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https://www.readbyqxmd.com/read/28209438/excessive-daytime-sleepiness-in-a-patient-with-coexisting-myotonic-dystrophy-type-1-myasthenia-gravis-and-graves-disease
#1
Katarzyna Kapica-Topczewska, Robert Pogorzelski, Joanna Tarasiuk, Wiesław Drozdowski, Piotr Lewczuk, Alina Kułakowska
A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles...
February 3, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28194519/electromechanical-delays-during-a-fatiguing-exercise-and-recovery-in-patients-with-myotonic-dystrophy-type-1
#2
Fabio Esposito, Emiliano Cè, Susanna Rampichini, Elena Monti, Eloisa Limonta, Barbara Fossati, Giovanni Meola
PURPOSE: The partitioning of the electromechanical delay by an electromyographic (EMG), mechanomyographic (MMG) and force combined approach can provide further insight into the electrochemical and mechanical processes involved with skeletal muscle contraction and relaxation. The aim of the study was to monitor by this combined approach the changes in delays' electrochemical and mechanical components throughout a fatiguing task and during recovery in patients with myotonic dystrophy type 1 (DM1), who present at the skeletal muscle level fibres rearrangement, muscle weakness and myotonia, especially in the distal muscles...
February 14, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28187499/botulinum-toxin-type-a-btx-a-in-the-treatment-of-facial-myotonia-in-schwartz-jampel-syndrome
#3
Igor Dórea Bandeira, João Gabriel Jagersbacher, Thiago Lima Barretto, Camilo Vieira Santos, Rita Lucena
No abstract text is available yet for this article.
February 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28153715/neuromuscular-excitability-changes-produced-by-sustained-voluntary-contraction-and-response-to-mexiletine-in-myotonia-congenita
#4
Federica Ginanneschi, Andrea Mignarri, Sabrina Lucchiari, Gianna Ulzi, Giacomo P Comi, Alessandro Rossi, Maria Teresa Dotti
OBJECTIVE: To investigate the cause of transient weakness in myotonia congenita (MC) and the mechanism of action of mexiletine in reducing weakness. METHODS: The changes in neuromuscular excitability produced by 1min of maximal voluntary contractions (MVC) were measured on the amplitude of compound muscle action potentials (CMAP) in two patients with either recessive or dominant MC, compared to control values obtained in 20 healthy subjects. Measurements were performed again in MC patients after mexiletine therapy...
January 30, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28141569/myotonia-in-a-child-with-muscle-hypertrophy
#5
Vasanthan Tanigasalam
No abstract text is available yet for this article.
January 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28138246/association-of-peripheral-neuropathy-with-sleep-related-breathing-disorders-in-myotonic-dystrophies
#6
Marta Banach, Jakub Antczak, Rafał Rola
BACKGROUND: Myotonic dystrophy (DM) type 1 and type 2 are inherited diseases characterized by myotonia and myopathy. Additional symptoms include, among others, peripheral neuropathy and sleep-related breathing disorders (SRBDs). There is growing evidence for a complex association between DM1 and DM2, which was described in patients with diabetes mellitus and in the general population. In this study, we investigated whether there is an association between peripheral neuropathy and SRBDs also in the population of patients with DM...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28106565/neuromyelitis-optica-in-a-patient-from-family-with-both-myotonic-dystrophy-type%C3%A2-1-and-2
#7
V Rakocevic-Stojanovic, S Peric, I Dujmovic, J Drulovic, J Pesovic, D Savic-Pavicevic
INTRODUCTION: The aim of this study was to present a family co-segregating myotonic dystrophy type 1 (DM1) and 2 (DM2), and one member affected with neuromyelitis optica (NMO). CASE REPORT: Index case underwent cataract surgery at age 39. Although she had no muscle symptoms, genetic testing revealed a DM2 mutation and a DM1 protomutation. The patient noticed difficulties in climbing stairs at age 47. Clinical examination showed mild muscle weakness, calf hypertrophy, mild myotonia and several multisystem signs...
January 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28078562/myotonic-dystrophy-type-2-and-modifier-genes-an-update-on-clinical-and-pathomolecular-aspects
#8
REVIEW
Giovanni Meola, Rosanna Cardani
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. To date, two distinct forms caused by similar mutations in two different genes have been identified: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of function has been suggested to cause the complex phenotype in DM1 and DM2. However, despite clinical and genetic similarities, DM1 and DM2 may be considered as distinct disorders...
January 11, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28067669/targeting-deregulated-ampk-mtorc1-pathways-improves-muscle-function-in-myotonic-dystrophy-type-i
#9
Marielle Brockhoff, Nathalie Rion, Kathrin Chojnowska, Tatiana Wiktorowicz, Christopher Eickhorst, Beat Erne, Stephan Frank, Corrado Angelini, Denis Furling, Markus A Rüegg, Michael Sinnreich, Perrine Castets
Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the 3'-UTR of the dystrophia myotonica protein kinase (DMPK) gene. RNA hairpins formed by elongated DMPK transcripts sequester RNA-binding proteins, leading to mis-splicing of numerous pre-mRNAs. Here, we have investigated whether DM1-associated muscle pathology is related to deregulation of central metabolic pathways, which may identify potential therapeutic targets for the disease...
February 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28040606/steinert-syndrome-and-repercussions-in-dental-medicine
#10
REVIEW
Helena Baptista, Inês Lopes Cardoso
Steinert syndrome, also called myotonic dystrophy type 1, is a genetic disorder with autosomal dominant transmission characterized by myotonia and a multisystemic clinical picture that affects several tissues of the human body. The most common systemic phenotypes are: muscular, cardiac, respiratory, CNS, ocular, gynecological, digestive, orthopedical, as well as cognitive and psychological symptoms (cognitive decline). Muscles involved in voluntary movement are highly affected by myotonia especially distal muscles of upper limbs...
December 23, 2016: Archives of Oral Biology
https://www.readbyqxmd.com/read/28039888/aerobic-training-in-myotonia-congenita-effect-on-myotonia-and-fitness
#11
Grete Andersen, Nicoline Løkken, John Vissing
INTRODUCTION: Exercise has not been investigated in myotonia congenita (MC). We investigated whether regular aerobic training can reduce myotonia and improve fitness. METHODS: Untrained patients with MC (age: 24-62 years, n=6) completed 28±3 sessions of 30-minute cycle ergometer training at 75% of maximal capacity for 11±1 weeks. Fitness was evaluated by maximal oxygen uptake. The level of myotonia was assessed by the Myotonia Behavior Scale, 14 step stair test, timed up and go test, and hand and eye closure-open tests...
December 31, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28024841/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
#12
Marcin Bednarz, Bas C Stunnenberg, Benno Kusters, Erik-Jan Kamsteeg, Christiaan G Saris, James Groome, Vern Winston, Giovanni Meola, Karin Jurkat-Rott, Nicol C Voermans
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 with latent myotonia in another. In-vitro whole cell patch-clamp studies show that the mutation slows inactivation and accelerates recovery, in line with other paramyotonia variants with destabilized fast inactivation as pathomechanism. Additionally, p.IleI1455 causes a loss-of-function by reduced membrane insertion, right-shift of activation, and slowed kinetics...
October 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28012096/a-sodium-channel-myotonia-presenting-with-intermittent-dysphagia-as-a-manifestation-of-a-rare-scn4a-variant
#13
Jihane N Benhammou, Jennifer Phan, Hane Lee, Kevin Ghassemi, William Parsons, Wayne W Grody, Joseph R Pisegna
The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2. This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia.
December 23, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27927941/a-population-based-epidemiologic-study-of-adult-neuromuscular-disease-in-the-republic-of-ireland
#14
Stela Lefter, Orla Hardiman, Aisling M Ryan
OBJECTIVE: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a single country. METHODS: This population-based study was performed in the Republic of Ireland (RoI), with a PR estimated for December 2013. Multiple case ascertainment sources were utilized. Demographic and clinical information and relevant diagnostic results were registered. RESULTS: A total of 2,641 adults were identified, giving a PR of 62...
December 7, 2016: Neurology
https://www.readbyqxmd.com/read/27922499/the-dystrophic-and-nondystrophic-myotonias
#15
Valeria A Sansone
PURPOSE OF REVIEW: This article describes clinical and electrical myotonia and provides an update on the classification, diagnosis, and management of myotonic disorders. RECENT FINDINGS: In the myotonic dystrophies, antisense oligonucleotides provide a general strategy to correct RNA gain of function and modulate the expression of CTG expanded repeats; they are currently being tested in a phase 1-2 randomized controlled trial in patients with adult-onset myotonic dystrophy type 1...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27857801/schwartz-jampel-syndrome-with-gastroduodenal-bleeding
#16
İpek Polat, Pakize Karaoğlu, Uluç Yiş, Semra Hız Kurul
Schwartz-Jampel syndrome is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. The patients with Schwartz-Jampel syndrome have muscle stiffness and electromyography reveals complex, repetitive discharges as myotonic discharges. It is unusual for a Schwartz-Jampel syndrome case to have recurrent gastrointestinal bleeding episodes. The stable endothelial barrier is provided by perlecan which is an important component of vascular structures...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27826760/myotonic-dystrophy-type-1-management-and-therapeutics
#17
REVIEW
Cheryl A Smith, Laurie Gutmann
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27783415/the-anti-convulsants-lacosamide-lamotrigine-and-rufinamide-reduce-myotonia-in-isolated-human-and-rat-skeletal-muscle
#18
Martin Skov, Frank V de Paoli, Ole B Nielsen, Thomas H Pedersen
INTRODUCTION: In myotonia congenita, loss of ClC-1 Cl(-) -channel function results in skeletal muscle hyperexcitability and myotonia. Anti-myotonic treatment has typically targeted the voltage gated sodium channel in skeletal muscle (Nav1.4). This study explored whether 3 sodium channel modulating anti-epileptics can reduce myotonia in isolated rat and human muscle. METHODS: Dissected muscles were rendered myotonic by ClC-1 channel inhibition. The ability of the drugs to suppress myotonia was then assessed from sub-clinical to maximal clinical concentrations...
October 26, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27745526/prevalence-of-neuromuscular-disorders-in-qena-governorate-egypt-population-based-survey
#19
Eman M Khedr, Gharib Fawi, Mohammed Abd-Allah Abbas, Noha Abo El-Fetoh, Ahmed F Zaki, Ayman Gamea, Ghada Al Attar
BACKGROUND: Few epidemiological studies of the prevalence of neuromuscular disorders have been undertaken. The aim of the study was to estimate the prevalence of the most common types of neuromuscular disorders in Qena governorate/Egypt. METHODS: A random sample was taken from 11 districts, involving 9303 inhabitants with 57.3% urban residents and 42.7% rural residence. Patients were diagnosed using a screening questionnaire for the diagnosis of neuromuscular disorders...
December 2016: Neurological Research
https://www.readbyqxmd.com/read/27743929/increased-sodium-channel-use-dependent-inhibition-by-a-new-potent-analogue-of-tocainide-greatly-enhances-in%C3%A2-vivo-antimyotonic-activity
#20
Michela De Bellis, Roberta Carbonara, Julien Roussel, Alessandro Farinato, Ada Massari, Sabata Pierno, Marilena Muraglia, Filomena Corbo, Carlo Franchini, Maria Rosaria Carratù, Annamaria De Luca, Diana Conte Camerino, Jean-François Desaphy
Although the sodium channel blocker, mexiletine, is the first choice drug in myotonia, some myotonic patients remain unsatisfied due to contraindications, lack of tolerability, or incomplete response. More therapeutic options are thus needed for myotonic patients, which require clinical trials based on solid preclinical data. In previous structure-activity relationship studies, we identified two newly-synthesized derivatives of tocainide, To040 and To042, with greatly enhanced potency and use-dependent behavior in inhibiting sodium currents in frog skeletal muscle fibers...
February 2017: Neuropharmacology
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