The phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP) is broader than previously defined
Objective: To update the phenotype of RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene,…Comorbidity and retirement in primary focal cervical dystonia
Objective: The objective of this study was to investigate comorbidities in cervical dystonia (CD) and effect of CD to retirement rate in Finland. Background: Cervical…Prayer Dancing Dystonia: A Novel Form of Non-Occupational Task Specific Focal Dystonia
Objective: To examine and characterize an observed movement disorder in our clinic and consider it in the context of the currently-established types of Task Specific…“Stiff Young Woman”: Case report
Objective: To describe a rare presentation of a young-onset Stiff Person Syndrome patient. Background: The Stiff-Person syndrome (SPS) is classically characterized by progressive stiffness with…Frequency and Phenoptypic Spectrum of KMT2B Mutations in Childhood-Onset Dystonia: Results from a Single-Centre Cohort Study
Objective: To assess the frequency of KMT2B mutations in a cohort of patients with childhood-onset dystonia and characterize the related molecular and phenotypic spectrum. Background:…ADCY5-related disorder associated with status dystonicus
Objective: To report a case of ADCY5-related disorder case associated with status dystonicus and DBS efficacy in this patient. Background: Early-onset hyperkinesias may occur in…Temporal Discrimination Threshold is Associated with Multiple Regions of Resting-State Brain Activity in Musician’s Dystonia
Objective: To examine temporal discrimination threshold (TDT) score across different but related forms of task-specific focal dystonia and to assess the correlation between TDT alterations…Dystonia, Tremor, and Dystonic Tremor
Objective: To understand the relationship between dystonia, tremor, and dystonic tremor. Background: Dystonia and tremor are distinct but frequently co-occurring movement disorders. The particularly ambiguous…Good response to bilateral GPI-DBS after 2 years in generalized dystonia due to a mutation in the KMT2B gene (DYT28)
Objective: To report a case of generalized primary dystonia due to a mutation in the histone methyltransferase gene (KMT2B) treated with globus pallidus interna deep…Unique task specific oromandibular dystonia associated with Quran recitation
Objective: To describe clinical features of oromandibular dystonia induced by Quran recitation. Background: Task specific focal dystonias occurring exclusively during highly skilled motor tasks have…
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