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…Non-Motor Symptoms In Chinese Patients With Isolated Generalized Dystonia: A Case-Control Study
Objective: To explore non-motor symtoms in Chinese patients with isolated generalized dystonia. Background: Previous studies have indicated that non-motor symptoms are primary problems in focal…Implementation of an online, interactive curriculum in movement disorders at nine neurology residency programs
Objective: Determine knowledge growth and resident satisfaction with an online curriculum in movement disorders across multiple programs. Background: Exposure to movement disorders in residency is…Phenotypic heterogeneity in Chinese dystonia patients with KMT2B variants
Objective: Our study is to summarize genotype-phenotype features with KMT2B-related dystonia in China. Background: KMT2B-related dystonia is a recently discovered childhood onset movement disorder. It…A Rare Disease with Atypical Clinical And Imaging Findings: Anti Lgi-1 Encephalitis
Objective: We present a case that will raise awareness about the disease with atypical clinical and rich imaging findings that has benefited greatly from intensive…
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