Deep Brain Stimulation in a Patient with Dystonia-Parkinsonism Secondary to a c.609G>A PLA2G6-Associated Neurodegeneration Variant
Objective: To describe a rare likely pathogenic variant of the PLA2G6 protein and its response to deep brain stimulation (DBS). Background: PLA2G6-associated neurodegeneration (PLAN) can…Response to Bilateral GPi DBS in a Patient with DYT30
Objective: To describe the response of dystonia to deep brain stimulation (DBS) of the globus pallidus interna (GPi) in a patient with generalized dystonia due…Telehealth Follow-up for Craniofacial Dystonias Treated with Neurotoxin Injection: Physician Outcomes
Objective: To evaluate the potential benefits of a post-injection telehealth follow-up visit for people with craniofacial dystonia. Background: Craniofacial dystonias, including blepharospasm and oromandibular dystonia,…Patient Perspectives on the Therapeutic Effects of Botulinum Toxin in Cervical Dystonia
Objective: To investigate patient perspectives on the therapeutic effects of botulinum toxin type-A (BoNT-A) in cervical dystonia (CD) using patient s on-line survey. Background: CD…Back Muscle Activity is Associated with Pain with Cervical Dystonia Patients
Objective: To evaluate if dystonia patients without axial phenotype have spontaneous electric activity in back muscles. Background: Patients with cervical dystonia (CD) often complain of…Case Report: Effect of DBS in a Patient with Cerebellar Atrophy
Objective: The aim of this study is to present the result of Deep Brain Stimulation in GPi (Globus pallidus internus) and VA (Ventral anterior nucleus of…Atypical presentation of Pantothenate Kinase-Associated Neurodegeneration in two siblings with a PANK-2 gene mutation: A case report and literature review.
Objective: To describe the cases of two siblings diagnosed with Pantothenate Kinase-Associated Neurodegeneration (PKAN) with mutations in the PANK2 gene. Background: PKAN is part of…Effect of Long-Term Deep Brain Stimulation in BLC11B-related Dystonia
Objective: To evaluate effect of deep brain stimulation (DBS) in patients with BCL11B-related dystonia. Background: BLC11B-related disorder is a rare neurodevelopmental disorder, that has been…Deep brain stimulation for severe dystonia associated with Wilson’s disease: A prospective multicentre meta-analysis of Nof1 trials
Objective: To assess the efficacy of the deep brain stimulation (DBS) on dystonia in Wilson’s disease (WD). Background: The persistence of disabling dystonia despite medical…The Impact of Standardized Recommendations on the Management of Initial and Refractory Pediatric Status Dystonicus
Objective: To develop consensus recommendations for the assessment, triaging and management of pre-status dystonicus, status dystonicus, and refractory status dystonicus in children. Background: Status dystonicus…
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