Epilepsia Open, EarlyView.Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina +21 more
wiley +1 more source
Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience
DystoniaIntroductionDYT-11 is a form of myoclonus dystonia (MD) characterized by involuntary muscle jerks and abnormal postures attributable to a variant in the epsilon sarcoglycan (SGCE) gene.
Matthew Aaron Remz +8 more
doaj +1 more source
Pitch Strength & Percent Vocal Creak to Assess Treatment Response in Adductor Laryngeal Dystonia
The Laryngoscope, EarlyView.Pitch Strength (PS) and Percent Vocal Creak (%VC) were measured before and after botulinum neurotoxin treatment in patients with adductor laryngeal dystonia (AdLD). While PS and %VC correlated with changes in disruption frequency and perceptual severity, they did not demonstrate robust group‐level treatment sensitivity.
Jesse D. Hoffmeister +5 more
wiley +1 more source
A narrative review: clinical trials in therapeutic interventions for dystonia (2020 - 2025)
DystoniaDystonia is a disabling movement disorder affecting millions of people. Approach to managing this disorder in clinical practice include oral and intrathecal medication therapy, botulinum toxin injections, deep brain stimulation, rehabilitative regimens ...
Ann Ly +9 more
doaj +1 more source
Phenotypic comparison between combined dystonia-parkinsonism and idiopathic adult-onset dystonia
The clinical characteristics of dystonia occurring in association with sporadic neurodegenerative parkinsonism have not been systematically explored or compared with those of idiopathic adult-onset dystonia.
Velucci, Vittorio +25 more
core +1 more source
Supraglottic Botulinum Toxin Injection Improves Symptoms of Laryngeal Sensory Dysfunction
The Laryngoscope, EarlyView.In this retrospective cohort of 80 patients with refractory laryngeal sensory symptoms, supraglottic botulinum toxin type A significantly improved Laryngeal Hypersensitivity Questionnaire, Reflux Symptom Index, and Cough Severity Index scores at a mean of 5.2 weeks, while Voice Handicap Index‐10 scores remained unchanged.
Daniel Novakovic +3 more
wiley +1 more source
Editorial: Models, mechanisms, and maturation in developmental dystonia
Dystonia, 2023 Jason S. Gill +10 more
doaj +1 more source
Unraveling dystonia circuitry in rodent models using novel neuromodulation techniques
DystoniaDystonia is a network disorder presumed to result from abnormalities in multiple brain regions and in multiple cell populations. The specific pathomechanisms affecting the motor circuits in dystonia are, however, still largely unclear.
Lisa Rauschenberger, Chi Wang Ip
doaj +1 more source
Racial and Ethnic Disparities in Facial Paralysis: Diagnosis, Comorbidities, and Chemodenervation
The Laryngoscope, EarlyView.ABSTRACT Objectives Facial paralysis (FP) is associated with significant functional and psychosocial morbidity, yet potential racial and ethnic disparities in its diagnosis, associated comorbidities, and treatment patterns remain poorly characterized.
Amy Wang +5 more
wiley +1 more source
Cerebellar contributions to dystonia: unraveling the role of Purkinje cells and cerebellar nuclei
DystoniaDystonias are a group of neurodegenerative disorders that result in altered physiology associated with motor movements. Both the basal ganglia and the cerebellum, brain regions involved in motor learning, sensory perception integration, and reward, have ...
Nichelle N. Jackson +3 more
doaj +1 more source