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 +31 more
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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.
Alexander Grimm +2 more
exaly +4 more sources
Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
Frontiers in Neurology, 2022 Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac ...
Ann Cordenier +7 more
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Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita [PDF]
NeuroMolecular Medicine, 2015 Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker’s disease) or dominant (Thomsen’s disease) MC are caused by mutations in the CLCN1
Simona Portaro +2 more
exaly +3 more sources
Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis [PDF]
Annals of Clinical and Translational NeurologyObjective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia).
Chris Dupont +4 more
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Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P [PDF]
Frontiers in PhysiologyIntroductionOur aims were to provide an integrated clinical and biophysical characterization of the rare variant NM_000334.4(SCN4A) c.4307T>C (p.Leu1436Pro; L1436P), affecting the skeletal muscle sodium channel Nav1.4, and to compare its functional ...
François Charles Wang +10 more
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Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations [PDF]
Italian Journal of PediatricsBackground Myotonia congenita (MC) is mainly caused by variants in the CLCN1 Gene, which is characterized by having difficulty in relaxing the muscle after active contraction, known as myotonia. This study aims to investigate the clinical characteristics
Xin Wang +5 more
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Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita [PDF]
Frontiers in GeneticsMyotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1.
Sabrina Lucchiari +10 more
doaj +2 more sources
Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated ...
Jie ZHONG +6 more
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Cushing’s Myopathy in Dogs: Prevalence, Clinical Abnormalities, and Response to Treatment [PDF]
AnimalsA distinct myotonia is a muscle disorder that may occur secondary to excess corticosteroids (hyperadrenocorticism, HAC, or Cushing’s disease) and is associated with electrodiagnostic abnormalities on electromyography (EMG).
Kate Hovious +3 more
doaj +2 more sources