help tailor treatment.
Assuntos
COVID-19 , Mioclonia , Humanos , Mioclonia/diagnóstico , Mioclonia/terapia , Mioclonia/genética , Mioclonia/fisiopatologia , COVID-19/complicaçõesRESUMO
Introduction: Given the unique natural history of GBA-related Parkinson's disease (GBA-PD) and the potential for novel treatments in this population, genetic testing prioritization for the identification of GBA-PD patients is crucial for prognostication, individualizing treatment, and stratification for clinical trials. Assessing the predictive value of certain clinical traits for the GBA-variant carrier status will help target genetic testing in clinical settings where cost and access limit its availability. Methods: In-depth clinical characterization through standardized rating scales for motor and non-motor symptoms and self-reported binomial information of a cohort of subjects with PD (n = 100) from our center and from the larger cohort of the Parkinson's Progression Marker Initiative (PPMI) was utilized to evaluate the predictive values of clinical traits for GBA variant carrier status. The model was cross-validated across the two cohorts. Results: Leveraging non-motor symptoms of PD, we established successful discrimination of GBA variants in the PPMI cohort and study cohort (AUC 0.897 and 0.738, respectively). The PPMI cohort model successfully generalized to the study cohort data using both MDS-UPDRS scores and binomial data (AUC 0.740 and 0.734, respectively) while the study cohort model did not. Conclusions: We assessed the predictive value of non-motor symptoms of PD for identifying GBA carrier status in the general PD population. These data can be used to determine a simple, clinically oriented model using either the MDS-UPDRS or subjective symptom reporting from patients. Our results can inform patient counseling about the expected carrier risk and test prioritization for the expected identification of GBA variants.
RESUMO
Background: Musician's focal task-specific dystonia is a complex disorder of fine motor control, with incomplete understanding of its etiology. There have been relatively few trials of botulinum toxin in upper limb task-specific dystonia, and prior studies have yielded variable results, leading to skepticism regarding the utility of this approach in elite performers. Methods: We conducted a double-blind, placebo-controlled, randomized, cross-over study of incobotulinum toxin-A in 21 professional musicians with focal upper extremity task-specific dystonia affecting performance on their instrument, using a novel paradigm of initial injections followed by booster injections at two- and four-week intervals. The primary outcome measure was the change in blinded dystonia rating of the active arm by two expert raters using a Clinical Global Impression numeric scale at week 8 compared to enrollment. Findings: 19 men and 2 women with musicians' dystonia were enrolled over a six-year period. Nineteen patients completed the study. Analysis of the primary outcome measure in comparison to baseline revealed a change in dystonia severity of P = 0.04 and an improvement in overall musical performance of P = 0.027. No clinically significant weakness was observed, and neutralizing antibodies to toxin were not found. Interpretation: Despite its small sample size, our study demonstrated a statistically significant benefit of incobotulinum toxin-A injections as a treatment for musicians' task-specific dystonia. Tailoring the use of toxin with booster injections allowed refinement of dosing strategy and outcomes, with benefits that were meaningful to patients clearly visible on videotaped evaluations. In addition to its application to musicians' dystonia, this approach may have relevance to optimize application of botulinum toxin in other forms of focal dystonia such as blepharospasm, cervical dystonia, writer's cramp, and spasmodic dysphonia.
Assuntos
Toxinas Botulínicas Tipo A , Estudos Cross-Over , Distúrbios Distônicos , Música , Fármacos Neuromusculares , Humanos , Método Duplo-Cego , Masculino , Feminino , Toxinas Botulínicas Tipo A/administração & dosagem , Distúrbios Distônicos/tratamento farmacológico , Distúrbios Distônicos/fisiopatologia , Adulto , Fármacos Neuromusculares/administração & dosagem , Fármacos Neuromusculares/farmacologia , Pessoa de Meia-Idade , Resultado do Tratamento , Doenças Profissionais/tratamento farmacológicoRESUMO
Although patients with movement disordersnearly always present as outpatients, there are certain situationsin which patients may present to the emergency room or in thehospital with emergencies. In Movement Disorder Emergencies:Diagnosis and Treatment, prominent neurologists and movementdisorder experts from around the world logically and systematicallyreview the major movement disorder emergencies, instructing thereader on how optimally to recognize and manage these problems. Theauthors comprehensively cover a broad range of disorders, includingacute dystonic reactions, neuroleptic malignant syndrome, startlesyndromes, and tic emergencies, and stress the importance ofcertain obvious diagnoses such as Wilson's disease, dopa-responsivedystonia, and Whipple's disease, in which delayed diagnosis in lessemergent situations can lead to slowly evolving and oftenirreversible neurological damage with tragic consequences. Thechapters are practical in emphasizing the keys to diagnosis andtreatment, but do not skimp on the underlying science, therebyproviding in one reference source what is critical to know. Patientvignettes at the beginning of each chapter focus the reader'sattention and highlight the urgency of the problem. Practical andpatient-based, Movement Disorder Emergencies: Diagnosis andTreatment offers neurologists and emergency medical personnel anindispensable guide to successfully diagnosing and treating theseimportant but previously unexplored areas of neurologicaldisorders.
RESUMO
Updated and expanded with nine additionalchapters, Movement Disorder Emergencies: Diagnosis and Treatment,Second Edition is an indispensable resource for generalneurologists, specialists, fellows, and residents eager to improvetheir approach toward the patient with a movement disorderemergency. In this comprehensive second edition, prominentneurologists from around the world logically and systematicallyreview the major movement disorder emergencies, instructing thereader on how optimally to recognize and manage these problems. Theauthors cover a broad range of disorders, including acute dystonicreactions, neuroleptic malignant syndrome, startle syndromes, ticemergencies, and others; and they stress the importance of certainobvious diagnoses such as Wilson's disease, dopa-responsivedystonia, and Whipple's disease, in which delayed diagnosis in lessemergent situations can lead to slowly evolving and oftenirreversible neurologic damage with tragic consequences. Inaddition, nine topics not covered in the first edition areprovided, including genetic counseling and testing crises, suiciderisk, psychogenic movement disorders, and others. Patient vignettesat the beginning of each chapter focus the reader's attention andhighlight the urgency of the problem. Since astute clinicaldiagnosis of many movement disorders is still largely dependent onvisual pattern recognition in the clinic, an accompanying onlinecollection of physician-patient vignettes illustrates virtually allof the movement disorders described in the text. Importantly, theauthors also discuss a range of new treatment paradigms that haveemerged since publication of the first edition, especially deepbrain stimulation. Authoritative and a leading text in the field,Movement Disorder Emergencies: Diagnosis and Treatment, SecondEdition is an established, practical reference that continues toachieve excellence in the field of diagnosis and management ofmovement disorder emergencies.