Huntington-like disease type 2 caused by a JPH3 repeat expansion in a patient from Iraq
Objective: To report the case of a patient from Iraq with a Huntington disease-like phenotype who was found to have a heterozygous trinucleotide repeat expansion…Asymmetric periodic lower limb movements and malignant hypertension as an initial manifestation of atypical posterior reversible encephalopathy syndrome (PRES)
Objective: Our aim is to report a case of unusual manifestation of atypical posterior reversible encephalopathy syndrome (PRES), which showed periodic lower limb movements and…Real-World Experiences with VMAT2 Inhibitors in Pediatric Hyperkinetic Movement Disorders
Objective: We review the real-world prescribing practices and patient experiences with VMAT2 inhibitors in children. Background: Vesicular monoamine transporter 2 (VMAT2) inhibitors are often prescribed…Two Cases of SCN4A Temperature-Sensitive Sodium Channelopathy: From Dystonia to Myotonia
Objective: To evaluate whether these symptoms, previously categorized as dystonic, might represent manifestations of a temperature-sensitive channelopathy with myotonic features [1]. Background: We report two…Telehealth Follow-up for Craniofacial Dystonias Treated with Neurotoxin Injection: Physician Outcomes
Objective: To evaluate the potential benefits of a post-injection telehealth follow-up visit for people with craniofacial dystonia. Background: Craniofacial dystonias, including blepharospasm and oromandibular dystonia,…Adherence with Digital Outcome Measures in Focal Dystonias
Objective: We assessed patient adherence with an app-based patient-centered outcome (PCO) tool for focal dystonia in a prospective study to determine the impact of dystonia…Radiographic Resolution without Clinical Improvement in Anti-Ri Rhombencephalitis
Objective: To report a case of Anti-Ri Rhombencephalitis presenting with subacute ophthalmoplegia, jaw dystonia, and gait ataxia with minimal clinical improvement despite radiographic resolution after…Pilot Study: Shear Wave Elastography as a Potential Biomarker in Task-Specific Dystonia
Objective: The purpose of this study was to explore shear wave elastography (SWE)’s ability to identify task-specific dystonic muscles by determining if muscle stiffness increased…Extracorporeal Shockwave Therapy (ESWT) for Neck Pain and Shoulder-Scapular Dyskinesis: An Objective Evaluation Study
Objective: The aim was to objectively evaluate the role of shoulder and scapular movement in neck pain and assess the efficacy of ESWT for treatment.…Development and Testing of a Smartphone Application to Capture Patient-Centered Outcome (PCO) Measures for Dystonia
Objective: Develop a smartphone application to collect patient-centered outcome (PCO) measures for dystonia. Background: PCO measures tailored for each major adult-onset focal dystonia subtype (Cervical…
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