Paroxysmal Kinesigenic Dyskinesia caused by a novel missense variant in NBEA
Objective: We describe a patient who presented to our movement disorder center for unilateral dystonic spells which last seconds and triggered by sudden movements. Genetic…Childhood-onset writer’s cramp evolving to generalised dystonia –a new mutation in KMT2B gene
Objective: To present a case of childhood-onset dystonia with a new mutation in KMT2B gene. Background: KMT2B-related dystonia (DYT-KMT2B) is an increasingly recognized cause of…Hereditary generalised dystonia associated with a new large duplication on the X chromosome
Objective: To describe a family with a new variant in X chromosome as possible aetiology for inherited generalised dystonia. Background: Chromosomopathies are rare but well-known…Long-term outcomes of deep brain stimulation for VPS16-related dystonia: A multi-center international study
Objective: To evaluate long-term effects of DBS in an international cohort of people with VPS16-related dystonia. Background: Variants in VPS16 gene have recently been related…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…
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