Health-related quality of life in cervical dystonia; the hidden and unaddressed effect of anxiety
Objective: The aim of this study was to assess health-related quality of life in patients with cervical dystonia and assess factors considered to contribute to…Biallelic ZNF142-null mutations in patients with early-onset generalized dystonia
Objective: To identify a novel genetic factor contributing to the phenotypic expression of early-onset generalized dystonia. Background: To date, only about 20-30% of cases with…Phenotypic variability and extreme age of presentation of GCH1 gene mutation in dopa-responsive dystonia
Objective: To highlight the wide phenotypical variability among GCH1 gene mutation carriers and the importance of molecular work-up and establishing genotype-phenotype correlations in GCH1 related…Clinical and genetic characteristics of a new mutation causing Segawa´s disease in a Spanish kindred
Objective: To describe the clinical phenotype and genetic characteristics of a novel mutation causing Segawa´s disease in a Spanish family. Background: Dopa-Responsive Dystonia (DRD) is…Deep phenotyping adult onset isolated cervical dystonia; the importance of symptomatic anxiety and depression.
Objective: Objective:We aimed to characterise the demographic and clinical aspects of cervical dystonia (CD) patients with symptomatic anxiety and depression. We hypothesised that these patients…Atypical presentation of Dopa-responsive dystonia- late onset with severe swallowing difficulty
Objective: To learn about atypical presentation of Dopa-responsive dystonia (DRD) and give correct diagnose in time. Background: DRD compasses a group of clinically and genetically…Prospective Characterization of Genetically Confirmed X-linked Dystonia Parkinsonism Patients and their Families: A 1 year longitudinal feasibility study
Objective: A one year feasibility study for a planned prospective longitudinal study of X-linked Dystonia-Parkinsonism patients and their families in rural Philippines. Background: X-linked dystonia…Case of task-specific tremor and task-specific dystonia with contralateral spread
Objective: To describe a case of task-specific tremor and dystonia. Background: Task-specific tremor is a type of action tremor that occurs during specific tasks such…Task Specific Dystonia and Its Response to Botulinum Neurotoxin Treatment
Objective: To study the clinical features in task specific dystonia and its response to botulinum neurotoxin (BoNT) treatment. Background: Task specific dystonia is rare form…Dystonic versus parkinsonian tremor
Objective: To present cases of patients with diagnostic uncertainty between tremor in Parkinson’s disease (PD) and dystonic tremor. Background: Some patients with clinical presentation of…
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