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…Adherence with Digital Outcome Measures in Focal Dystonias
Objective: We assessed patient adherence with an app-based patient-centered outcome (PCO) tool for focal dystonia in a prospective study to determine the impact of dystonia…Challenges in Airway Management after Deep Brain Stimulation in DYT1 Dystonia: a Case Report
Objective: To highlight the challenges in upper airway management following deep brain stimulation (DBS) in patients with severe, medically refractory DYT1 dystonia and to emphasize…National Survey of DYT/PARK-GCH1 (Segawa Disease) in Japan
Objective: To clarify clinical features of Segawa Disease (SD) in Japan. Background: Prof Segawa discovered SD 50 years ago, and GCH-1 gene mutations were linked…
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