Results 21 to 30 of about 6,556 (183)

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

Frontiers in Neurology, 2020
Objective: The aim of our study was to evaluate the long-term efficacy and safety of mexiletine in 112 patients affected by genetically confirmed non-dystrophic myotonias. The study was performed at the Neurophysiologic Division of Fondazione Policlinico
Anna Modoni, Adele D'Amico, Guido Primiano, Fiorentino Capozzoli, Jean-François Desaphy, Mauro Lo Monaco, Mauro Lo Monaco   +6 more
doaj   +1 more source

Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia

SAGE Open Medical Case Reports, 2017
Objectives: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. Methods: Case report.
Josef Finsterer, Georg Safoschnik, Martina Witsch-Baumgartner   +2 more
doaj   +1 more source

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

BMC Neurology, 2019
Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs.
Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama   +7 more
doaj   +1 more source

MYOTONIA CONGENITA [PDF]

Journal of the American Medical Association, 1915
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openaire   +2 more sources

Myotonia

Neurologic Clinics, 1988
The clinical and electrophysiologic features of myotonia can be seen in a number of human diseases as well as in several well-studied animal models. In some cases the underlying pathophysiologic mechanism has been defined, but different and as yet undetermined membrane abnormalities are present in others.
openaire   +2 more sources

Cannabidiol Selectively Binds to the Voltage-Gated Sodium Channel Na_v1.4 in Its Slow-Inactivated State and Inhibits Sodium Current

Biomedicines, 2021
Cannabidiol (CBD), one of the cannabinoids from the cannabis plant, can relieve the myotonia resulting from sodium channelopathy, which manifests as repetitive discharges of muscle membrane.
Chiung-Wei Huang, Pi-Chen Lin, Jian-Lin Chen, Ming-Jen Lee   +3 more
doaj   +1 more source

MYOTONIA ATROPHICA [PDF]

JAMA: The Journal of the American Medical Association, 1913
n ...
openaire   +2 more sources

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Frontiers in Neurology, 2020
Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic ...
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi   +31 more
doaj   +1 more source

Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia

Diagnostics, 2021
Myotonia, i.e., delayed muscle relaxation in certain hereditary muscle disorders, can be assessed quantitatively using different techniques ranging from force measurements to electrodiagnostics.
Cornelius Kronlage, Alexander Grimm, Alyssa Romano, Jan-Hendrik Stahl, Pascal Martin, Natalie Winter, Justus Marquetand   +6 more
doaj   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source