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https://www.readbyqxmd.com/read/28810563/dystrophia-myotonica-type-1-presenting-with-dysarthria-a-case-report-and-literature-review
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28687444/long-term-follow-up-for-patients-with-nonprogressive-epilepsia-partialis-continua-in-a-single-center-in-china
#6
Song Yan, Yan-Chun Deng, Xiao-Li Wang, Meng-Meng Hu, Yong-Hong Liu, Lei Ma
Epilepsia partialis continua (EPC) is a rare variant of epilepsy. Cases from China are rare. We present a case series of seven patients to analyze its clinical features, imagining findings, etiology, drug use, and long-term outcome in a single epilepsy center. We made assessments of drug effects twice (Stage I - when they left our hospital; Stage II in March 2017 - by telephone interviews to rate their long-term outcome). The mean duration of the second follow-up was 4.8years. Of the seven patients, four patients characterized motor and sensory EPC and three motor EPC...
July 4, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28662944/skeletal-muscle-channelopathies-rare-disorders-with-common-pediatric-symptoms
#7
Emma Matthews, Arpana Silwal, Richa Sud, Michael G Hanna, Adnan Y Manzur, Francesco Muntoni, Pinki Munot
OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy...
June 26, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28660733/prospective-measurement-of-quality-of-life-in-myotonic-dystrophy-type-1
#8
S Peric, C Heatwole, E Durovic, A Kacar, A Nikolic, I Basta, A Marjanovic, Z Stevic, D Lavrnic, V Rakocevic Stojanovic
INTRODUCTION: Generic patient reported outcome measures have had varied success in tracking QoL in myotonic dystrophy type 1 (DM1). AIM: To analyze changes of Individualized Neuromuscular Quality of Life questionnaire (INQoL) scores in clinic patients with DM1 over a 6-year period. METHOD: Patients completed the INQoL at baseline and after a 6-year period through their attendance in a neurology outpatient clinic. Severity of muscular involvement in DM1 was analyzed using the Muscular Impairment Rating Scale (MIRS)...
June 28, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28561926/quantitative-sonographic-assessment-of-myotonia
#9
Alon Abraham, Ari Breiner, Carolina Barnett, Vera Bril, Hans D Katzberg
INTRODUCTION: The goal of this study was to explore ultrasound imaging for qualitative and quantitative assessment of myotonia. METHODS: 16 patients with myotonia and 16 controls underwent sonographic evaluation of the thenar eminence muscles to assess the relaxation time after muscle percussion. RESULTS: The mean time for complete muscle relaxation in patients with myotonia was longer than that of controls. A cut-off of >0.9 seconds for myotonia detection had a sensitivity of 88% and a specificity of 100%...
May 31, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28557061/classification-of-involuntary-movements-in-dogs-myoclonus-and-myotonia
#10
REVIEW
M Lowrie, L Garosi
Myoclonus is a sudden brief, involuntary muscle jerk. Of all the movement disorders, myoclonus is the most difficult to encapsulate into any simple framework. On the one hand, a classification system is required that is clinically useful to aid in guiding diagnosis and treatment. On the other hand, there is need for a system that organizes current knowledge regarding biological mechanisms to guide scientific research. These 2 needs are distinct, making it challenging to develop a robust classification system suitable for all purposes...
July 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28552867/an-unusual-case-of-sodium-channel-myotonia-with-transient-weakness-upon-initiating-movements-which-is-characteristic-in-becker-disease
#11
Junpei Yamamoto, Keiichi Hokkoku, Yuki Hatanaka, Shunichi Sakoda, Jun-Hui Yuan M D, Masahiro Sonoo
We reported a 32-year-old man who was a sporadic case of myotonic syndrome with muscle stiffness or transient weakness of limbs upon initiating movements after rest. On examination, he showed painless myotonia with warm-up phenomenon, Hercules-like hypertrophic musculature and myotonic discharges in EMG. The clinical findings resembled to those of Becker disease rather than Thomsen disease. But electrodiagnosis suggested sodium channel myotonia instead of chloride channelopathy. Genetic testing detected a novel missense mutation (p...
May 26, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28550479/biomolecular-diagnosis-of-myotonic-dystrophy-type-2-a-challenging-approach
#12
REVIEW
Giovanni Meola, Fiammetta Biasini, Rea Valaperta, Elena Costa, Rosanna Cardani
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians...
August 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28535287/a-flow-cytometry-based-screen-identifies-mbnl1-modulators-that-rescue-splicing-defects-in-myotonic-dystrophy-type-i
#13
Fan Zhang, Nicole E Bodycombe, Keith M Haskell, Yumei L Sun, Eric T Wang, Carl A Morris, Lyn H Jones, Lauren D Wood, Mathew T Pletcher
Myotonic Dystrophy Type 1 (DM1) is a rare genetic disease caused by expansion of CTG trinucleotide repeats ((CTG)exp) in the 3' untranslated region of the DMPK gene. The repeat transcripts sequester the RNA binding protein Muscleblind-like protein 1 (MBNL1) and hamper its normal function in pre-mRNA splicing. Overexpressing exogenous MBNL1 in the DM1 mouse model has been shown to rescue the splicing defects and reverse myotonia. Although a viable therapeutic strategy, pharmacological modulators of MBNL1 expression have not been identified...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28491317/marathoning-with-myotonic-dystrophy-type-2-proximal-myotonic-myopathy-and-leukopenia
#14
Josef Finsterer, Georg Safoschnik, Martina Witsch-Baumgartner
OBJECTIVES: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. METHODS: Case report. RESULTS: The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 22 years, myotonia spreaded to the entire musculature...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28427807/targeted-next-generation-sequencing-in-patients-with-myotonia-congenita
#15
Valentina Ferradini, Marco Cassone, Sara Nuovo, Ilaria Bagni, Maria Rosaria D'Apice, Annalisa Botta, Giuseppe Novelli, Federica Sangiuolo
INTRODUCTION: Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by muscle stiffness, weakness, delayed skeletal relaxation and hypertrophic muscle. The disease can be inherited as dominant or recessive. More than 130 mutations in CLCN1 gene have been identified. MATERIALS AND METHODS: We analyzed the entire coding region and exon-intron boundaries of the CLCN1 gene in 40 MC patients. Samples already Sanger-sequenced were successively evaluated by Next Generation Sequencing (NGS), on Ion Torrent PGM...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28397002/the-uk-myotonic-dystrophy-patient-registry-facilitating-and-accelerating-clinical-research
#16
Libby Wood, Isabell Cordts, Antonio Atalaia, Chiara Marini-Bettolo, Paul Maddison, Margaret Phillips, Mark Roberts, Mark Rogers, Simon Hammans, Volker Straub, Richard Petty, Richard Orrell, Darren G Monckton, Nikoletta Nikolenko, Aura Cecilia Jimenez-Moreno, Rachel Thompson, David Hilton-Jones, Chris Turner, Hanns Lochmüller
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the rarity and variability of the disease. The UK Myotonic Dystrophy Patient Registry is a patient self-enrolling online database collecting clinical and genetic information. For this cross-sectional "snapshot" analysis, 556 patients with a confirmed diagnosis of DM1 registered between May 2012 and July 2016 were included...
May 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28386229/clc-channels-and-transporters-structure-physiological-functions-and-implications-in-human-chloride-channelopathies
#17
REVIEW
Diogo R Poroca, Ryan M Pelis, Valérie M Chappe
The discovery of ClC proteins at the beginning of the 1990s was important for the development of the Cl(-) transport research field. ClCs form a large family of proteins that mediate voltage-dependent transport of Cl(-) ions across cell membranes. They are expressed in both plasma and intracellular membranes of cells from almost all living organisms. ClC proteins form transmembrane dimers, in which each monomer displays independent ion conductance. Eukaryotic members also possess a large cytoplasmic domain containing two CBS domains, which are involved in transport modulation...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28369378/reduced-cytoplasmic-mbnl1-is-an-early-event-in-a-brain-specific-mouse-model-of-myotonic-dystrophy
#18
Pei-Ying Wang, Yu-Mei Lin, Lee-Hsin Wang, Ting-Yu Kuo, Sin-Jhong Cheng, Guey-Shin Wang
Myotonic dystrophy type 1 (DM1) is caused by an expansion of CTG repeats in the 3' untranslated region (UTR) of the dystrophia myotonia protein kinase (DMPK) gene. Cognitive impairment associated with structural change in the brain is prevalent in DM1. How this histopathological abnormality during disease progression develops remains elusive. Nuclear accumulation of mutant DMPK mRNA containing expanded CUG RNA disrupting the cytoplasmic and nuclear activities of muscleblind-like (MBNL) protein has been implicated in DM1 neural pathogenesis...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28330959/predominantly-myalgic-phenotype-caused-by-the-c-3466g-a-p-a1156t-mutation-in-scn4a-gene
#19
Johanna Palmio, Satu Sandell, Michael G Hanna, Roope Männikkö, Sini Penttilä, Bjarne Udd
OBJECTIVE: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation. METHODS: Twenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the SCN4A gene were extensively examined. In a subsequent study, 63 patients with similar myalgic phenotype and with negative results in myotonic dystrophy type 2 genetic screening (DM2-neg group) and 93 patients diagnosed with fibromyalgia were screened for the mutation. Functional consequences of the p...
April 18, 2017: Neurology
https://www.readbyqxmd.com/read/28325641/spectrum-of-nondystrophic-skeletal-muscle-channelopathies-in-children
#20
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
May 2017: Pediatric Neurology
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