keyword
https://read.qxmd.com/read/34828398/-kcng1-related-syndromic-form-of-congenital-neuromuscular-channelopathy-in-a-crossbred-calf
#21
JOURNAL ARTICLE
Joana G P Jacinto, Irene M Häfliger, Eylem Emek Akyürek, Roberta Sacchetto, Cinzia Benazzi, Arcangelo Gentile, Cord Drögemüller
Inherited channelopathies are a clinically and heritably heterogeneous group of disorders that result from ion channel dysfunction. The aim of this study was to characterize the clinicopathologic features of a Belgian Blue x Holstein crossbred calf with paradoxical myotonia congenita, craniofacial dysmorphism, and myelodysplasia, and to identify the most likely genetic etiology. The calf displayed episodes of exercise-induced generalized myotonic muscle stiffness accompanied by increase in serum potassium. It also showed slight flattening of the splanchnocranium with deviation to the right side...
November 12, 2021: Genes
https://read.qxmd.com/read/34789418/speech-and-language-abnormalities-in-myotonic-dystrophy-an-overview
#22
REVIEW
Sakhaa Hanoun, Yuyao Sun, Farzad Ebrahimi, Mehdi Ghasemi
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular and multisystem disease that is divided into two types, DM1 and DM2, according to mutations in DMPK and CNBP genes, respectively. DM patients may manifest with various speech and language abnormalities. In this review, we had an overview on speech and language abnormalities in both DM1 and DM2. Our literature search highlights that irrespective of age, all DM patients (i.e. congenital, juvenile, and adult onset DM1 as well as DM2 patients) exhibit various degrees of speech impairments...
February 2022: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://read.qxmd.com/read/34671263/new-challenges-resulting-from-the-loss-of-function-of-na-v-1-4-in-neuromuscular-diseases
#23
REVIEW
Sophie Nicole, Philippe Lory
The voltage-gated sodium channel Nav 1.4 is a major actor in the excitability of skeletal myofibers, driving the muscle force in response to nerve stimulation. Supporting further this key role, mutations in SCN4A , the gene encoding the pore-forming α subunit of Nav 1.4, are responsible for a clinical spectrum of human diseases ranging from muscle stiffness (sodium channel myotonia, SCM) to muscle weakness. For years, only dominantly-inherited diseases resulting from Nav 1.4 gain of function (GoF) were known, i...
2021: Frontiers in Pharmacology
https://read.qxmd.com/read/34378097/p-asn1180ile-mutation-of-scn4a-gene-in-an-italian-family-with-myopathy-and-myotonic-syndrome
#24
JOURNAL ARTICLE
Andrea Rigamonti, Vittorio Mantero, Lorenzo Peverelli, Serena Pagliarani, Sabrina Lucchiari, Giacomo Comi, Sara Gibertini, Andrea Salmaggi
INTRODUCTION: Mutations of the skeletal muscle sodium channel gene SCN4A are associated with several neuromuscular disorders including hyper/hypokaliemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are distinguished from dystrophic myotonias by the absence of progressive weakness and extramuscular systemic involvement. METHODS: We present an Italian family with 2 subjects carrying a p.Asn1180Ile mutation in SCN4A gene showing a peculiar clinical picture characterized by the association of myopathic features and myotonia...
December 2021: Neurological Sciences
https://read.qxmd.com/read/34106991/diagnostic-yield-of-exome-sequencing-in-myopathies-experience-of-a-slovenian-tertiary-centre
#25
JOURNAL ARTICLE
Ivana Babić Božović, Aleš Maver, Lea Leonardis, Marija Meznaric, Damjan Osredkar, Borut Peterlin
BACKGROUND: Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies. METHODS: Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected based on the history of the disease, family history, clinical presentation, and diagnostic workup. Exome target capture was performed, followed by sequencing on HiSeq 2500 or MiSeq platforms. Data analysis was performed using internally developed bioinformatic pipeline...
2021: PloS One
https://read.qxmd.com/read/33464536/association-of-three-different-mutations-in-the-clcn1-gene-modulating-the-phenotype-in-a-consanguineous-family-with-myotonia-congenita
#26
JOURNAL ARTICLE
Lucas Santos Souza, Priscila Calyjur, Antonio Fernando Ribeiro, Juliana Gurgel-Giannetti, Rita Cassia Mingroni Pavanello, Mayana Zatz, Mariz Vainzof
Myotonia congenita is a genetic disease caused by mutations in the CLCN1 gene, which encodes for the major chloride skeletal channel ClC-1, involved in the normal repolarization of muscle action potentials and consequent relaxation of the muscle after contraction. Two allelic forms are recognized, depending on the phenotype and the inheritance pattern: the autosomal dominant Thomsen disease with milder symptoms and the autosomal recessive Becker disorder with a severe phenotype. Before the recent advances of molecular testing, the diagnosis and genetic counseling of families was a challenge due to the large number of mutations in the CLCN1 gene, found both in homozygous or in heterozygous state...
January 19, 2021: Journal of Molecular Neuroscience: MN
https://read.qxmd.com/read/33329012/paxilline-prevents-the-onset-of-myotonic-stiffness-in-pharmacologically-induced-myotonia-a-preclinical-investigation
#27
JOURNAL ARTICLE
Kerstin Hoppe, Tina Sartorius, Sunisa Chaiklieng, Georg Wietzorrek, Peter Ruth, Karin Jurkat-Rott, Scott Wearing, Frank Lehmann-Horn, Werner Klingler
Reduced Cl- conductance causes inhibited muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. This represents the pathomechanism of myotonia congenita. Due to the prevailing data suggesting that an increased potassium level is a main contributor, we studied the effect of a modulator of a big conductance Ca2+ - and voltage-activated K+ channels (BK) modulator on contraction and relaxation of slow- and high-twitch muscle specimen before and after the pharmacological induction of myotonia...
2020: Frontiers in Physiology
https://read.qxmd.com/read/33325393/targeted-therapies-for-skeletal-muscle-ion-channelopathies-systematic-review-and-steps-towards-precision-medicine
#28
Jean-François Desaphy, Concetta Altamura, Savine Vicart, Bertrand Fontaine
BACKGROUND: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital myopathies. The treatment of these diseases is mainly symptomatic, aimed at reducing muscle excitability in NDM or modifying triggers of attacks in PP. OBJECTIVE: This systematic review collected the evidences regarding effects of pharmacological treatment on muscle ion channelopathies, focusing on the possible link between treatments and genetic background...
2021: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/33304817/genetic-cause-of-heterogeneous-inherited-myopathies-in-a-cohort-of-greek-patients
#29
JOURNAL ARTICLE
Ioannis Zaganas, Vasilios Mastorodemos, Martha Spilioti, Lambros Mathioudakis, Helen Latsoudis, Kleita Michaelidou, Dimitra Kotzamani, Konstantinos Notas, Konstantinos Dimitrakopoulos, Irene Skoula, Stefanos Ioannidis, Eirini Klothaki, Sophia Erimaki, Georgios Stavropoulos, Vassilios Vassilikos, Georgios Amoiridis, Georgios Efthimiadis, Athanasios Evangeliou, Panayiotis Mitsias
Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presentation and laboratory and electrophysiological findings and absence of known acquired causes of myopathy. Of these, 16 patients (8 females, median 24 years-old, range 7 to 67 years-old) were diagnosed by Whole Exome Sequencing as suffering from a specific type of inherited muscle disorder...
December 2020: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/32849172/clinical-and-molecular-spectrum-of-myotonia-and-periodic-paralyses-associated-with-mutations-in-scn4a-in-a-large-cohort-of-italian-patients
#30
JOURNAL ARTICLE
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, 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
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 paralysis (HyperPP/NormoPP); in addition, rare phenotypes associated with mutations in SCN4A are congenital myasthenic syndrome and congenital myopathy. However, only scarce data have been reported in literature on large patient cohorts including phenotypes characterized by myotonia and episodes of paralysis...
2020: Frontiers in Neurology
https://read.qxmd.com/read/32655465/long-term-safety-and-usefulness-of-mexiletine-in-a-large-cohort-of-patients-affected-by-non-dystrophic-myotonias
#31
JOURNAL ARTICLE
Anna Modoni, Adele D'Amico, Guido Primiano, Fiorentino Capozzoli, Jean-François Desaphy, Mauro Lo Monaco
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 Universitario A. Gemelli Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Rome and the Children's Hospital Bambino Gesù, Rome. Methods: The treatment was accepted by 59 patients according to clinical severity, individual needs, and concerns about a chronic medication...
2020: Frontiers in Neurology
https://read.qxmd.com/read/32619119/concurrent-sodium-channelopathies-and-amyotrophic-lateral-sclerosis-supports-shared-pathogenesis
#32
JOURNAL ARTICLE
John P Franklin, Johnathan Cooper-Knock, Aravindhan Baheerathan, Tobias Moll, Roope Männikkö, Mark Heverin, Orla Hardiman, Pamela J Shaw, Michael G Hanna
Amyotrophic lateral sclerosis (ALS) is an invariably fatal adult-onset neurodegenerative disorder; approximately 10% of ALS is monogenic but all ALS exhibits significant heritability. The skeletal muscle sodium channelopathies are a group of inherited, non-dystrophic ion channel disorders caused by heterozygous point mutations in the SCN4A gene, leading to clinical manifestations of congenital myotonia, paramyotonia, and periodic paralysis syndromes. We provide clinical and genetic evidence of concurrence of these two rare disorders which implies a possible shared underlying pathophysiology in two patients...
November 2020: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://read.qxmd.com/read/32558419/congenital-myotonia-a-review-of-twenty-cases-and-a-new-splice-site-mutation-in-the-clcn1-gene
#33
REVIEW
Nezir Özgün, Hasan Taşlıdere
BACKGROUND AND OBJECTIVES: Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease). CM is more common in men and Becker myotonia may be 10 times more common than Thomsen myotonia. Genotypic and phenotypic characteristics of CM may vary according to geographical region and ethnicity. METHOD: In this study, we present the genotypic and phenotypic characteristics of 20 Turkish CM patients all diagnosed by molecular genetic testing...
2020: Turkish Journal of Pediatrics
https://read.qxmd.com/read/32142633/muscle-and-brain-sodium-channelopathies-genetic-causes-clinical-phenotypes-and-management-approaches
#34
REVIEW
Emma Matthews, Simona Balestrini, Sanjay M Sisodiya, Michael G Hanna
Voltage-gated sodium channels are essential for excitability of skeletal muscle fibres and neurons. An increasing number of disabling or fatal paediatric neurological disorders linked to mutations of voltage-gated sodium channel genes are recognised. Muscle phenotypes include episodic paralysis, myotonia, neonatal hypotonia, respiratory compromise, laryngospasm or stridor, congenital myasthenia, and myopathy. Evidence suggests a possible link between sodium channel dysfunction and sudden infant death. Increasingly recognised phenotypes of brain sodium channelopathies include several epilepsy disorders and complex encephalopathies...
March 3, 2020: Lancet Child & Adolescent Health
https://read.qxmd.com/read/32117035/myotonic-myopathy-with-secondary-joint-and-skeletal-anomalies-from-the-c-2386c-g-p-l769v-mutation-in-scn4a
#35
JOURNAL ARTICLE
Nathaniel Elia, Trystan Nault, Hugh J McMillan, Gail E Graham, Lijia Huang, Stephen C Cannon
The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene ( SCN4A ) has expanded with advancements in genetic testing. Autosomal dominant SCN4A mutations were first linked to hyperkalemic periodic paralysis, then subsequently included paramyotonia congenita, several variants of myotonia, and finally hypokalemic periodic paralysis. Biallelic recessive mutations were later identified in myasthenic myopathy and in infants showing a severe congenital myopathy with hypotonia. We report a patient with a pathogenic de novo SCN4A variant, c...
2020: Frontiers in Neurology
https://read.qxmd.com/read/32026975/anesthetic-management-of-a-patient-with-sodium-channel-myotonia-a-case-report
#36
JOURNAL ARTICLE
Naohisa Matsumoto, Rei Nishimoto, Yoshikazu Matsuoka, Yoshimasa Takeda, Hiroshi Morimatsu
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 much lower. To our knowledge, this is the first report on anesthetic management of a patient with SCM. CASE PRESENTATION: A 23-year-old woman with congenital nasal dysplasia and SCM was scheduled to undergo rhinoplasty with autologous costal cartilage...
November 25, 2019: JA Clinical Reports
https://read.qxmd.com/read/31609695/a-novel-de-novo-heterozygous-scn4a-mutation-causing-congenital-myopathy-myotonia-and-multiple-congenital-anomalies
#37
JOURNAL ARTICLE
Megan Waldrop, Jakkrit Amornvit, Christopher R Pierson, Daniel R Boue, Zarife Sahenk
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 recessive mutations have been found causing congenital myopathies and congenital myasthenic syndromes. CASE PRESENTATION: A 27-year-old woman who was born with Arnold-Chiari malformation, hydrocephalus, high-arched palate, bilateral hip dysplasia, and severe scoliosis presented for evaluation of episodic muscle stiffness and weakness...
2019: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/31567646/electromyographic-features-in-a-chinese-cohort-with-hereditary-skeletal-muscle-channelopathies
#38
JOURNAL ARTICLE
Jian Sun, Sushan Luo, Jie Song, Jun Huang, Shuang Cai, Wenhua Zhu, Lei Zhou, Jianying Xi, Jie Lin, Jiahong Lu, Minjie Xu, Tonghai Dou, Chongbo Zhao, Kai Qiao
PURPOSE: Hereditary skeletal muscle channelopathies are characterized by muscle stiffness and/or periodic muscle weakness because of different gene mutations. The objective of this study was to investigate the clinical and electromyographic phenotypes in Chinese patients with different skeletal ion channel mutations. METHODS: The electromyographic results of 61 Chinese patients with skeletal muscle channelopathies were retrospectively reviewed and the differential features were characterized...
September 25, 2019: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://read.qxmd.com/read/31195993/a-case-report-of-psychiatric-symptoms-following-direct-acting-antiviral-and-ribavirin-combination-therapy-for-chronic-hepatitis-c-in-a-patient-with-innate-anxiety
#39
JOURNAL ARTICLE
Akira Sakamaki, Kenya Kamimura, Naoki Fukui, Haruka Watanabe, Norihiro Sakai, Kentaro Tominaga, Kenichi Mizuno, Masaaki Takamura, Hirokazu Kawai, Takuro Sugai, Satoshi Yamagiwa, Toshiyuki Someya, Shuji Terai
BACKGROUND: Direct-acting antivirals (DAAs) result in a highly sustained virological response rate and better patient tolerance. However, this therapeutic approach may, on rare occasions, give rise to psychiatric symptoms. We describe a case requiring discontinuation of DAA and ribavirin combination therapy due to psychiatric symptoms in a patient with congenital anxious personality traits. The information summarized here will be helpful to physicians treating chronic hepatitis C virus (HCV) infection in patients with underlying psychiatric problems...
June 13, 2019: BMC Gastroenterology
https://read.qxmd.com/read/31105770/advances-in-imaging-of-brain-abnormalities-in-neuromuscular-disease
#40
REVIEW
Corrado Angelini, Elena Pinzan
Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases by consulting the main libraries ( Pubmed, Scopus and Google Scholar ) including the more common forms of muscular dystrophies such as dystrophinopathies, dystroglycanopathies, myotonic dystrophies, facioscapulohumeral dystrophy, limb-girdle muscular dystrophy, congenital myotonia, and congenital myopathies...
2019: Therapeutic Advances in Neurological Disorders
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