VPS11 associated movement disorder in a pediatric case
Objective: Disorders of intracellular trafficking may present with different neurological features such as pediatric movement disorders. Background: A 15-year-old boy presented with a three-year history…Oh man: Why are males more prone to Musician’s Dystonia?
Objective: Our objective was to evaluate gender differences of risk factors contributing to the development of Musician’s Dystonia. Background: Musician’s Dystonia (MD) is a task…PRRT2 paroxysmal dyskinesia mimicking functional motor disorders: a pediatric case.
Objective: This report highlights how challenging the differential diagnosis between organic and functional motor disorders may be. Indeed, atypical presentations and overlapping features of movement…Pediatric Myoclonus-Dystonia misdiagnosed as CASPR2 encephalitis – a diagnostic challenge
Objective: Describe the clinical/laboratory challenges in diagnosis of myoclonus-dystonia at a young age Background: SGCE Myoclonus-Dystonia (SGCE-M-D) is a genetic movement disorder characterized by multifocal…Dystonic tremor as main manifestation of a large SCA21 family
Objective: To identify the genetic cause of disease in a French family with multiple members affected by dystonic tremor with autosomal dominant inheritance. Background: Spinocerebellar…A Peruvian family with neurodegeneration with ataxia, dystonia and gaze palsy, childhood-onset (NADGP): A case report
Objective: To describe the clinical features of three affected siblings with NADGP Background: Neurodegeneration with ataxia, dystonia and gaze palsy, childhood-onset (NADGP), is an autosomal…POLR3A-Related Disorders and Response to Deep Brain Stimulation
Objective: To expand on the phenotypic spectrum of POLR3A c.1909+22G>A splice variant and report two patients’ tremor response to deep brain stimulation. Background: Polymerase III…Variant frequencies in dystonia and Parkinson’s disease genes cross phenotypic boundaries
Objective: To investigate the frequency of genetic variants in dystonia (DYT) genes in patients with PD and vice versa. Background: The impact of genetic variants…Prevalence of seizures in patients with Neurodegeneration with Brain Iron Accumulation
Objective: To investigate the frequency and pattern of seizures in Neurodegeneration with brain iron accumulation (NBIA) disorders in a South Indian cohort. Background: Seizure as…The role of genetic testing in Dystonia diagnosis
Objective: To determine the contribution of different approaches to the clinical use of genetic tests in dystonia diagnosis. Background: Dystonias are a heterogeneous group of…
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