Recent Clinical variation of Segawa Disease in Japan
Objective: To analyze clinical phenotype of recent variation of Segawa disease（GCHⅠ deficiency, DYT5a）in Japan. Background: Segawa Disease（SD）is major dystonia in children found by Prof.Masaya Segawa…DystoniaNet: Neural Biomarker-Based Platform for Dystonia Diagnosis using Deep Learning
Objective: Development and validation of a deep learning algorithmic platform for the identification of a microstructural biomarker for objective, accurate, and rapid diagnosis of dystonia.…Frequency and phenotypic spectrum of ANO3 dystonia: A single-center cohort study
Objective: To further clarify the spectrum and frequency of ANO3 rare variants in Chinese populations with primary dystonia. Background: Dystonia is a movement disorder with…Catatonia, Parkinsonism and Dystonia in a patient with Osmotic Demyelination Syndrome
Objective: We present a case of Osmotic Demyelination Syndrome (ODS) in a patient who underwent liver transplant and subsequently developed multiple movement disorders. Background: ODS…A Novel Variant of TUBB4A Dystonia (DYT4): A Case Report
Objective: To describe the clinical presentation of a case of TUBB4A dystonia with a novel genetic variant Background: A missense variant at Arg2Gly in the…Management of Dystonia in Europe from Patients’ Experience
Objective: To investigate management of dystonia in Europe from patients' experience obtained from on-line survey. Background: We have reported a lack of specific training in…How Commonly Does Parkinson’s Disease Present with Dystonia?
Objective: To review dystonia as the presenting feature of Parkinson’s disease (PD). Background: Dystonia in PD is most commonly described as a levodopa complication. It…Task-specific lower limb dystonia only during walking stairs
Objective: To understand of the spectrum of focal task-specific lower limb dystonia only during walking stairs Background: Focal task-specific dystonia in the lower limb or…Objective evaluation criteria for diagnosis of spasmodic dysphonia
Objective: Development of objective criteria for standardized diagnosis of spasmodic dysphonia (SD) and distinction between its adductor and abductor phenotypes. Background: SD is a task-specific…Genetic and clinical investigation of young onset dystonia in Korea: What can we learn?
Objective: In this study, we performed whole exome sequencing (WES) in Korean patients with young-onset dystonia, and investigated important factors associated with WES in dystonia.…
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