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…Endophenotyping adult-onset isolated cervical dystonia: Does period of onset of mood disorder matter?
Objective: We aim to characterize clinical and demographic features pertaining to the time of onset of mood disorder in CD patients. Background: Mood disorder frequently…Neuropsychiatric non-motor manifestations in patients with focal dystonia
Objective: We aimed to evaluate the neuro-psychiatric manifestations in focal dystonia patients. Background: Idiopathic focal dystonia is one of the most common forms of dystonia…Prevalence of Arm Tremor Associated With Dystonia (Arm-TAWD) in patients with Adult-onset Isolated Cervical Dystonia in an Irish population.
Objective: The aim of the study was to determine whether Arm-TWAD affects HrQoL in patients with adult-onset isolated cervical dystonia (AOIFD-CD). Background: TAWD is tremor…PKAN is associated with significant peripheral metabolic alterations in the Dominican Republic cohort
Objective: Applying segmental bioimpedance testing to assess peripheral metabolic alterations in PKAN. Background: PKAN is a rare autosomal recessive disorder with >50 different mutations in…
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