Advances in assessing myotonia: Can sensor-engineered glove have a role?
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.01.038
Abstract: Non-dystrophic (NDMs) and Dystrophic Myotonias (DMs) are diseases characterized by the presence of myotonia with or without muscle weakness. A standardized myotonia assessment is important to more objectively quantify the handgrip myotonia. We screened 10… read more here.
Keywords: sensor engineered; myotonia; engineered glove; ndm patients ... See more keywords
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2016.09.023
Abstract: In sodium channelopathies, a severe fixed myopathy caused by a dominant mutation is rare. We describe two unrelated patients with a novel variant, p.Ile1455Thr, with phenotypes of paramyotonia in one case and fixed proximal myopathy… read more here.
Keywords: myotonia; sodium; proximal myopathy; channel ... See more keywords
Brody disease: when myotonia is not myotonia
Sign Up to like & getrecommendations! Published in 2019 at "Practical Neurology"
DOI: 10.1136/practneurol-2019-002224
Abstract: A 56-year-old man presented with painless impairment of muscle relaxation on vigorous contraction (eg, eyelid closure, hand grip, running). There were no episodes of paralysis, symptom progression, weakness or extramuscular symptoms. Five of his fifteen… read more here.
Keywords: brody disease; disease myotonia; myotonia; muscle relaxation ... See more keywords
Anesthetic management of a patient with sodium-channel myotonia: a case report
Sign Up to like & getrecommendations! Published in 2019 at "JA Clinical Reports"
DOI: 10.1186/s40981-019-0300-8
Abstract: BackgroundSodium-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 much lower.… read more here.
Keywords: channel myotonia; management patient; myotonia; anesthetic management ... See more keywords
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events
Sign Up to like & getrecommendations! Published in 2020 at "Wellcome Open Research"
DOI: 10.12688/wellcomeopenres.15798.2
Abstract: Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the SCN4A gene,… read more here.
Keywords: resolved unexplained; brief resolved; high risk; myotonia ... See more keywords
A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-190425
Abstract: BACKGROUND The phenotypic spectrum of the skeletal muscle voltage-gated sodium channel gene (SCN4A) mutations has been expanding dramatically with advancements in genetic testing. Previously only known to cause autosomal dominant myotonia or periodic paralysis, now… read more here.
Keywords: congenital myopathy; myotonia; novel novo; novo heterozygous ... See more keywords
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.00063
Abstract: Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1. According to… read more here.
Keywords: type myotonia; myotonia congenita; becker; myotonia ... See more keywords
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia
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DOI: 10.3389/fneur.2020.01019
Abstract: Objective: Myotonia congenita (MC) is a rare muscle disease characterized by sarcolemma over-excitability inducing skeletal muscle stiffness. It can be inherited either as an autosomal dominant (Thomsen's disease) or an autosomal recessive (Becker's disease) trait.… read more here.
Keywords: g411c; mutant channels; myotonia; becker ... See more keywords
The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.830707
Abstract: Introduction Non-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. Methods We… read more here.
Keywords: myotonia; pmc patients; muscle; pathology ... See more keywords