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CACNA1C-Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological Presentation.
Pathogenic variants in CACNA1C have been associated with cardiac arrhythmias and neurodevelopmental disorders, occasionally accompanied by movement disorders. Here we report the case of a 66-year-old female patient with combined dystonia-pa…
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Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
[BACKGROUND] ADCY5-related movement disorders are typically paroxysmal dyskinesia (PxDs) and/or static hyperkinetic movement disorders. Nocturnal paroxysmal dyskinesia (PxD), facial or perioral dyskinesia are suggestive of this genetic diag…
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Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigms.
[BACKGROUND] Generalized dystonia is a complex and heterogeneous movement disorder characterized by sustained or intermittent muscle contractions that lead to abnormal postures and movements. [PATHOPHYSIOLOGY] It primarily arises from dysf…
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ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited.
[INTRODUCTION] Dystonia-deafness syndrome is a rare disorder characterized by dystonia with sensorineural hearing impairment. While various genetic causes have been identified, many cases remain unexplained. Deep brain stimulation of the gl…
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Treatment of cervical dystonia with abo- and onabotulinumtoxinA: long-term safety and efficacy in daily clinical practice.
[INTRODUCTION] Treatment with botulinum toxin A is the evidence-based first-line therapy of cervical dystonia. The aim of this study was to analyze long-term data of the most commonly used products concerning safety and efficacy in a big co…