Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis [PDF]
Frontiers in Neurology, 2022 Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Serena Pagliarani +5 more
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Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia – a case report [PDF]
BMC Anesthesiology, 2021 Background Paramyotonia congenita is a rare autosomal dominant myopathy which presents with periodic weakness due to cold and exercise. It is caused by mutations of the SCN4 gene which encodes the sodium channel in skeletal muscles.
Wei Shyan Siow, Wan-Ling Alyssa Chiew
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Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita [PDF]
Biology, 2022 Paramyotonia congenita (PMC) is a rare skeletal muscle disorder characterized by muscle stiffness upon repetitive exercise and cold exposure. PMC was reported to be caused by dominant mutations in the SCN4A gene encoding the α subunit of the Nav1.4 ...
Ming-Jen Lee +5 more
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Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita [PDF]
Biomedicines, 2021 Paramyotonia congenita (PMC) is a rare hereditary skeletal muscle disorder. The major symptom, muscle stiffness, is frequently induced by cold exposure and repetitive exercise. Mutations in human SCN4A gene, which encodes the α-subunit of Nav1.4 channel,
Chiung-Wei Huang +3 more
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Case Report: General Anesthetic Management for Laparoscopic Cholecystectomy in Paramyotonia Congenita [PDF]
International Journal of Medical Students, 2020 Background: Paramyotonia congenita (PC) is a rare disorder affecting skeletal muscle. Patients with this non-progressive condition experience intermittent episodes of sustained myotonia.
Analise McGreal +2 more
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High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report [PDF]
Journal of Medical Case ReportsBackground Severe neonatal episodic laryngospasm has been previously reported in multiple patients with the heterozygous pathogenic variant G1306E in SCN4A.
Vanessa Ogueri +6 more
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The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia [PDF]
Frontiers in Neurology, 2022 IntroductionNon-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.MethodsWe reviewed ...
Quanquan Wang +6 more
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Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing [PDF]
Genomics Data, 2015 Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities.
Jinxin Li +7 more
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Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita [PDF]
Scientific ReportsMyotonia and paramyotonia congenita (PC) are rare neuromuscular disorders characterized by muscle stiffness that intensifies in cold environments. These disorders are associated with variants in the SCN4A gene, that encodes the alpha subunit of the ...
Quentin Plumereau +3 more
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Anesthetic management of a patient with sodium-channel myotonia: a case report [PDF]
JA Clinical Reports, 2019 Background Sodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is ...
Naohisa Matsumoto +4 more
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