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…Comparison of Dystonia Rating Scales in Children with Primary (Isolated) Dystonia
Objective: To test an age-independent video protocol in children with primary dystonia and to test the validity and utility of the Burke-Fahn-Marsden Dystonia Rating Scale…Complex patterns of dyskinesias in patients chronically treated with enterally administered levodopa/carbidopa gel
Objective: Report cases of biphasic dyskinesia in patients with advanced Parkinson's disease. Background: Diphasic dyskinesia (DD) is a complex pattern of levodopa (LD) induced diskynesia…A New Complex dystonic presentation of a rare gene – CACNA1B and its response to Levodopa
Objective: We report a case of complex dystonia with the rare gene- CACNA1B. Background: CACNA1B gene has previously been reported as the cause of myoclonus-…Characterising Oromandibular Dystonia in Multiple System Atrophy: A video analysis
Objective: To characterise craniofacial manifestations in patients with MSA and explore the relationship between OMD and other related symptoms and treatment. Background: According to the…The impact of physical activity and exercise on people living with dystonia
Objective: The objective was to conduct a survey to elucidate the impact of exercise and physical activity on dystonia and identify barriers to participation. Background:…Domain-specific impact of mood/anxiety disorders on quality of life in idiopathic dystonia
Objective: To evaluate the relationship between mood/anxiety disorder severity and quality of life (QoL) domains in adult-onset idiopathic dystonia (AOID). Background: Depression and anxiety exert…Physiotherapy in cervical dystonia with focus on clinical assessments on ICF
Objective: It is to assess if the results of the common clinical evaluation of patients with cervical dystonia can be summarized in an objective observation…Pre-status and status dystonicus in children and adolescents
Objective: Retrospective analysis of an 8-years' experience in diagnosis, management and follow-up of children experiencing Status dystonicus (SD) and pre-SD. Background: SD is considered the most…
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