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Artykuły w czasopismach na temat „Myotonia”

Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 25 lipca 2025

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1

Bretag, Allan H. "Myotonic diseases since Asmus Julius Thomas Thomsen (1815–1896) and Peter Emil Becker (1908–2000)." Proceedings of the Royal Society of Victoria 127, no. 1 (2015): 59. http://dx.doi.org/10.1071/rs15005.

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Julius Thomsen first published his account of myotonia (an unusual muscle stiffness disorder) in himself and his family in 1876. By November 1971, Peter Becker was already famous for his eponymous Becker muscular dystrophy when he came to the Second International Congress on Muscle Diseases, in Perth. There, he presented an extensive study of myotonia, recognising a recessively inherited disease (now known as Becker’s recessive generalised myotonia), distinct from Thomsen’s myotonia congenita and clearly distinguishable from Steinert’s myotonic dystrophy, both dominantly inherited. Peter Becke

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2

Rahimova, N. J., and A. K. Mamedbeyli. "THE NONDYSTROPHIC MYOTONIAS (CLINICAL CASE, DISCUSSION)." National Journal of Neurology 1, no. 09 (2016): 90–97. http://dx.doi.org/10.61788/njn.v1i16.15.

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The article presents the clinical case of congenital myotonia which was newly diagnosed in patients with back pain. It has been discussed the genetics, pathophysiology, clinical features, differential diagnosis and management for myotonic syndrome due to different nondystrophic myotonias.

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3

Finsterer, Josef, Georg Safoschnik, and Martina Witsch-Baumgartner. "Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia." SAGE Open Medical Case Reports 5 (January 1, 2017): 2050313X1770302. http://dx.doi.org/10.1177/2050313x17703021.

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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. Myotonia did not prevent her from doing her job and from marathoning and improved with continuous exercise. Additionally, she had developed hypothyroi

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4

Fanning, Lorna, and Mary MacDermott. "Effect of Temperature Reduction on Myotonia in Rat Skeletal Muscles in vitro." Clinical Science 92, no. 6 (1997): 587–92. http://dx.doi.org/10.1042/cs0920587.

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1. The objective of the study was to determine the effect of temperature reduction on the response of rat skeletal muscles to myotonia-inducing agents. 2. A model myotonia was induced in the muscles in vitro, using either the chloride channel blocker anthracene-9-carboxylic acid or chloride-free Krebs solution. This model is similar in its characteristics to the myotonia which occurs in autosomal recessive generalized myotonia congenita in humans. 3. Isometric twitch contractions were recorded in the muscles in Krebs solution before and after the addition of the myotonia-inducing agent. The pr

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5

Magnussen, Marcus, Ioannis Karakis, and Taylor B. Harrison. "The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis." Case Reports in Neurological Medicine 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/242691.

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Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies. Yet, electrical myotonia in myasthenia gravis associated with antibodies against muscle-specific tyrosine kinase (MuSK) has not been previously reported. We describe two such patients, both of whom had a typical presentation of proximal muscle weakness with respiratory failure in the context of a significant electrodecrement in repetitive nerve stimulation. In both cases, concentric needle examination revealed

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6

Ricker, K. "The expanding clinical and genetic spectrum of the myotonic dystrophies." Neurology Bulletin XXXIII, no. 1-2 (2001): 115–16. http://dx.doi.org/10.17816/nb79796.

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Carter, Gregory T., Michael D. Weiss, and Thomas D. Bird. "Myotonic disorder without myotonia?" Muscle & Nerve 40, no. 6 (2009): 1071–72. http://dx.doi.org/10.1002/mus.21418.

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8

Лихачев, С. А., А. В. Астапенко, И. П. Марьенко, Т. В. Корбут, and Е. С. Степанова. "Dystrophic Myotonia of Rossolimo – Steinert – Kurshman, Sporadic Case. Clinical Observation." Неврология и нейрохирургия. Восточная Европа, no. 1 (April 29, 2020): 120–26. http://dx.doi.org/10.34883/pi.2020.10.1.050.

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Дистрофическая миотония это генетически детерминированное нервно-мышечное заболевание, относящееся к каналопатиям (заболеваниям, связанным с патологией ионных каналов мембран скелетных мышечных волокон). Классическими признаками миотонии являются миотонические феномены, характеризующиеся замедленным расслаблением скелетных мышц после произвольного сокращения или электрической стимуляции и миотоническими разрядами, выявляемые при клиническом обследовании и игольчатой электромиографии соответственно. Типичным представителем является миотоническая дистрофия (или дистрофическая миотония), описанна

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9

Bandschapp, Oliver, Hans F. Ginz, Charles L. Soule, Thierry Girard, Albert Urwyler, and Paul A. Iaizzo. "In Vitro Effects of Propofol and Volatile Agents on Pharmacologically Induced Chloride Channel Myotonia." Anesthesiology 111, no. 3 (2009): 584–90. http://dx.doi.org/10.1097/aln.0b013e3181b05f23.

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Background Anesthetic choice for patients with chloride channel myotonia remains under debate. The authors have, therefore, investigated the in vitro effects of various anesthetic agents on pharmacologically induced chloride channel myotonia. Methods Functionally viable (&gt; 10 mN force generation) rectus abdominis muscle preparations obtained from normal swine were investigated using in vitro muscle contracture test baths. During continuous 0.1-Hz supramaximal electrical stimulation, the chloride channel blocker 9-anthracenecarboxylic acid (64 microM) was added before the addition of pro

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10

Yadava, Ramesh S., Qing Yu, Mahua Mandal, Frank Rigo, C. Frank Bennett, and Mani S. Mahadevan. "Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3′UTR RNA." Human Molecular Genetics 29, no. 9 (2020): 1440–53. http://dx.doi.org/10.1093/hmg/ddaa060.

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Abstract Myotonic dystrophy type 1 (DM1), the most common adult muscular dystrophy, is an autosomal dominant disorder caused by an expansion of a (CTG)n tract within the 3′ untranslated region (3′UTR) of the dystrophia myotonica protein kinase (DMPK) gene. Mutant DMPK mRNAs are toxic, present in nuclear RNA foci and correlated with a plethora of RNA splicing defects. Cardinal features of DM1 are myotonia and cardiac conduction abnormalities. Using transgenic mice, we have demonstrated that expression of the mutant DMPK 3′UTR is sufficient to elicit these features of DM1. Here, using these mice

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11

Karras, Georgios, Evangelia Nikouli, and Bulent Kiamiloglou. "Laparoscopic cholecystectomy under total intravenous anaesthesia in a patient with myotonic dystrophy type 1 (Steinert’s disease) – a case report." Folia Medica 64, no. 2 (2022): 333–36. http://dx.doi.org/10.3897/folmed.64.e59905.

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Myotonic dystrophy type 1 or Steinert’s disease is an autosomal dominant multisystem disease which is characterized by consistent contracture of muscle following stimulation (myotonia). Hypothermia, shivering, mechanical or electric stimulation during surgery can precipitate episodes of myotonia which may complicate the course of anaesthesia. The present case report focuses on successful strategies for providing general anaesthesia for laparoscopic cholecystectomy in a patient affected by this genetic disorder, at a hospital which does not have the facility for postoperative ventilation.

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12

Chen, Annie V., Rodney S. Bagley, and Patricia A. Talcott. "Confirmed 2,4-Dichlorophenoxyacetic Acid Toxicosis in a Dog." Journal of the American Animal Hospital Association 46, no. 1 (2010): 43–47. http://dx.doi.org/10.5326/0460043.

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A 2-year-old, intact male Weimaraner was evaluated for episodic extensor rigidity and a stiff gait of 24 hours’ duration. Percussion of the proximal appendicular muscles with a reflex hammer resulted in formation of dimples consistent with myotonia. Electromyography identified myotonic potentials. Residues of 2,4-dichlorophenoxyacetic acid (2,4-D) were detected in both serum and urine. The dog was treated with intravenous fluid therapy for 36 hours, and clinical signs improved dramatically. Toxicosis with 2,4-D should be considered a differential for acquired myotonia in dogs with or without s

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13

Jose, A. Rey, Pham Huy, Blue Lauren, and Liriano Carolina. "A Case of Myotonia Congenita and Schizophrenia: Difficulties in Treatment with Antipsychotics due to Hypersensitivity to Extrapyramidal Symptoms." International Journal of Psychiatry and Mental Health 1, no. 1 (2019): 38–43. https://doi.org/10.36811/ijpmh.2019.110006.

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Myotonia congenita is a rare non-dystrophic skeletal muscle disease characterized by an inability to relax skeletal muscles after abrupt voluntary movements. Patients with this condition have stiff muscles and difficulty with mobility, especially when initiating movement after periods of rest. It is well known that movement disorders are a common side effect of antipsychotics due to their ability to antagonize dopamine 2 receptors in the extrapyramidal part of the basal ganglia. The purpose of this case is to describe the effects antipsychotics had on a 59-year-old Caucasian male with comorbid

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14

Nikitin, S. S., V. N. Grigoryeva, K. A. Mashkovich, O. L. Mironovich, N. V. Ryadninskaya, and A. V. Polyakov. "Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report." Neuromuscular Diseases 9, no. 4 (2020): 51–56. http://dx.doi.org/10.17650/2222-8721-2019-9-4-51-56.

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A clinical description of a 28-year-old man with spinal and bulbar muscular atrophy diagnosed on the basis of the CAG-trinucleotide expansion in the gene coding androgen receptor is presented. He exhibited skeletal muscles and tongue fasciculations, gynecomastia, increased serum testosterone and creatine kinase levels. The peculiarities of the case were the gynecomastia under the age of 7, development of fasciculations at the age of 11 and appearance of hard muscle stiffness with delayed muscle relaxation after voluntary contraction at the age of 15, which resembled typical myotonia. Electromy

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15

Unni, Jiji V., Deepak Daryani, M. P. Uthkal, and Shabil Mohamed Mustafa. "An Unusual Case of Hybrid Odontogenic Tumor in Type 1 Myotonic Dystrophy Patient." International Journal of Applied & Basic Medical Research 13, no. 4 (2023): 255–58. http://dx.doi.org/10.4103/ijabmr.ijabmr_208_23.

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Abstract Myotonic dystrophy, also referred myotonic muscular dystrophy, is an autosomal dominant, slowly progressive, multisystem disease characterized by skeletal muscle weakness, wasting, and myotonia. A hybrid tumor of odontogenic apparatus is a lesion showing combined histopathological characteristics of two or more previously recognized odontogenic tumors and/or cysts of different categories. We, therefore, report a case of hybrid tumor (adenomatoid odontogenic tumor associated with calcifying cystic odontogenic tumor) in a myotonic dystrophic patient.

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16

Cannon, S. C., and D. P. Corey. "Loss of Na+ channel inactivation by anemone toxin (ATX II) mimics the myotonic state in hyperkalaemic periodic paralysis." Journal of Physiology 466, no. 1 (1993): 501–20. http://dx.doi.org/10.1113/jphysiol.1993.sp019731.

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1. Mutations that impair inactivation of the sodium channel in skeletal muscle have recently been postulated to cause several heritable forms of myotonia in man. A peptide toxin from Anemonia sulcata (ATX II) selectively disrupts the inactivation mechanism of sodium channels in a way that mimics these mutations. We applied ATX II to rat skeletal muscle to test the hypothesis that myotonia is inducible by altered sodium channel function. 2. Single‐channel sodium currents were measured in blebs of surface membrane that arose from the mechanically disrupted fibres. ATX II impaired inactivation as

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17

Reifer, H., and E. Sobel. "Contrasts in clinical presentation and genetic transmission of myotonic dystrophy." Journal of the American Podiatric Medical Association 88, no. 7 (1998): 313–22. http://dx.doi.org/10.7547/87507315-88-7-313.

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Myotonic dystrophy, the most common inherited neuromuscular disease, is an autosomal dominant muscular dystrophy characterized by myotonia and distal muscle weakness. It is caused by an increase in the number of cytosine-thymine-guanine (CTG) nucleotide repeats present on the long arm of chromosome 19. Two patients were evaluated, one with classic adult-onset myotonic dystrophy and the other with congenital myotonic dystrophy. Contrasts in the clinical features and genetic transmission of this disease and clinical management are reviewed.

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18

Kinney, Michelle A. O., and Barry A. Harrison. "Propofol-Induced Myotonia in Myotonic Dystrophy." Anesthesia & Analgesia 83, no. 3 (1996): 665–66. http://dx.doi.org/10.1097/00000539-199609000-00067.

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Kinney, Michelle A. O., and Barry A. Harrison. "Propofol-Induced Myotonia in Myotonic Dystrophy." Anesthesia & Analgesia 83, no. 3 (1996): 665–66. http://dx.doi.org/10.1213/00000539-199609000-00067.

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Child, John S., and Joseph K. Perloff. "Myocardial myotonia in myotonic muscular dystrophy." American Heart Journal 129, no. 5 (1995): 982–90. http://dx.doi.org/10.1016/0002-8703(95)90120-5.

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Milone, Margherita, and Jasper R. Daube. "Reply to: Myotonic disorder without myotonia?" Muscle & Nerve 40, no. 6 (2009): 1073. http://dx.doi.org/10.1002/mus.21416.

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22

Chu, Kon, Jin-Whan Cho, Eun-Chol Song, and Beom S. Jeon. "A Patient with Proximal Myotonic Myopathy and Parkinsonism." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 29, no. 2 (2002): 188–90. http://dx.doi.org/10.1017/s0317167100121006.

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Abstract:Introduction:There are two case reports of patients who had proximal myotonic myopathy (PROMM) / myotonic dystrophy (DM) Type 1 and parkinsonism. The combination of myotonic myopathy and parkinsonism is so rare that it may appear to be just a coincidence. However, previous neuropathological examinations of patients who had myotonic dystrophy showed that there were intracytoplasmic inclusion bodies in the nigra and striatum, which raises the possibility that myotonic myopathy may be associated with parkinsonism. In this report we describe a patient with PROMM and a clinically definite

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23

Kronlage, Cornelius, Alexander Grimm, Alyssa Romano, et al. "Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia." Diagnostics 11, no. 2 (2021): 163. http://dx.doi.org/10.3390/diagnostics11020163.

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Myotonia, i.e., delayed muscle relaxation in certain hereditary muscle disorders, can be assessed quantitatively using different techniques ranging from force measurements to electrodiagnostics. Ultrasound shear wave elastography (SWE) has been proposed as a novel tool in biomechanics and neuromuscular medicine for the non-invasive estimation of muscle elasticity and, indirectly, muscle force. The aim of this study is to provide ‘proof-of-principle’ that SWE allows a quantitative measurement of the duration of delayed muscle relaxation in myotonia in a simple clinical setting. In six myotonic

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24

Fomina-Chertousova, N. A., A. M. Ashibokova, and E. S. Pivacheva. "Myotonic dystrophy type 2: theories of pathogenesis and clinical diagnostic criteria (description of two clinical cases)." South Russian Journal of Therapeutic Practice 6, no. 2 (2025): 93–100. https://doi.org/10.21886/2712-8156-2025-6-2-93-100.

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Myotonic dystrophy type 2 is an autosomal dominant neuromuscular disease characterised by slowly progressive muscle weakness and difficulty in muscle relaxation after contraction (myotonia). The disease has a significant impact on the psychological well-being, economic status and overall quality of life of patients. Two clinical cases of myotonic dystrophy type 2 are considered. It is noted that myalgia is the main symptom reducing the quality of life.

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25

Lueck, John D., Ami Mankodi, Maurice S. Swanson, Charles A. Thornton, and Robert T. Dirksen. "Muscle Chloride Channel Dysfunction in Two Mouse Models of Myotonic Dystrophy." Journal of General Physiology 129, no. 1 (2006): 79–94. http://dx.doi.org/10.1085/jgp.200609635.

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Muscle degeneration and myotonia are clinical hallmarks of myotonic dystrophy type 1 (DM1), a multisystemic disorder caused by a CTG repeat expansion in the 3′ untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Transgenic mice engineered to express mRNA with expanded (CUG)250 repeats (HSALR mice) exhibit prominent myotonia and altered splicing of muscle chloride channel gene (Clcn1) transcripts. We used whole-cell patch clamp recordings and nonstationary noise analysis to compare and biophysically characterize the magnitude, kinetics, voltage dependence, and single chann

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26

Yamashita, Yuri, Satoshi Nakada, Kyoko Nakamura, et al. "Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz–Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles." Biomedicines 11, no. 3 (2023): 814. http://dx.doi.org/10.3390/biomedicines11030814.

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Schwartz–Jampel syndrome (SJS) is an autosomal recessive disorder caused by loss-of-function mutations in heparan sulfate proteoglycan 2 (HSPG2), which encodes the core basement membrane protein perlecan. Myotonia is a major criterion for the diagnosis of SJS; however, its evaluation is based solely on physical examination and can be challenging in neonates and young children. Furthermore, the pathomechanism underlying SJS-related myotonia is not fully understood, and effective treatments for SJS are limited. Here, we established a cellular model of SJS using patient-derived human-induced plur

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27

Palmio, Johanna, Satu Sandell, Michael G. Hanna, Roope Männikkö, Sini Penttilä, and Bjarne Udd. "Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene." Neurology 88, no. 16 (2017): 1520–27. http://dx.doi.org/10.1212/wnl.0000000000003846.

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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.A1156T mutation were studied in HEK293 cells with whole-cell patch clamp.Results:The main clinical manif

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Beech, J., J. E. Fletcher, F. Lizzo, and J. Johnston. "Effect of phenytoin on the clinical signs and in vitro muscle twitch characteristics in horses with chronic intermittent rhabdomyolysis and myotonia." American Journal of Veterinary Research 49, no. 12 (1988): 2130–33. https://doi.org/10.2460/ajvr.1988.49.12.2130.

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SUMMARY In vitro twitch characteristics of the semimembranosus muscle were evaluated in 9 clinically normal horses, in 15 horses with chronic intermittent rhabdomyolysis (cir) and in 2 horses with myotonia. Effects of phenytoin on in vitro muscle twitch and clinical signs of cie and myotonia were evaluated in these same horses. Times to 90% relaxation were prolonged in the horses with cir (mean ± sem, 186 ± 5.9 ms) and in 2 horses with myotonia (197 and 177 ms) compared with those in clinically normal horses (mean ± sem, 146 ±2.1 ms). Horses with cir also had significantly (P < 0.05) longer

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Sander, H. W., G. P. Tavoulareas, and S. Chokroverty. "Heat-sensitive myotonia in proximal myotonic myopathy." Neurology 47, no. 4 (1996): 956–62. http://dx.doi.org/10.1212/wnl.47.4.956.

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Morton, Adam. "Myotonic disorders and pregnancy." Obstetric Medicine 13, no. 1 (2019): 14–19. http://dx.doi.org/10.1177/1753495x18824238.

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Myotonic disorders represent significant risk in pregnancy due to their complexity and the risk of maternal and fetal complications. Care of these pregnancies requires detailed pre-conception counselling, close monitoring of mother and fetus during the pregnancy and a delivery and postpartum plan involving a multidisciplinary team approach. A case of a woman with myotonia congenita diagnosed in pregnancy is presented, the general principles of care of women with myotonic disorders discussed, and care of the specific conditions in pregnancy reviewed. Trial registration: Not applicable.

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Longman, C. "Myotonic dystrophy." Journal of the Royal College of Physicians of Edinburgh 36, no. 1 (2006): 51–55. https://doi.org/10.1177/1478271520063601015.

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Myotonic dystrophy is the most common form of muscular dystrophy in adults, with a prevalence of 1 in 8,000. It is a slowly progressive, multi-system disorder that affects skeletal muscles, the heart, gastrointestinal smooth muscle, uterine smooth muscle, the eyes, and the endocrine and central nervous systems. Myotonic dystrophy is almost always caused by an autosomal dominant gene mutation in the DMPK gene located on chromosome 19. The gene mutation is an expansion in the length of a three base-pair (triplet) repeat sequence (cytosine–thymine–guanine, or CTG) above the normal upper limit of

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Zhang, Yan, and XiongJie Yang. "Clinical Analysis of Two Cases of Myotonic Dystrophy Patients Treated with Chinese Medicine." Journal of Contemporary Medical Practice 7, no. 1 (2025): 225–28. https://doi.org/10.53469/jcmp.2025.07(01).41.

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Myotonic dystrophy (DM) is a group of multi-systemic autosomal dominant genetic disorders characterized by muscle weakness, myotonia, and muscle atrophy. This study clinically analyzed two patients with myotonic dystrophy, both diagnosed with “Wei” disease in traditional Chinese medicine (TCM), with syndromes of liver-kidney deficiency and spleen-stomach weakness, respectively. The treatment methods included moxibustion, acupuncture at specific points, and a combination of TCM decoctions with modifications. After treatment, the patients showed improvement in their symptoms. This study provides

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Kitsis, Elizabeth A., Fabreena Napier, Viral Juthani, and Howard L. Geyer. "Association of Sjögren’s syndrome with myotonic dystrophy type 1." BMJ Case Reports 12, no. 8 (2019): e229611. http://dx.doi.org/10.1136/bcr-2019-229611.

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A 47-year-old woman presented with sicca symptoms, polyarthralgias, polymyalgias and dysphagia. She was found to have positive antinuclear, anti-SSA-Ro and anti-SSB-La antibodies. Slit lamp exam confirmed the presence of keratoconjunctivitis sicca, and the patient was diagnosed with Sjögren’s syndrome. Three years later, she was referred for evaluation of gait instability associated with recent falls. On physical examination, the patient was found to have bilateral ptosis, percussion myotonia, distal upper and lower extremity weakness, and a steppage gait. Electromyography demonstrated electri

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Schneider-Gold, Christiane, Benedikt Schoser, Gisa Ellrichmann, Stefan Quasthoff, Frank Lehmann-Horn, and Michael Sinnreich. "Myotone Dystrophien, nicht dystrophe Myotonien und periodische Paralysen." Aktuelle Neurologie 45, no. 03 (2018): 167–77. http://dx.doi.org/10.1055/s-0043-125352.

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ZusammenfassungIn der Behandlung der myotonen Dystrophien, nicht dystrophen Myotonien und periodischen Paralysen haben sich in den letzten Jahren einige neue Aspekte ergeben, die in der aktualisierten Leitlinie zu myotonen Dystrophien, nicht dystrophen Myotonien und periodischen Paralysen zusammenfassend dargestellt sind.Nach wie vor besteht eine europaweit nur sehr eingeschränkte Verfügbarkeit von Mexiletin, welches in Deutschland nur noch über die Auslandsapotheke aus z. B. Japan, den USA oder Kanada in einer Dosierung von 100 mg oder 200 mg bezogen werden kann, wenngleich die Wirksamkeit vo

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Ketley, Ami, Marzena Wojciechowska, Sonja Ghidelli-Disse, et al. "CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model." Science Translational Medicine 12, no. 541 (2020): eaaz2415. http://dx.doi.org/10.1126/scitranslmed.aaz2415.

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Myotonic dystrophy type 1 (DM1) is an RNA-based disease with no current treatment. It is caused by a transcribed CTG repeat expansion within the 3′ untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Mutant repeat expansion transcripts remain in the nuclei of patients’ cells, forming distinct microscopically detectable foci that contribute substantially to the pathophysiology of the condition. Here, we report small-molecule inhibitors that remove nuclear foci and have beneficial effects in the HSALR mouse model, reducing transgene expression, leading to improvements in

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Bell, E., A. R. Lorimer, and J. Hinnie. "Association between Myotonic Dystrophy and Primary Hyperparathyroidism." Journal of International Medical Research 22, no. 5 (1994): 296–98. http://dx.doi.org/10.1177/030006059402200508.

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A case of primary hyperparathyroidism in a patient with myotonic dystrophy is reported. A 56-year old female with myotonic dystrophy, admitted to hospital with a urinary tract infection, had widespread muscle atrophy and myotonia with bilateral cataracts. Biochemical findings of normal renal function but raised blood calcium, depressed blood phosphate and increased parathyroid hormone, were consistent with a diagnosis of primary hyperparathyroidism. Thallium scanning of the parathyroids showed an area of discordant thallium suggesting a parathyroid adenoma. When the left lower parathyroid was

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Vita, Gary M., Antonel Olckers, Anne E. Jedlicka та ін. "Masseter Muscle Rigidity Associated with Glycine1306-to- Alanine Mutation in the Adult Muscle Sodium Channel α-Subunit Gene". Anesthesiology 82, № 5 (1995): 1097–103. http://dx.doi.org/10.1097/00000542-199505000-00002.

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Background Succinylcholine-induced masseter muscle rigidity (MMR) is a potentially life-threatening complication of anesthesia and is closely correlated with the heterogeneous disorder malignant hyperthermia (MH) susceptibility. MMR also is identified with a variety of neuromuscular disorders, including the myotonias, that are associated with abnormal in vitro contracture test (IVCT) results. Recently, mutations in the adult skeletal muscle sodium channel alpha-subunit gene (SCN4A) have been shown to cause generalized nondystrophic myotonias, some of which are associated with mild nonspecific

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Sugino, M., N. Ohsawa, T. Ito, et al. "A pilot study of dehydroepiandrosterone sulfate in myotonic dystrophy." Neurology 51, no. 2 (1998): 586–89. http://dx.doi.org/10.1212/wnl.51.2.586.

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We studied the effect of IV administration of a dehydroepiandrosterone sulfate (DHEAS) preparation (200 mg/day for 8 weeks) in 11 patients with myotonic dystrophy (MyD). After DHEAS, activities of daily living improved, muscle strength increased, and myotonia decreased. Conduction block and premature beats also improved in the four patients with cardiac involvement. This pilot study may provide a rationale for a controlled study of DHEAS in MyD.

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Mankodi, Ami, and Christopher Grunseich. "Toe-extension myotonia in myotonic dystrophy type 1." Neurology 85, no. 2 (2015): 203. http://dx.doi.org/10.1212/wnl.0000000000001734.

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Rimmer, Karen P., Sandra D. Golar, M. A. Lee, and William A. Whitelaw. "Myotonia of the Respiratory Muscles in Myotonic Dystrophy." American Review of Respiratory Disease 148, no. 4_pt_1 (1993): 1018–22. http://dx.doi.org/10.1164/ajrccm/148.4_pt_1.1018.

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Conravey, Allison, and Lenay Santana-Gould. "Myotonia Congenita and Myotonic Dystrophy: Surveillance and Management." Current Treatment Options in Neurology 12, no. 1 (2010): 16–28. http://dx.doi.org/10.1007/s11940-009-0055-z.

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Reed, Stephen M., Gerald A. Hegreberg, Warwick M. Bayly, Christopher M. Brown, Mary R. Paradis, and Roger M. Clemmons. "Progressive myotonia in foals resembling human dystrophia myotonica." Muscle & Nerve 11, no. 4 (1988): 291–96. http://dx.doi.org/10.1002/mus.880110403.

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Papadimas, Georgios K., Constantinos Papadopoulos, Kyriaki Kekou, et al. "A Greek National Cross-Sectional Study on Myotonic Dystrophies." International Journal of Molecular Sciences 23, no. 24 (2022): 15507. http://dx.doi.org/10.3390/ijms232415507.

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Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited myopathies with a high prevalence across different ethnic regions. Despite some differences, mainly due to the pattern of muscle involvement and the age of onset, both forms, DM1 and DM2, share many clinical and genetic similarities. In this study, we retrospectively analyzed the medical record files of 561 Greek patients, 434 with DM1 and 127 with DM2 diagnosed in two large academic centers between 1994–2020. The mean age at onset of symptoms was 26.2 ± 15.3 years in DM1 versus 44.4 ± 17.0 years in DM2 patients, w

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Pfeilsticker, Beatriz Helena Miranda, Carmen Sílvia Bertuzzo, and Anamarli Nucci. "Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion." Arquivos de Neuro-Psiquiatria 59, no. 2A (2001): 186–91. http://dx.doi.org/10.1590/s0004-282x2001000200006.

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In myotonic dystrophy (MD), disease severity has been correlated with expansion of CTG repeats in chromosome 19. The aims of this study were to evaluate efficacy of electromyography in the diagnosis of MD, access the frequency and the characteristics of peripheral involvement in the disease and to verify whether the CTG repeats correlated with the electrophysiological abnormalities. Twenty-five patients and six relatives at risk of carrying the MD gene were examined. Electrical myotonia (EM) was scored. Sensory and motor conduction velocity (CV) were studied in five nerves. Leukocyte DNA analy

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Montagnese, Federica, and Benedikt Schoser. "Dystrophische und nicht-dystrophische Myotonien." Fortschritte der Neurologie · Psychiatrie 86, no. 09 (2018): 575–83. http://dx.doi.org/10.1055/a-0635-8285.

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ZusammenfassungMyotone Syndrome sind seltene Erkrankungen der Skelettmuskulatur die mit einer klinischen und elektrischen Myotonie einhergehen. Die genetischen Defekte betreffen primär oder sekundär muskuläre Ionenkanäle und führen zu einer Übererregbarkeit der muskulären Membran. Zu den dystrophischen Myotonien gehören die myotone Dystrophie Typ 1 (DM1) und die myotone Dystrophie Typ 2 (DM2). Es handelt sich bei beiden um multisystemische Erkrankungen, bei denen neben der Myotonie und dystrophischen Veränderungen der Muskulatur (z. B. Muskelatrophie, Muskelschwäche) auch eine Beteiligung vers

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Romigi, A., M. Albanese, C. Liguori, F. Placidi, M. G. Marciani, and R. Massa. "Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic Dystrophies." Journal of Neurodegenerative Diseases 2013 (November 4, 2013): 1–13. http://dx.doi.org/10.1155/2013/692026.

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Myotonic dystrophy is the most common type of muscular dystrophy in adults and is characterized by progressive myopathy, myotonia, and multiorgan involvement. Two genetically distinct entities have been identified, myotonic dystrophy type 1 (DM1 or Steinert’s Disease) and myotonic dystrophy type 2 (DM2). Myotonic dystrophies are strongly associated with sleep dysfunction. Sleep disturbances in DM1 are common and include sleep-disordered breathing (SDB), periodic limb movements (PLMS), central hypersomnia, and REM sleep dysregulation (high REM density and narcoleptic-like phenotype). Interestin

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Barchi, Robert L. "Myotonia." Neurologic Clinics 6, no. 3 (1988): 473–84. http://dx.doi.org/10.1016/s0733-8619(18)30855-7.

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Vlodavets, D., M. Shkolnikova, V. Bereznitskaya, et al. "MYOTONIA." Neuromuscular Disorders 29 (October 2019): S69. http://dx.doi.org/10.1016/j.nmd.2019.06.126.

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Reed, Umbertina C., Suely K. Nagahashi Marie, Mario Wilson I. Brotto, et al. "Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos." Arquivos de Neuro-Psiquiatria 53, no. 1 (1995): 114–17. http://dx.doi.org/10.1590/s0004-282x1995000100017.

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We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the clinical aspects of the atypical form presented by our patient, the efficacy of the more available drugs employed for the treatment of myotonia congenita is briefly discussed .

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Benstead, Timothy J., Peter R. Camfield, and David B. King. "Treatment of Paramyotonia Congenita with Acetazolamide." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 14, no. 2 (1987): 156–58. http://dx.doi.org/10.1017/s0317167100026305.

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Abstract:Treatment of paramyotonia congenita with acetazolamide has been shown to reduce myotonic symptoms but severe weakness has developed in some patients leading to a recommendation not to use the drug in this disorder. We studied a patient with the characteristic clinical and electrophysiological profile of paramyotonia congenita. Myotonia was effectively treated with a very low dose of acetazolamide and no weakness developed. We conclude that acetazolamide can be a safe and effective medication in paramyotonia congenita.

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