Describing Dystonia Phenomenology and Preliminary Treatment Response in Migraine Patients
Objective: To describe dystonia phenomenology and preliminary pain response to toxin therapy in a single-center migraine cohort. Background: The co-existence of headache and craniocervical dystonia…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…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…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…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…Clinical Profile and Response to EMG-Guided Botulinum toxin (BTX) Injection in Writers’ Cramp (WC)- A Study of 25 Indian Patients
Objective: To study WC and its response to EMG-Guided BTX Background: Despite decades of use and popularity of BTX in WC, there is a paucity of…
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