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https://www.readbyqxmd.com/read/29184538/circulating-irisin-is-reduced-in-male-patients-with-type-1-and-type-2-myotonic-dystrophies
#1
Elena Dozio, Elena Passeri, Rosanna Cardani, Stefano Benedini, Carmen Aresta, Rea Valaperta, Massimiliano Corsi Romanelli, Giovanni Meola, Valeria Sansone, Sabrina Corbetta
Context: Myotonic dystrophies (DM) are dominantly inherited muscle disorders characterized by myotonia, muscle weakness, and wasting. The reasons for sarcopenia in DMs are uncleared and multiple factors are involved. Irisin, a positive hormone regulator of muscle growth and bone, may play a role. Objectives: To investigate (1) circulating irisin in a series of DM1 and DM2 male patients compared with healthy controls and (2) the relationships between irisin and anthropometric, metabolic and hormonal parameters...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#2
Sharon Zierath, Angela M Hughes, Neale Fretwell, Mark Dibley, Kari J Ekenstedt
BACKGROUND: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Further, veterinarians and dog owners typically dismiss inherited/genetic diseases as possibilities for health problems in mixed-breed dogs, assuming hybrid vigor will guarantee that single-gene disease mutations are not a cause for concern...
2017: PloS One
https://www.readbyqxmd.com/read/29160548/botulinum-toxin-for-treating-unilateral-apraxia-of-eyelid-opening-in-a-patient-with-congenital-myotonia
#3
Estrella Fernández, Marta Latasiewicz, Laura Pelegrin, Manuel Romera, Silvana Schellini, Alicia Galindo-Ferreiro
A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A) injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid...
September 2017: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/29111379/a-scn4a-mutation-causing-paramyotonia-congenita
#4
Carmen Palma, Carmen Prior, Clara Gómez-González, Carlos Rodríguez-Antolin, Paloma Martínez-Montero, Lucía Pérez de Ayala, Samuel I Pascual, Jesús Molano Mateos
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMIM 170500, 613345). It is estimated that more than 20% of patients with suspected myotonia congenita suffer paramyotonia congenita. The two related SCN4A phenotypes exhibit an autosomal dominant inheritance and are the result of mutations that cause an increase in the function of the protein coded by this gene...
September 25, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29105112/dynamin-2-associated-myopathy-with-electrical-but-not-clinical-myotonia
#5
Amro M Stino, Stanley J Iyadurai
No abstract text is available yet for this article.
November 3, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29088983/what-the-internist-should-know-about-hereditary-muscle-channelopathies
#6
Véronique Bissay, Sophie C H Van Malderen
OBJECTIVES: Non-dystrophic myotonia, periodic paralysis and, to a certain extent, myotonic dystrophies are rare hereditary skeletal muscle channelopathies, charactarized by myotonia or episodic muscle weakness. This review highlights the diagnostic challenges and treatment options. RESULTS: Some of these rare skeletal muscle disorders are associated with a broad range of systemic and nonspecific muscle symptoms. Consequently, patients are often referred to the internist before seeing a neurologist...
October 31, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29056323/impeding-transcription-of-expanded-microsatellite-repeats-by-deactivated-cas9
#7
Belinda S Pinto, Tanvi Saxena, Ruan Oliveira, Héctor R Méndez-Gómez, John D Cleary, Lance T Denes, Ona McConnell, Juan Arboleda, Guangbin Xia, Maurice S Swanson, Eric T Wang
Transcription of expanded microsatellite repeats is associated with multiple human diseases, including myotonic dystrophy, Fuchs endothelial corneal dystrophy, and C9orf72-ALS/FTD. Reducing production of RNA and proteins arising from these expanded loci holds therapeutic benefit. Here, we tested the hypothesis that deactivated Cas9 enzyme impedes transcription across expanded microsatellites. We observed a repeat length-, PAM-, and strand-dependent reduction of repeat-containing RNAs upon targeting dCas9 directly to repeat sequences; targeting the non-template strand was more effective...
November 2, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29050397/the-antimyotonic-effect-of-lamotrigine-in-non-dystrophic-myotonias-a-double-blind-randomized-study
#8
RANDOMIZED CONTROLLED TRIAL
Grete Andersen, Gitte Hedermann, Nanna Witting, Morten Duno, Henning Andersen, John Vissing
Mexiletine is the only drug with proven effect for treatment of non-dystrophic myotonia, but mexiletine is expensive, has limited availability and several side effects. There is therefore a need to identify other pharmacological compounds that can alleviate myotonia in non-dystrophic myotonias. Like mexiletine, lamotrigine is a sodium channel blocker, but unlike mexiletine, lamotrigine is available, inexpensive, and well tolerated. We investigated the potential of using lamotrigine for treatment of myotonia in patients with non-dystrophic myotonias...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29048924/de-novo-mutation-in-cacna1s-gene-in-a-20-year-old-man-diagnosed-with-metabolic-myopathy
#9
Masoud Edizadeh, Raheleh Vazehan, Fatemeh Javadi, Shima Dehdahsi, Mahsa Fadaee, Mehrshid Faraji Zonooz, Elham Parsimehr, Fatemeh Ahangari, Ayda Abolhassani, Zahra Kalhor, Zohreh Fattahi, Maryam Beheshtian, Ariana Kariminejad, Mohammad Reza Akbari, Hossein Najmabadi, Shahriar Nafissi
The calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent processes such as muscle contraction and neurotransmitter release. Mutations in this gene have been accompanied by hypo- and normokalemic periodic paralysis, thyrotoxic periodic paralysis, and susceptibility to malignant hyperthermia. We report the clinical and genetic findings in a patient diagnosed with metabolic myopathy who had episodic attacks of muscle pain and weakness but with no family background of the disease...
September 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28993909/coexistence-of-clcn1-and-scn4a-mutations-in-one-family-suffering-from-myotonia
#10
Lorenzo Maggi, Sabrina Ravaglia, Alessandro Farinato, Raffaella Brugnoni, Concetta Altamura, Paola Imbrici, Diana Conte Camerino, Alessandro Padovani, Renato Mantegazza, Pia Bernasconi, Jean-François Desaphy, Massimiliano Filosto
Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c...
October 9, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28940424/n1366s-mutation-of-human-skeletal-muscle-sodium-channel-causes-paramyotonia-congenita
#11
Qing Ke, Jia Ye, Siyang Tang, Jin Wang, Benyan Luo, Fang Ji, Xu Zhang, Ye Yu, Xiaoyang Cheng, Yuezhou Li
KEY POINTS: Paramyotonia congenita is a hereditary channelopathy caused by missense mutations in the SCN4A gene, which encodes the α subunit of the human skeletal muscle voltage-gated sodium channel NaV1.4. Affected individuals suffered from myotonia and paralysis of muscles, which were aggravated by exposure to cold. We report a three-generation Chinese family with patients presenting paramyotonia congenita and identify a novel N1366S mutation of NaV1.4. Whole-cell electrophysiological recordings of the N1366S channel reveal a gain-of-function change of gating in response to cold...
November 15, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28939973/sodium-channelopathies-of-skeletal-muscle
#12
Stephen C Cannon
The NaV1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost all of the inward Na(+) current that generates the action potential, but is not present at significant levels in other tissues. Consequently, mutations of SCN4A encoding NaV1.4 produce pure skeletal muscle phenotypes that now include six allelic disorders: sodium channel myotonia, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, congenital myasthenia, and congenital myopathy with hypotonia...
September 23, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28939972/effects-of-benzothiazolamines-on-voltage-gated-sodium-channels
#13
Alessandro Farinato, Concetta Altamura, Jean-François Desaphy
Benzothiazole is a versatile fused heterocycle that aroused much interest in drug discovery as anticonvulsant, neuroprotective, analgesic, anti-inflammatory, antimicrobial, and anticancer. Two benzothiazolamines, riluzole and lubeluzole, are known blockers of voltage-gated sodium (Nav) channels. Riluzole is clinically used as a neuroprotectant in amyotrophic lateral sclerosis. Inhibition of Nav channels by riluzole is voltage-dependent due to preferential binding to inactivated sodium channels. Yet the drug exerts little use-dependent block, probably because it lacks protonable amine...
September 23, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28877545/in-vivo-assessment-of-muscle-membrane-properties-in-the-sodium-channel-myotonias
#14
S Veronica Tan, Werner J Z'Graggen, Michael G Hanna, Hugh Bostock
INTRODUCTION: The gain-of-function mutations that underlie sodium channel myotonia (SCM) and paramyotonia congenital (PMC) produce differing clinical phenotypes. We used muscle velocity recovery cycles (MVRCs) to investigate membrane properties. METHODS: MVRCs and responses to trains of stimuli were compared in patients with SCM (n = 9), PMC (n = 8), and normal controls (n = 26). RESULTS: The muscle relative refractory period was reduced in SCM, consistent with faster recovery of the mutant sodium channels from inactivation...
September 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28833464/inhibiting-persistent-inward-sodium-currents-prevents-myotonia
#15
Ahmed A Hawash, Andrew A Voss, Mark M Rich
OBJECTIVE: Patients with myotonia congenita have muscle hyperexcitability due to loss-of-function mutations in the ClC-1 chloride channel in skeletal muscle, which causes involuntary firing of muscle action potentials (myotonia), producing muscle stiffness. The excitatory events that trigger myotonic action potentials in the absence of stabilizing ClC-1 current are not fully understood. Our goal was to identify currents that trigger spontaneous firing of muscle in the setting of reduced ClC-1 current...
September 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28810563/dystrophia-myotonica-type-1-presenting-with-dysarthria-a-case-report-and-literature-review
#16
Chunrong Li, Xiaoling Zhang, Chunkui Zhou, Lijun Zhu, Kangding Liu, Shaokuan Fang
Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28782311/myotonic-dystrophy-type-1-clinical-electrophysiological-and-molecular-characterization-experience-at-tertiary-care-centre
#17
Satish Khadilkar, Kamlesh Jagiasi, Jayendra Yadav, Sushant V Chavan, Girish Soni, Bhagyadhan Patel
OBJECTIVE: Myotonic dystrophy type 1 (DM1) is the most common myotonic disorder. Molecular genetic testing of the Dystrophia Myotonica-Protein Kinase DMPK gene to detect expansion of CTG repeats is confirmatory. TP-PCR (Triplet Primed-Polymerase Chain Reaction) is rapid and effective screening for the CTG repeat expansions in myotonic dystrophy. Indian data regarding clinical and genetic evaluation of DM1 are sparse. MATERIAL AND METHODS: This was a prospective observational study at a tertiary neurology centre...
June 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28715597/the-proposal-of-a-clinical-protocol-to-assess-central-and-peripheral-fatigue-in-myotonic-dystrophy-type-1
#18
S Baldanzi, G Ricci, M Bottari, L Chico, C Simoncini, G Siciliano
DM1 is an autosomal-dominant disorder characterized by muscle weakness, myotonia, and multisystemic involvement. According to current literature fatigue and daytime sleepiness are among the main symptoms of DM1. Oxidative stress has been proposed to be one of the pathogenic factors of fatigue consequent to DM1. In this study, we investigated the dimensions of experienced fatigue and  physiological fatigue in a sample of 26 DM1 patients (17 males, 9 females, mean age 41.6 years, SD±12.7); experienced fatigue has been studied through Fatigue Severity Scale (FSS), and physiological fatigue was measured through an intermittent incremental exercise of the forearm muscles using a myometer; oxidative stress balance markers trend during aerobic exercise test have been collected...
July 1, 2017: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/28710329/open-label-trial-of-ranolazine-for-the-treatment-of-myotonia-congenita
#19
W David Arnold, David Kline, Alan Sanderson, Ahmed A Hawash, Amy Bartlett, Kevin R Novak, Mark M Rich, John T Kissel
OBJECTIVE: To determine open-label, pilot study whether ranolazine could improve signs and symptoms of myotonia and muscle stiffness in patients with myotonia congenita (MC). METHODS: Thirteen participants were assessed at baseline and 2, 4, and 5 weeks. Ranolazine was started after baseline assessment (500 mg twice daily), increased as tolerated after week 2 (1,000 mg twice daily), and maintained until week 4. Outcomes included change from baseline to week 4 in self-reported severity of symptoms (stiffness, weakness, and pain), Timed Up and Go (TUG), hand grip and eyelid myotonia, and myotonia on EMG...
August 15, 2017: Neurology
https://www.readbyqxmd.com/read/28706458/electrophysiological-characteristics-of-r47w-and-a298t-mutations-in-clc-1-of-myotonia-congenita-patients-and-evaluation-of-clinical-features
#20
Hyung Jin Chin, Chan Hyeong Kim, Kotdaji Ha, Jin Hong Shin, Dae-Seong Kim, Insuk So
Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon depolarizing potentials and play a major role in stabilization of resting membrane potentials in skeletal muscle. In this study, we report 4 unrelated Korean patients diagnosed with myotonia congenita and their clinical features...
July 2017: Korean Journal of Physiology & Pharmacology
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