- Case Report: An Atypical Presentation of Runner’s DystoniaObjective: N/A Background: Runner’s dystonia (RD) is a rare adult-onset focal limb task-specific dystonia. Most predominant phenotype of RD is reported to be dystonic foot…
- Subacute Severe Dystonia in a 19-month Old Boy. A Case of Pediatric Stiff Person Syndrome (SPS)Objective: To report a rare case of anti-GAD associated encephalitis with pediatric Stiff Person Syndrome (SPS) highlighting the need for broad investigations and extensive treatment.…
- Kinematic Features of Voluntary and Involuntary Head Movements in Cervical DystoniaObjective: To identify kinematic metrics that characterise and differentiate the motor manifestations of Cervical Dystonia (CD). Background: Motor manifestations of CD include phasic torsional movements,…
- Exploring the non-invasive epigenetic screening test for hereditary dystonia DYT-KMT2BObjective: To explore the altered H3K4me3 levels in non-neural tissue of DYT-KMT2B patients. Background: DYT-KMT2B, also known as DYT28, is a childhood-onset hereditary dystonia caused…
- Wilson’s Disease About A Complex CaseObjective: We report the case of a patient who experienced diagnostic wavering. Background: Wilson disease is a rare disease. Cases in Africa is even rarer.…
- Intrafamilial phenotypic variability of DYT-ANO3: Analyzing 14 affected members with a novel variantObjective: Delineation of phenotypic diversity of DYT-ANO3 in a large tribal family of Indian origin. Background: DYT-ANO3 (DYT24) is a rare cause of autosomal dominant…
- Severe Acute Spinal Cord Injury Due to Isolated Generalized DystoniaObjective: To report a case of isolated generalized dystonia causing severe cervical trauma Background: Rotational forces on the cervical spine leading to injury is a…
- Relationship Between Non-Motor Symptoms, Kinematic Features, and Quality of Life in Cervical DystoniaObjective: To assess the extent of non-motor symptoms (NMS) in Cervical Dystonia (CD) and investigate the interaction between NMS, kinematic metrics of motor severity, and…
- Beyond the Surface: Electromyography in Cervical DystoniaObjective: To evaluate the presence of co-contractions and overflow in cervical dystonia (CD) patients and appraise the applicability of intermuscular coherence as an objective biomarker…
- Impact of Surrounding Audio-Visual Complexity on Symptomatology of Laryngeal Dystonia: A Virtual Reality StudyObjective: We examine the impact of surrounding audio-visual on Laryngeal Dystonia (LD) symptomatology to better understand its phenomenology. Background: LD is an isolated focal dystonia…
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