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…Ultrasound Assessment of Collagen Content in Contracted and Non-contracted Muscle Areas: A Comparative Study
Objective: The objective of this study was to evaluate the feasibility and reliability of ultrasound imaging as a method to estimate collagen content in contracted…Efficacy and safety of Mexiletine versus Placebo in patients with myotonia: A Systematic Review and Meta-analysis
Objective: We conducted this study to be the first systematic review and meta-analysis to investigate the efficacy and safety of mexiletine in the treatment of patients…Neuromyotonia in surgical scars: two case reports and review of literature.
Objective: Report and describe the clinic, neurophysiology and therapeutic response of two cases of neuromyotonia after a surgical wound, and review the literature on the…Myotonic Dystrophy type 1 presenting as postural tremor
Objective: Description of a clinical case of extra-pyramidal features in a patient with myotonic dystrophy type 1. Background: Myotonic dystrophy type 1 (MD-1) is an…Ultrasound-controlled percutaneous neuromodulation alleviates muscle activation in physiotherapy practice
Objective: The aim was to evaluate efficacy and clinical relevance of percutaneous NM to alleviate muscle activation in physiotherapy practice. Background: Muscle activation has a…Fractal analysis of muscle ultrasound imaging to evaluate muscle health and spasticity
Objective: The aim was to assess the capabilities of using fractal analysis of neuromuscular ultrasound images to evaluate muscle health and spasticity. Background: Ultrasound (US)…Relationship between CTG repeats, Muscle Weakness and Respiratory Dysfunction in Myotonic Dystrophy Type 1
Objective: This study aims to assess the association between CTG repeats, muscle weakness and respiratory dysfunction in a cohort of individuals with myotonic dystrophy type…A patient with myotonic dystrophy type 1 and parkinsonism
Objective: We report the first case of myotonic dystrophy (DM) type 1 with DMPK mutations presenting with parkinsonian syndrome. Background: DM type 1 is a…Сase of myotonic dystrophy
Objective: Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. Background: Classical DM (DM1) has been identified as an…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.