Готові списки джерел за темами / Myotonia; Muscle

Добірка наукової літератури з теми "Myotonia; Muscle"

Автор: Grafiati
Опубліковано: 10 грудня 2022
Оновлено: 28 січня 2023

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Статті в журналах з теми "Myotonia; Muscle"

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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Анотація:
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 Becker, Shirley Bryant, Reinhardt Rüdel and Allan Bretag all met in Perth, with mutual interests in myotonia. They subsequently maintained contact while Bretag undertook research in Germany in 1972–1973 and 1977. Later, in 1978, Bretag worked with Bryant’s myotonic goats in Cincinnati. His research on Thomsen’s and Becker’s myotonias has since progressed to confirmation of Bryant’s chloride hypothesis through a molecular genetic study of the muscle chloride channel, CLC -1. This has culminated in several collaborative papers with German colleagues and, finally, in a mechanistic description of how the CLC -1 channel is gated.
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2

Fanning, Lorna, and Mary MacDermott. "Effect of Temperature Reduction on Myotonia in Rat Skeletal Muscles in vitro." Clinical Science 92, no. 6 (June 1, 1997): 587–92. http://dx.doi.org/10.1042/cs0920587.

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Анотація:
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 presence of myotonia was confirmed when the half-relaxation time of the twitch contraction after the addition of the agent was significantly greater than that before its addition. 4. Recordings were made at 37°C, 30°C, 25°C and 15°C. Myotonia developed at 37°C, 30°C and 25°C, but not at 15°C, indicating that at a temperature between 25°C and 15°C, anthracene-9-carboxylic acid-induced myotonia failed to develop. This supports the results obtained in humans suffering from myotonia congenita where myotonic contractions in the adductor pollicis muscle disappeared when the muscle temperature was cooled to 20°C. 5. The myotonia which developed at 37°C could be significantly reduced by exposure to 1 × 10−4 mol/l ouabain or by elevation of the K+ concentration of the Krebs solution to 7.5 mmol/l. 6. Measurements made using microelectrodes showed that the conditions under which myotonia either did not develop or was significantly reduced, i.e. a temperature of 15°C, exposure to 7.5 mmol/l K+ at 37°C or exposure to 1 × 10−4 mol/l ouabain at 37°C, were each associated with membrane depolarization. The results are discussed in terms of a possible role for depolarization in preventing/reducing the myotonic response.
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3

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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Анотація:
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), описанная в начале прошлого века несколькими авторами и получившая название болезни Россолимо Штейнерта Куршмана. Данная нозологическая единица является самым распространенным заболеванием из разряда миотоний и самой частой формой мышечной дистрофии у взрослых людей. Миотония может вовлекать все группы мышц. Однако характер поражения мышц может варьировать в зависимости от конкретного заболевания. В статье описаны этиология, патогенез, формы, диагностика и основные принципы лечения. Описан клинический случай. Dystrophic myotonia is a genetically determined neuromuscular disease related to canalopathies (diseases associated with the pathology of the ion channels of the skeletal muscle fiber membranes). Classic signs of myotonia are myotonic phenomena characterized by delayed relaxation of skeletal muscles after arbitrary contraction or electrical stimulation and myotonic discharges detected during clinical examination and needle electromyography, respectively. A typical representative is myotonic dystrophy (or dystrophic myotonia), described at the beginning of the last century by several authors and called Rossolimo-Steinert-Kurschmann disease. This nosological unit is the most common disease of the category of myotonia and the most common form of muscular dystrophy in adults. Myotonia can involve all muscle groups. However, the nature of muscle damage may vary depending on the specific disease. The article describes the etiology, pathogenesis, forms, diagnosis, and basic principles of treatment. A clinical case is described.
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4

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 (January 10, 2020): 51–56. http://dx.doi.org/10.17650/2222-8721-2019-9-4-51-56.

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Анотація:
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. Electromyography showed few signs of mild without myotonic discharge, contrasting with giant motor unit potentials and reduced recruitment. The cause of myotonia-like symptom without myotonic discharge as a feature of skeletal muscles disorder is discussed with the modern view of spinal and bulbar muscular atrophy as a multisystem genetic pathology.
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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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Анотація:
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 electrical myotonia combined with myopathic motor unit morphology and early recruitment. These findings suggest that MuSK myasthenia should be included within the differential diagnosis of disorders with electrical myotonia.
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6

Ricker, K. "The expanding clinical and genetic spectrum of the myotonic dystrophies." Neurology Bulletin XXXIII, no. 1-2 (May 15, 2001): 115–16. http://dx.doi.org/10.17816/nb79796.

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7

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 (September 1, 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 (> 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 propofol or one of three volatile anesthetics. The concentration of propofol in either Intralipid (n = 11) or dimethyl sulfoxide (n = 10) was doubled every 10 min (from 4-512 microM). The concentration of halothane (n = 8), isoflurane (n = 8), and sevoflurane (n = 8) was doubled from 0.25 vol% up to the maximum dose according to calibrated vaporizers. Control muscle bundles were either untreated (n = 30) or exposed to 9-anthracenecarboxylic acid (n = 19). Results The myotonic reactions induced by 9-anthracenecarboxylic acid were reversed by high-dose (> 64 microM) propofol (P < 0.01). Halothane, isoflurane, or sevoflurane each enhanced the myotonic reactions at 5.4 (P < 0.001), 0.21 (P < 0.01), and 0.5 minimum alveolar concentrations (P < 0.05), respectively. Conclusions The authors' in vitro data imply that propofol administration for general anesthesia may be better suited for patients with chloride channel myotonia versus volatile anesthetics. In isolated swine skeletal muscle bundles, propofol elicited a reversal of 9-anthracenecarboxylic acid-induced chloride channel myotonia, whereas volatile anesthetics further increased the associated myotonic reactions.
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8

Kronlage, Cornelius, Alexander Grimm, Alyssa Romano, Jan-Hendrik Stahl, Pascal Martin, Natalie Winter, and Justus Marquetand. "Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia." Diagnostics 11, no. 2 (January 23, 2021): 163. http://dx.doi.org/10.3390/diagnostics11020163.

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Анотація:
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 muscle disorder patients and six healthy volunteers, shear wave velocities (SWV) parallel to the fiber orientation in the flexor digitorum superficialis muscle in the forearm were recorded with a temporal resolution of one per second during fist-clenching and subsequent relaxation; the relaxation time to 10% of normalized shear wave velocity (RT0.1) was calculated. Forty-six SWE imaging sequences were acquired, yielding a mean RT0.1 of 7.38 s in myotonic muscle disorder patients, significantly higher than in healthy volunteers (1.36 s), which is comparable to data obtained by mechanical dynamometry. SWV measurements during the baseline relaxation and voluntary contraction phases did not differ significantly between groups. We conclude that SWE is a promising, non-invasive, widely available tool for the quantitative assessment of myotonia to aid in diagnosis and therapeutic monitoring.
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9

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 (April 30, 2022): 333–36. http://dx.doi.org/10.3897/folmed.64.e59905.

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Анотація:
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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10

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 (December 11, 2006): 79–94. http://dx.doi.org/10.1085/jgp.200609635.

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Анотація:
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 channel properties of the skeletal muscle chloride channel (ClC-1) in individual flexor digitorum brevis (FDB) muscle fibers isolated from 1–3-wk-old wild-type and HSALR mice. The results indicate that peak ClC-1 current density at −140 mV is reduced >70% (−48.5 ± 3.6 and −14.0 ± 1.6 pA/pF, respectively) and the kinetics of channel deactivation increased in FDB fibers obtained from 18–20- d-old HSALR mice. Nonstationary noise analysis revealed that the reduction in ClC-1 current density in HSALR FDB fibers results from a large reduction in ClC-1 channel density (170 ± 21 and 58 ± 11 channels/pF in control and HSALR fibers, respectively) and a modest decrease in maximal channel open probability(0.91 ± 0.01 and 0.75 ± 0.03, respectively). Qualitatively similar results were observed for ClC-1 channel activity in knockout mice for muscleblind-like 1 (Mbnl1ΔE3/ΔE3), a second murine model of DM1 that exhibits prominent myotonia and altered Clcn1 splicing (Kanadia et al., 2003). These results support a molecular mechanism for myotonia in DM1 in which a reduction in both the number of functional sarcolemmal ClC-1 and maximal channel open probability, as well as an acceleration in the kinetics of channel deactivation, results from CUG repeat–containing mRNA molecules sequestering Mbnl1 proteins required for proper CLCN1 pre-mRNA splicing and chloride channel function.
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Більше джерел

Дисертації з теми "Myotonia; Muscle"

1

Papponen, H. (Hinni). "The muscle specific chloride channel ClC-1 and myotonia congenita in Northern Finland." Doctoral thesis, University of Oulu, 2008. http://urn.fi/urn:isbn:9789514286926.

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Анотація:
Abstract Functional defects in the muscle specific chloride channel ClC-1 result in reduced chloride conductance and electrical hyperexcitability, which in turn impairs muscle relaxation and leads to myotonia. The gene CLCN 1 codes for ClC-1 in humans, and mutations in CLCN 1 cause the disease known as myotonia congenita. Worldwide over 80 mutations in CLCN1 have been described, but only three were found in patients in Northern Finland. These included two missense mutations and a nonsense mutation. The behavior and localization of the normal and mutated ClC-1 mRNA and protein were analyzed in muscle cell cultures. In intact muscle the ClC-1 protein was seen in the sarcolemma, but after myofiber isolation the protein was located intracellularly. Sarcolemmal localization was restored when myofibers were electrically stimulated or treated with a protein kinase C inhibitor. When mutated ClC-1 proteins were examined in a myofiber cell culture system, retardation in the ER was observed with the two missense mutations. The nonsense mutation did not have an effect on the transport from the ER to the Golgi elements, but the mutated ClC-1 was degraded more rapidly than the wild type ClC-1, at least in myotubes. Both retardation and degradation of the mutated ClC-1 are likely to result in too few channels present at the plasma membrane of the muscle cell to maintain normal physiological function. A very strict quality control in muscle cells was observed. The behavior and survival of multinuclear skeletal muscle cells is dependent on innervation and muscle activity, and the balance between the phosphorylation and dephosphorylation pathways modulates the function of muscle chloride channels
Tiivistelmä Lihasspesifisen kloridikanavan ClC-1:n toiminnalliset virheet johtavat alentuneeseen kloridin johtumiseen solukalvon läpi ja lihassolun ylieksitoitumiseen. Tämän seurauksena lihaksen rentoutuminen vaikeutuu ja havaitaan myotoniaa, lihasjäykkyyttä. Pohjoissuomalaisesta potilasmateriaalista tautiin johtavia geenimutaatioita löytyi kolme erilaista. Poikkeuksellista havainnoissa on erilaisten mutaatioiden vähyys, mikä on tyypillistä suomalaiselle tautiperinnölle. Yhteensä tämän kloridikanavan mutaatioita on julkaistu yli 80 erilaista. Tutkiessamme normaalin ja mutatoidun ClC-1 lRNA:n ja proteiinin käyttäytymistä ja sijaintia lihassoluviljelmissä. Havaitsimme eron lihasleikkeiden ja eristettyjen myofiibereiden välillä. Lihasleikkeissä ClC-1 paikantui solun pinnalle sarkolemmalle, mutta eristetyissä myofiibereissä lähinnä solun sisälle. Stimuloimalla eristettyjä myofiibereitä sähkövirralla tai käsittelemällä proteiini kinaasi C inhibiittorilla, saimme kloridikanava-proteiinin siirtymään takaisin solun pinnalle. Proteiinitasolla kuljetuksessa on havaittavissa eroja. Aminohappomuutokseen johtavat pistemutaatiot aiheuttivat proteiinin jäämisen endoplasmiseen kalvostoon, kun taas ennenaikaisen stop-kodonin johdosta lyhentynyt proteiini kuljetetaan eteenpäin Golgin laitteeseen. Myotuubeissa tämä lyhentynyt proteiini kuitenkin hajotettiin nopeammin kuin normaali kloridikanavaproteiini. Sekä kuljetuksen hidastuminen että nopeampi hajotus johtavat tilanteeseen, jossa lihassolun solukalvolla on liian vähän kloridikanavia ylläpitämään lihaksen normaalia fysiologista toimintaa. Monitumaisten lihassolujen laaduntarkkailu havaittiin vielä monitahoisemmaksi kuin yksitumaisilla. Monitumainen lihassolu on riippuvainen hermoärsytyksestä ja lihasaktiivisuudesta. Lisäksi fosforylaatioon liittyvä signalointi on tärkeää ClC-1 proteiinin oikealle paikantumiselle lihassolussa
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2

Chaiklieng, Sunisa. "Low chloride conductance myotonia - in vitro investigations on muscle stiffness and the warm-up phenomenon." [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-61365.

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3

Hawash, Ahmed Alaa. "Persistent Inward Currents Play a Role in Muscle Dysfunction Seen inMyotonia Congenita." Wright State University / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=wright1500932300888521.

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4

Fialho, D. "Clinical, genetic and electrophysiological study of skeletal muscle channelopathies : new insights into myotonia congenita and Andersen-Tawil syndrome." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18909/.

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Анотація:
This thesis examines clinical characteristics, molecular genetic aspects and electrophysiological features of two muscle channelopathies - myotonia congenita (MC) and Andersen-Tawil syndrome (ATS). MC is a muscle stiffness disorder caused by mutations in the skeletal muscle chloride channel gene CLCN1. A detailed genotype-phenotype analysis was undertaken in an initial MC cohort (22 families). A screening strategy for genetic testing was developed and applied to a larger cohort (303 cases). Twenty-three novel mutations and a high proportion of dominant MC predominantly due to four novel mutations clustered in exon 8 were observed. These four mutations were studied in vitro using two-electrode voltage-clamp methods in Xenopus laevis oocytes. Loss of function and clear dominant-negative effect in CO-expression experiments were demonstrated. The Xenopus oocyte expression system was also used to study the non-genomic effect of sex hormones on CLC-1 channels. It is shown that both testosterone and progesterone rapidly and reversibly inhibit wild-type CIC-1 channels by causing a prominent rightward shift in the voltage dependence of their open probability. In contrast, 17 β-estradiol causes only a small shift. These results suggest a possible mechanism to explain how the severity of myotonia congenita may be modulated by sex hormones. The potential modifying effect of the myotonic dystrophy genes DMPK and ZNF9 on the phenotype of MC was investigated. Allele sizes for these genes were measured in more than 400 patients with suspected non-dystrophic myotonia. Four individuals were identified with an intermediate size allele of DMPK and ten individuals tested positive for myotonic dystrophy type 2. ATS is characterised by the triad of periodic paralysis, cardiac arrhythmias and dysmorphic features. A UK cohort with ATS is presented with detailed phenotype-genotype correlation. Novel mutations were found and unusual clinical features including renal tubular defect, CNS involvement, dental and phonation abnormalities were observed.
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5

Storbeck, Christopher J. "Effects of the myotonic dystrophy mutation in muscle differentiation and apoptosis." Thesis, University of Ottawa (Canada), 2002. http://hdl.handle.net/10393/6194.

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Анотація:
Myotonic dystrophy (DM) is the most common inherited neuromuscular disorder of adult life. The genetic defect for DM was identified as an unstable CTG trinucleotide repeat found in the 3' untranslated region (UTR) of a serine threonine p&barbelow;rotein k&barbelow;inase, DMPK. Normal individuals possess 5--35 CTG repeats, typical adult DM patients have repeat sizes ranging from 80 to 1000 while cDM patients have from 1000 to several thousand CTG repeats. This discovery provided a molecular basis to account for large variability of penetrance and age of onset in DM. Work in our laboratory progressed from ascertaining mRNA levels in patient tissues to testing the hypothesis that overexpression of DMPK might cause features of DM. Transgenic mice expressed the human DMPK mRNA and protein in the appropriate tissues and had many features of DM including type I fibre atrophy, central nuclei and ringed fibres. Induction of expression resulted in about three fold higher levels of CTG 99 mRNA over CTG 11 mRNA at 48 hours post induction. Levels of cell death were assayed following induction and CTG 99 cell lines showed a marked level of cell death while CTG 11 cell lines did not. The presence of CTG repeats within mRNA therefore appears to be very problematic for the cell. Furthermore, we found that patient amniocytes and myoblasts are susceptible to staurosporine induced cell death. Taken together, this data suggests that myoblasts expressing the DMPK 3' UTR are prone to cell death in an expression level and repeat length dependent manner. In addition, patient cells were found to be susceptible in much the same way. These experiments also revealed that myogenin levels in vivo were reduced in transgenic embryos compared with wild type embryos suggesting that expression of the DMPK 3' UTR in vivo inhibits accumulation of myogenin and perhaps myogenesis. In adult mice there was consistent muscle atrophy in CTG 91 but not in CTG 11 mice despite much lower expression levels of the CTG 91 transgene. Together, these results indicate that expression of the DMPK 3' UTR by itself may inhibit myogenesis in vivo and contribute to pathological features of DM-like muscle atrophy. (Abstract shortened by UMI.)
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6

Matloka, Magdalena. "MBNL derivatives for therapeutic application in myotonic dystrophy." Electronic Thesis or Diss., Sorbonne université, 2019. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2019SORUS269.pdf.

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Анотація:
Les Dystrophies Myotoniques de type 1 (DM1) et 2 (DM2) sont des maladies neuromusculaires autosomiques dominantes causées par l’expansion anormale de séquences microsatellites C(C)TG situées respectivement dans la région 3’UTR du gène DMPK et le premier intron du gène ZNF9. Les ARNs mutés contenant les expansions de répétitions sont retenus dans le noyau des cellules sous formes d’agrégats riboprotéiques et séquestrent les protéines de liaison à l’ARN de la famille MBNL conduisant à des dérégulations de l’épissage alternatif associés aux symptômes cliniques. Bien que différentes approches thérapeutiques pour la DM soient en développement, il n’existe à ce jour aucune thérapie. Dans ce travail de thèse, nous avons développé une stratégie innovante de thérapie génique basée sur une protéine MBNL1 modifiée. Ce dérivé MBNL∆ agit comme un leurre pour libérer les facteurs MBNL endogènes anormalement séquestrés par les ARN mutés, et restaurer leurs fonctions. Ainsi l’expression de MBNL∆ dans des modèles DM1 permet la correction des anomalies moléculaires et phénotypiques. Nous avons également réalisé différentes optimisations de cet outil dans le but d’accroître ces capacités fonctionnelles. Enfin, nous avons développé un système d’autorégulation basé sur un « senseur d’épissage » dans le but de contrôler l’expression protéique d’un transgène. La preuve de concept de ce système a été faite à l’aide de MBNL∆ et validée dans des modèles DM1. En conclusion, mon travail de thèse a permis d’établir le potentiel d’une approche de thérapie génique pour la DM de type « leurre » basée sur l’ingénierie de protéine de liaison à l’ARN
Myotonic dystrophy (DM) is an autosomal neuromuscular disease encompassing two distinct forms, type 1 (DM1) and type 2 (DM2), which are caused by abnormal microsatellite expansions of C(C)TG repeats in the 3’UTR of the DMPK and first intron of ZNF9 genes, respectively. Mutant RNAs carrying expanded repeats are retained in the nucleus as riboprotein aggregates that abnormally sequester MBNL splicing factors leading to alternative splicing misregulations associated with clinical symptoms. Although various therapeutic approaches for DM are under development, there is no effective therapy available so far. In this study, we designed a novel gene therapy strategy with the use of an engineered MBNL RNA-binding protein derivative that acts as a CUGexp-decoy to release sequestered endogenous MBNL factors and restore their proper functions. Expression of the decoy results in the correction of DM1-associated features in both in vitro and in vivo models of the disease. Subsequent optimization processes were applied to the engineered decoy and the most potent derivate that increases its functional capacity was selected for further therapeutic application. Additionally, we developed an autoregulatory system based on a splice-sensor strategy to control transgene product expression and provided a proof-of-concept of its efficacy in both in vitro and in vivo systems. In conclusion, my work establishes the potency of gene therapy treatment for DM and support the use of the decoy-based approach as an alternate or complementary therapeutic intervention for DM
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7

Palada, Vinko [Verfasser]. "Molecular mechanisms of muscle pain associated with myotonic dystrophy type II / Vinko Palada." Berlin : Freie Universität Berlin, 2017. http://d-nb.info/1128150751/34.

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8

Kiosses, Theodore. "DNA binding specificity and transcriptional regulation of Six4 : a myotonic dystrophy associated transcription factor." Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/3948.

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Attaining an understanding of the mechanisms underpinning development has been amongst the cardinal scientific challenges of our age. The transition from a single cell organism to the level of complexity evidenced in higher eukaryotes has been facilitated by the advent of intricate developmental networks involving a plethora of factors that synergise to allow for precise spatio-temporal expression of the proteins present in higher organisms. Development is often portrayed as a domino like cascade of events stemming from relatively uncomplicated origins that go on to branch out and form associations and interactions amongst multitudinous actors that will inexorably lead towards a higher state of order. Transcription factors occupy a central position within this tapestry of interactions. They regulate expression of the various required proteins and they provide the cues for the developmental events that will eventually shape an organism. These factors frequently remain unknown until some occurrence causes developmental processes to fail and inadvertently focus attention on the factors that facilitate development. Myotonic dystrophy is a useful paradigm of such a developmental dysfunction that has led to the discovery of a transcription factor integral to both muscle development and gonadogenesis in both Drosophila and higher eukaryotes.
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9

Whiting, Elisabeth J. "Localization of the myotonic dystrophy kinase in human and rodent muscle and central nervous tissue." Thesis, University of Ottawa (Canada), 1995. http://hdl.handle.net/10393/9986.

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Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterized by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of apolymorphic (CTG)$\rm\sb{n}$ repeat in the 3$\sp\prime$ untranslated region of a gene encoding a serine/threonine kinase (DMK). We have produced a polyclonal rabbit antibody preparation against a fusion protein encoding C-terminal amino acids 471-629 of the human DMK gene. This antibody specifically detects products of both full length and truncated human DMK genes expressed in bacteria and in insect cells. On immunoblots, we observed protein species of $\sim$74 and 82 kDa in human and rodent cardiac muscle and skeletal muscle, as well as rodent ependyma and choroid plexus. By immunofluorescence, DMK was found to localize postsynaptically at the neuromuscular junction of skeletal muscle, at intercalated discs of cardiac tissue and at the apical membrane of the ependyma and within the choroid plexus. We have also detected 2-3 species ($\sim$45-50 kDa) in brain tissue. Neuroanatomical evidence suggests synaptic localization for DMK in rodent cerebellum, hippocampus, midbrain and medulla. These results indicate that DMK may have a role in intercellular communication. Finally, we have demonstrated that DMK is present in adult and congenital DM tissues and that its distribution is no different than that observed in normal controls.
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10

YAMAMOTO, SHUHEI. "Evaluation of Skeletal Muscle with Thallium-201 Scintigraphy in Myotonic Muscular Dystrophy: A Case Report." Nagoya University School of Medicine, 1987. http://hdl.handle.net/2237/17494.

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Книги з теми "Myotonia; Muscle"

1

Fanning, Lorna. Factors influencing chemically induced myotonia in rat muscles. Dublin: University College Dublin, 1995.

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2

Shaibani, Aziz. Myotonia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0021.

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Myotonia is a slow relaxation phase after normal contraction. Patients report dystonia as muscle stiffness and sometimes pain. They usually adapt to it well. Falls due to myotonia may lead to accidents. Examination for percussion myotonia should be part of neuromuscular examination. Percussion of the thenar muscles with the reflex hammer is the most productive method. Electrically silent myotonia is a sign of Brody myopathy. Myotonia may be incidentally discovered during electromyography (EMG). The most important task is to differentiate between myotonia from paramyotonia clinically and electrically. There has been a significant understanding of the underlying channelopathies lately. Severe myotonia respond well to mexiletine.
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3

Nageshwaran, Sathiji, Heather C. Wilson, Anthony Dickenson, and David Ledingham. Disorders of muscle and neuromuscular junction. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199664368.003.0008.

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This chapter discusses the clinical features and evidence base for the pharmacological treatment of muscular disorders (inflammatory myopathies: polymyositis, dermatomyositis, and inclusion body myositis), mitochondrial myopathies, Duchenne muscular dystrophy (DMD), myotonic dystrophy, inherited neuromuscular channelopathies, non-dystrophic myotonias (myotonia congenita, paramyotonia congenita), periodic paralyses, acquired neuromyotonia (Isaac syndrome and Morvan syndrome), stiff person syndrome, and disorders of the neuromuscular junction (myasthenia gravis (MG), myasthenic crisis, and Lambert–Eaton myasthenic syndrome (LEMS).
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4

Shaibani, Aziz. Myotonia. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0021.

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Myotonia is a slow relaxation phase of a muscle after normal contraction. Patients report myotonia as muscle stiffness and sometimes pain. They usually adapt to it well. Falls due to myotonia may lead to accidents. Checking for percussion and action myotonia should be part of neuromuscular examination. Electrically silent myotonia is a sign of Brody’s syndrome. Myotonia may be incidentally discovered during EMG. The most important task is to differentiate between myotonia and paramyotonia clinically and electromyographically. Most myotonic disorders are caused by mutations of sodium, and chloride channels. There has been a significant understanding of the underlying channelopathies recently. Severe myotonia respond well to Mexiletine.
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5

Kennett, Robin P., and Sidra Aurangzeb. Primary muscle diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0024.

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This chapter on primary muscle diseases explains how analysis of compound muscle action potential (CMAP) amplitude, abnormal spontaneous activity on needle electromyography (EMG), and motor unit action potentials (MUAP) characteristics may be used to give an indication of pathophysiological processes, and goes on to describe the combination and distribution of abnormalities that may be expected in the more commonly encountered myopathies. The conditions considered in detail are inflammatory myopathy (including myositis), critical illness myopathy, disorders with myotonia, inherited myopathy (including muscular dystrophy), and endocrine, metabolic and toxic disorders. Each of these has a characteristic combination of CMAP, spontaneous EMG, and MUAP findings, but the systematic approach to clinical neurophysiology as a way of understanding muscle pathophysiology can be used to investigate the myriad of rare myopathies that may be encountered in clinical practice.
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6

Johnson, Andrea. Myotonic Dystrophy. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0034.

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Myotonic dystrophy (DM) is a multisystemic autosomal dominant disorder. Individuals may present with symptoms at any age, but pediatric patients typically will present before 10 years of age. The clinical features of DM differ depending on the type of dystrophy and include skeletal muscle weakness, myotonia, sleep apnea, decreased gastrointestinal motility, insulin hypersecretion, cardiac conduction abnormalities, and occasionally cognitive impairment. Anesthetic management of the patient with DM should begin in the preoperative arena and should take into account the postoperative considerations and concerns for the patient with DM. This chapter will help the clinician develop an appropriate anesthetic plan and implement a safe and effective perioperative experience.
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7

Shaibani, Aziz. Gait Disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0001.

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Gait is a complicated process that is initiated and maintained by different mechanisms, neurological including neuromuscular, and non-neurological including musculoskeletal. Neuromuscular clinics receive referrals about patients who may have non-neuromuscular disorders such as Parkinsondisease, focal foot dystonia, and multiple sclerosis. It is important for a neuromuscular specialist to be aware of other gait disorders. Important neuromuscular disorders of gait include neuropathies (foot drop, sensory ataxia), myopathies, muscle stiffness and spasms, myotonia, and motor neuron disease. Functional gait disorder comprises a significant entity that may lead to extensive non-necessary investigations that can be saved if the specialist is aware of these symptoms.
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8

Shaibani, Aziz. Gait Disorders. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0001.

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Gait is a complicated process that is initiated and maintained by different mechanisms, both neurological (including neuromuscular) and nonneurological (including musculoskeletal). Neuromuscular clinics receive referrals about patients who may have nonneuromuscular disorders such as Parkinson disease, focal foot dystonia, and multiple sclerosis (MS). It is important for neuromuscular specialists to be aware of other gait disorders as well. Important neuromuscular disorders of gait include neuropathies (foot drop, sensory ataxia), myopathies, muscle stiffness and spasms, myotonia, and motor neuron disease. Functional gait disorder comprises a significant entity that may lead to extensive, unnecessary investigations that can be saved if the specialist is aware of the characteristic features of these symptoms.
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9

Lahouti, Arash H., and Lisa Christopher-Stine. Toxic myopathies. Edited by Hector Chinoy and Robert Cooper. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198754121.003.0009.

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Toxic myopathy symptoms range from myalgia and muscle cramps to severe weakness, bearing similarities to a number of other muscle conditions. Thus, when evaluating patients with muscle symptoms, an iatrogenic muscle problem should always be considered, to be able to distinguish a toxic from any other myopathy early on, preventing further muscle damage and to potentially reverse muscle injury by withdrawal of the toxic agent. Various commonly prescribed medications, as well as illicit drugs, may cause muscle damage. These substances may cause muscle injury through direct myotoxic effects, or indirectly through various mechanisms, such as electrolyte abnormalities and triggering, or disinhibiting the immune system response.
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10

Swash, Michael. Myology. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0012.

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Diseases of muscle have become better understood by careful clinical observations, resulting in a clinically useful classification of the different groups of disorders e.g. inherited muscular dystrophies such as Duchenne muscular dystrophy, limb-girdle and metabolic myopathies, and myotonic disorders. A number of scientific approaches have determined the directions taken by this evolving classification. Understanding of the anatomy of the motor unit’s distribution in muscle transformed muscle pathology and muscle electrophysiology, and key to these pathological advances was the use of the histochemical technique for identifying myofibrillar ATPase in muscle fibres. This allowed studies of the distribution of fibre types in muscle in many different disorders. The inflammatory muscle diseases have been better understood since recent advances in immunology have characterized the underlying processes. The limb-girdle and childhood myopathies have proven to be heterogeneous, with many different, apparently causative, underlying genetic mutations.
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Частини книг з теми "Myotonia; Muscle"

1

Anderson, Janice R. "Myotonia." In Atlas of Skeletal Muscle Pathology, 89–96. Dordrecht: Springer Netherlands, 1985. http://dx.doi.org/10.1007/978-94-009-4866-2_11.

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2

Ruff, Robert L., and Barbara E. Shapiro. "Disorders of Skeletal Muscle Membrane Excitability: Myotonia Congenita, Paramyotonia Congenita, Periodic Paralysis, and Related Syndromes." In Neuromuscular Disorders in Clinical Practice, 1149–85. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-6567-6_53.

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3

Reimers, Carl D., and Thomas J. Vogl. "Myotonic Disorders." In Muscle Imaging in Health and Disease, 237–43. New York, NY: Springer New York, 1996. http://dx.doi.org/10.1007/978-1-4612-2314-6_17.

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4

Schoser, Benedikt. "Myotonic Dystrophies Type 1 and 2." In Muscle Disease, 273–83. Oxford, UK: John Wiley & Sons, Ltd, 2013. http://dx.doi.org/10.1002/9781118635469.ch30.

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5

Russell, James W., M. D. Weiss, B. J. Distad, and R. J. Castellani. "Muscle and Myotonic Diseases." In Atlas of Neuromuscular Diseases, 247–81. Vienna: Springer Vienna, 2014. http://dx.doi.org/10.1007/978-3-7091-1605-0_11.

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6

Feldman, Eva L., James W. Russell, Wolfgang N. Löscher, Wolfgang Grisold, and Stefan Meng. "Muscle and Myotonic Diseases." In Atlas of Neuromuscular Diseases, 275–312. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-63449-0_14.

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7

Takahashi, Masanori P. "Clinical Features of Skeletal Muscle and Their Underlying Molecular Mechanism." In Myotonic Dystrophy, 45–61. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5_3.

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8

Chuah, Marinee, Yoke Chin Chai, Sumitava Dastidar, and Thierry VandenDriessche. "Gene Therapy and Gene Editing for Myotonic Dystrophy." In Muscle Gene Therapy, 525–48. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-03095-7_30.

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9

Griggs, R. C., V. Sansone, G. Meola, and R. T. Moxley. "Exercise Intolerance and Muscle Pain in Myotonic Disorders." In Exercise Intolerance and Muscle Contracture, 133–41. Paris: Springer Paris, 1999. http://dx.doi.org/10.1007/978-2-8178-0855-0_15.

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10

Jockusch, Harald. "Muscle Fibre Transformations in Myotonic Mouse Mutants." In The Dynamic State of Muscle Fibers, edited by Dirk Pette, 429–44. Berlin, Boston: De Gruyter, 1990. http://dx.doi.org/10.1515/9783110884784-035.

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Тези доповідей конференцій з теми "Myotonia; Muscle"

1

Nowlan, Niamh C., Paula Murphy, and Patrick J. Prendergast. "Mechanical Stimuli Resulting From Embryonic Muscle Contractions Promote Avian Periosteal Bone Collar Formation." In ASME 2007 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2007. http://dx.doi.org/10.1115/sbc2007-172077.

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Mechanical forces due to muscle contractions play an essential role in embryonic skeletal development. In neuromuscular conditions such as congenital myotonic dystrophy, where movement of the fetus in utero is reduced or absent, the bones and joints of the newborn often show malformations [1]. In this paper, we examine the effect of muscle contractions on embryonic bone development. We propose the hypothesis that mechanical loading due to muscle contractions promotes periosteal ossification and we test this hypothesis using computational and experimental methods. A set of FE analyses were performed using anatomically realistic morphologies and loading conditions, at several timepoints during development, in order to identify biophysical stimuli active during bone formation. Avian immobilization experiments were performed to examine bone growth in the absence of skeletal muscle contractions.
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2

Moreira, João Victor Aguiar, Isabela Maria Bernardes Goulart, Diogo Fernandes dos Santos, Isabella Sabião Borges, Pedro Otávio Rego de Aguiar, Thaciany Soares Ferreira, Leonardo Peixoto Garcia, et al. "Bilateral diaphragmatic eventration and alveolar hypoventilation in congenital myotonic dystrophy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.533.

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Context: Congenital myotonic dystrophy (CMD) is a subtype of type 1 myotonic dystrophy presented in the neonatal period associated with a 16–40% mortality rate. CMD cause significant morbidity and mortality and often require intensive intervention at birth because of hypotonia, respiratory failure and feeding difficulties. It can cause respiratory problems including ineffective cough, recurrent pulmonary infections, orthopnea, dyspnea, poor sleep, apnea and snoring. However, there are few descriptions about diaphragmatic impairment in CMD. We present a baby who had bilateral diaphragmatic eventration associated with CMD. Case report: A term outborn female baby with normal birth weight, delivered by cesarean presenting hypotonia and breathing difficulty since birth. There was no history of meconium aspiration syndrome and aspiration pneumonia. Neurological examination showed a severe hypotonia, eyelid ptosis, oral motor weakness and suction inability, without contractures. Chest X-rays confirmed the bilateral diaphragmatic paralysis. Electroneuromyography confirmed a marked myopathic involvement with frequent myotonic discharges. The mother presented clinical and electrical myotonic phenomena. The baby started mechanical ventilation as was not maintaining saturation on head box oxygen. After surgical repair the baby started on non-invasive respiratory support with improvement of ventilatory conditions. Conclusion: Diaphragmatic eventration is a congenital condition where the muscle maintains its normal costal attachments but is significantly elevated with limited motility. Clinical manifestations vary to life-threatening respiratory distress. Bilateral congenital diaphragmatic eventration is rarer and has more guarded prognosis. Early diaphragmatic plication enhances weaning process and may prevent or minimize the morbidity. Infants with CMD should be monitored for diaphragmatic impairment.
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3

Fregonezi, Guilherme, Morgana Araujo Evangelista, Fernando Dias, Mario Emilio Dourado Jr., Illia Nadine Dantas Florentino Lima, Vanessa Resqueti, and Andrea Aliverti. "Noninvasive assessment of respiratory muscle strenght and activity in myotonic dystrophy." In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa5040.

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4

van Lunteren, Erik, Michelle Moyer, and Andrea Ladd. "Gene Expression Perturbations In Muscle Of A Mouse Model Of Myotonic Dystrophy." In American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a2708.

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5

Spiesshoefer, Jens, Carolin Henke, Hans-Joachim Kabitz, Tobias Brix, Simon Herkenrath, Winfried Randerath, Peter Young, and Matthias Boentert. "Inspiratory muscle dysfunction relates to clinical disease severity in patients with type I myotonic dystrophy." In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.pa3930.

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Burian, Egon, Tobias Greve, Agnes Zoffl, Georg Feuerriegel, Sarah Schlaeger, Michael Dieckmeyer, Nico Sollmann, et al. "Regional Variation of Thigh Muscle Composition in Healthy Controls and Patients with Myotonic Dystrophy Type 2, Limb Girdle Muscular Dystrophy Type 2A, and Pompe’s Disease." In Abstracts of the Scientific Presentations of the 6th Annual Meeting of the DGMSR. Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1709541.

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