Oculogastrointestinal muscular dystrophy

Overview

Diagnosis

Management

Special Populations

Key Recommendations

References

Showing 100 most recent of 220 indexed papers.

1 Esmel-Vilomara R, Riaza L, Costa-Comellas L, Sabaté-Rotés A, Gran F. Asymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings. Pediatric cardiology 2025. link 2 Amador AF, Pinho T, Martins da Costa C, Madureira AJ, Martins E. Cardiovascular magnetic resonance in muscular dystrophies: looking ahead. Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace 2025. link 3 Al-Salahat A, Dilsaver DB, Bawaneh S, Chen YT. Outcomes of cerebrovascular disease in muscular dystrophies: A propensity-matched nationwide analysis. European journal of neurology 2025. link 4 Matsumura T, Fukudome T, Motoyoshi Y, Nakamura A, Kuru S, Segawa K et al.. Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study. Orphanet journal of rare diseases 2025. link 5 Shi H, Chen R, Li M, Ge J. Acute hepatotoxicity of intravenous amiodarone in a Becker muscular dystrophy patient with decompensated heart failing and ABCB4 gene mutation: as assessed for causality using the updated RUCAM. Journal of cardiothoracic surgery 2024. link 6 Loureiro M, Branco C, Duarte J, Coutinho G, Martins MM, Novo A. Cardiac Rehabilitation in a Transplanted Person with Emery-Dreifuss Muscular Dystrophy. Arquivos brasileiros de cardiologia 2023. link 7 Nandi D, Auerbach SR, Bansal N, Buchholz H, Conway J, Esteso P et al.. Initial multicenter experience with ventricular assist devices in children and young adults with muscular dystrophy: An ACTION registry analysis. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2023. link 8 Gyoten T, Amiya E, Kinoshita O, Tsuji M, Kimura M, Hatano M et al.. Clinical outcomes of continuous flow left ventricular assist device therapy as bridge to transplant strategy in muscular dystrophy: a single-center study. General thoracic and cardiovascular surgery 2023. link 9 Sato F, Kohsaka A, Tanimoto T, Bhawal UK, Muragaki Y. Histological analysis of a Becker muscular dystrophy case, diurnal expression of dystrophin in control mice and decreased expression of dystrophin in Bmal1 knockout mice. Histology and histopathology 2023. link 10 Xie Z, Sun C, Liu C, Xie Z, Wei L, Yu J et al.. Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. Journal of neurology 2023. link 11 Mogharehabed F, Czubryt MP. The role of fibrosis in the pathophysiology of muscular dystrophy. American journal of physiology. Cell physiology 2023. link 12 Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R et al.. Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure. European heart journal 2023. link 13 Jain S, Singh AP, Kumar A, Saluja R, Nema R. Stem cells research prospects towards precision medicine. Bratislavske lekarske listy 2022. link 14 Kim Y, Park MK, Shin MJ, Shin YB, Lee HW, Yun RY et al.. Early cardiac rehabilitation after heart transplantation in a patient with limb-girdle muscular dystrophy: A case report. Medicine 2022. link 15 Kurt M, Savaş D, Tarsuslu Şimşek T, Yiş U. Stimulated biofeedback training for a child with Becker muscular dystrophy and compartment syndrome in the left forearm. Physiotherapy theory and practice 2022. link 16 Takamizawa K, Kim KS, Ueda H. Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy preceding skeletal muscle symptoms. Cardiology in the young 2022. link 17 Matsumura T, Hashimoto H, Sekimizu M, Saito AM, Motoyoshi Y, Nakamura A et al.. Tranilast for advanced heart failure in patients with muscular dystrophy: a single-arm, open-label, multicenter study. Orphanet journal of rare diseases 2022. link 18 Del Rio-Pertuz G, Morataya C, Parmar K, Dubay S, Argueta-Sosa E. Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases. Orphanet journal of rare diseases 2022. link 19 Del Rio-Pertuz G, Morataya C, Ratheal K, Rios SR, Sethi P, Argueta-Sosa E. Heart Failure as the Initial Clinical Manifestation of Becker Muscular Dystrophy in an Adult. Texas Heart Institute journal 2022. link 20 Visrodia P, Patel NJ, Burford M, Hamilton MA, Patel JK, Kobashigawa JA et al.. Heart transplantation in muscular dystrophy: Single-center analysis. Clinical transplantation 2022. link 21 Levillain A, Ahmed S, Kaimaki DM, Schuler S, Barros S, Labonte D et al.. Prenatal muscle forces are necessary for vertebral segmentation and disc structure, but not for notochord involution in mice. European cells & materials 2021. link 22 Su X, Shen Y, Jin Y, Weintraub NL, Tang YL. Identification of critical molecular pathways involved in exosome-mediated improvement of cardiac function in a mouse model of muscular dystrophy. Acta pharmacologica Sinica 2021. link 23 Koyanagawa K, Kobayashi Y, Aikawa T, Takeda A, Shiraishi H, Tsuneta S et al.. Myocardial T. Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine 2021. link 24 Blaszczyk E, Gröschel J, Schulz-Menger J. Role of CMR Imaging in Diagnostics and Evaluation of Cardiac Involvement in Muscle Dystrophies. Current heart failure reports 2021. link 25 Marchel M, Madej-Pilarczyk A, Steckiewicz R, Stolarz P, Peller M, Tymińska A et al.. Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss muscular dystrophy in a long-term follow-up. Kardiologia polska 2021. link 26 von der Hagen M, Becker LL, Wienker TF, Smitka M, Musante L, Ropers HH et al.. Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders. Neuropediatrics 2020. link 27 Chiba Y, Fukushima A, Nakao M, Kobayashi Y, Ishigaki T, Tenma T et al.. Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy. Internal medicine (Tokyo, Japan) 2020. link 28 Cirino RHD, Scola RH, Ducci RD, Camarozano AC, Kay CSK, Lorenzoni PJ et al.. Evaluation of Left-Sided Heart Chambers With Novel Echocardiographic Techniques in Men With Duchenne or Becker Muscular Dystrophy. The American journal of cardiology 2019. link 29 Aikawa T, Takeda A, Oyama-Manabe N, Naya M, Yamazawa H, Koyanagawa K et al.. Progressive left ventricular dysfunction and myocardial fibrosis in Duchenne and Becker muscular dystrophy: a longitudinal cardiovascular magnetic resonance study. Pediatric cardiology 2019. link 30 Wang S, Peng D. Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies. International heart journal 2019. link 31 Bryant SM, Kong CHT, Cannell MB, Orchard CH, James AF. Loss of caveolin-3-dependent regulation of I. American journal of physiology. Heart and circulatory physiology 2018. link 32 Silvestri NJ, Ismail H, Zimetbaum P, Raynor EM. Cardiac involvement in the muscular dystrophies. Muscle & nerve 2018. link 33 Russo V, Papa AA, Williams EA, Rago A, Palladino A, Politano L et al.. ACE inhibition to slow progression of myocardial fibrosis in muscular dystrophies. Trends in cardiovascular medicine 2018. link 34 Ogiso M, Isogai T, Kato K, Tanaka H, Tejima T, Isozaki E. Electrocardiographic and echocardiographic findings in muscular dystrophy patients with heart failure. Heart and vessels 2018. link 35 Purkey NJ, Lin A, Murray JM, Gowen M, Shuttleworth P, Maeda K et al.. Long-Term Pediatric Ventricular Assist Device Therapy: A Case Report of 2100+ Days of Support. ASAIO journal (American Society for Artificial Internal Organs : 1992) 2018. link 36 Homma K, Nagata E, Hanano H, Uesugi T, Ohnuki Y, Matsuda S et al.. A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. The Tokai journal of experimental and clinical medicine 2018. link 37 Fayssoil A, Yaou RB, Ogna A, Leturcq F, Nardi O, Clair B et al.. Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation. ESC heart failure 2017. link 38 Pick JM, Ellis ZD, Alejos JC, Chang AC. Rapidly progressive heart failure requiring transplantation in muscular dystrophy: a need for frequent screening. Cardiology in the young 2017. link 39 Bkaily G, Jacques D. Na. Canadian journal of physiology and pharmacology 2017. link 40 Yamamoto T, Taniguchi-Ikeda M, Awano H, Matsumoto M, Lee T, Harada R et al.. Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy. Brain & development 2017. link 41 Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S et al.. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. The Journal of clinical investigation 2016. link 42 Florian A, Rösch S, Bietenbeck M, Engelen M, Stypmann J, Waltenberger J et al.. Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study. European heart journal. Cardiovascular Imaging 2016. link 43 Nakamura M, Sunagawa O, Hokama R, Tsuchiya H, Miyara T, Taba Y et al.. A Case of Refractory Heart Failure in Becker Muscular Dystrophy Improved With Corticosteroid Therapy. International heart journal 2016. link 44 Chadwick JA, Swager SA, Lowe J, Welc SS, Tidball JG, Gomez-Sanchez CE et al.. Myeloid cells are capable of synthesizing aldosterone to exacerbate damage in muscular dystrophy. Human molecular genetics 2016. link 45 Hollander SA, Rizzuto S, Hollander AM, Lin A, Liu E, Murray JM et al.. Obesity and Premature Loss of Mobility in Two Adolescents with Becker Muscular Dystrophy After HeartMate II Implantation. ASAIO journal (American Society for Artificial Internal Organs : 1992) 2016. link 46 Nicolas A, Raguénès-Nicol C, Ben Yaou R, Ameziane-Le Hir S, Chéron A, Vié V et al.. Becker muscular dystrophy severity is linked to the structure of dystrophin. Human molecular genetics 2015. link 47 Tsuda T, Fitzgerald K, Scavena M, Gidding S, Cox MO, Marks H et al.. Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27. Journal of human genetics 2015. link 48 Mull A, Kim G, Holaska JM. LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. Muscle & nerve 2015. link 49 Meinke P, Schneiderat P, Srsen V, Korfali N, Lê Thành P, Cowan GJ et al.. Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. Neuromuscular disorders : NMD 2015. link 50 Petri H, Sveen ML, Thune JJ, Vissing C, Dahlqvist JR, Witting N et al.. Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study. International journal of cardiology 2015. link 51 Davies RR, Priest M, Pizarro C. First use of an intra-pericardial continuous flow ventricular assist device in a child with muscular dystrophy. Cardiology in the young 2015. link 52 Sabharwal R, Chapleau MW. Autonomic, locomotor and cardiac abnormalities in a mouse model of muscular dystrophy: targeting the renin-angiotensin system. Experimental physiology 2014. link 53 Hirota M, Hoshino J, Fukada Y, Kondo T, Takahashi Y, Notomi Y et al.. Posterior restoration of left ventricle and mitral valve repair in patients with muscular dystrophy. The Annals of thoracic surgery 2014. link 54 Ceravolo F, Messina S, Rodolico C, Strisciuglio P, Concolino D. Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. European journal of pediatrics 2014. link 55 López Álvarez A, Román Fernández A, Vilanova Vázquez V, Corujeira Rivera MC, Areán González I, Valiño Hortas C. Total intravenous anesthesia for aortic aneurysm replacement surgery in a patient with limb-girdle dystrophy. Revista espanola de anestesiologia y reanimacion 2014. link 56 Chakrabarty B, Sharma MC, Gulati S, Kabra M, Pandey RM, Sarkar C. Skin biopsy: a new tool to diagnose sarcoglycanopathy. Journal of child neurology 2014. link 57 Swaggart KA, McNally EM. Modifiers of heart and muscle function: where genetics meets physiology. Experimental physiology 2014. link 58 Fayssoil A, Ritzenthaler T, Luis D, Hullin T, Clair B, Annane D et al.. Be careful about abdominal discomfort in adult patients with muscular dystrophy. Revue neurologique 2014. link 59 Bhat HF, Adams ME, Khanday FA. Syntrophin proteins as Santa Claus: role(s) in cell signal transduction. Cellular and molecular life sciences : CMLS 2013. link 60 Coutance G, Labombarda F, Cauderlier E, Belin A, Richard P, Bonne G et al.. Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. Congenital heart disease 2013. link 61 Andrikopoulos G, Kourouklis S, Trika C, Tzeis S, Rassias I, Papademetriou C et al.. Cardiac resynchronization therapy in becker muscular dystrophy. Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese 2013. link 62 Meune C, Khouzami L, Wahbi K, Caramelle P, Decostre V, Bonne G et al.. Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement. Neuromuscular disorders : NMD 2012. link 63 Saini-Chohan HK, Mitchell RW, Vaz FM, Zelinski T, Hatch GM. Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases. Journal of lipid research 2012. link 64 Delfín DA, Zang KE, Schill KE, Patel NT, Janssen PM, Raman SV et al.. Cardiomyopathy in the dystrophin/utrophin-deficient mouse model of severe muscular dystrophy is characterized by dysregulation of matrix metalloproteinases. Neuromuscular disorders : NMD 2012. link 65 McNally EM, Goldstein JA. Interplay between heart and skeletal muscle disease in heart failure: the 2011 George E. Brown Memorial Lecture. Circulation research 2012. link 66 He B, Tang RH, Weisleder N, Xiao B, Yuan Z, Cai C et al.. Enhancing muscle membrane repair by gene delivery of MG53 ameliorates muscular dystrophy and heart failure in δ-Sarcoglycan-deficient hamsters. Molecular therapy : the journal of the American Society of Gene Therapy 2012. link 67 Wansapura JP, Millay DP, Dunn RS, Molkentin JD, Benson DW. Magnetic resonance imaging assessment of cardiac dysfunction in δ-sarcoglycan null mice. Neuromuscular disorders : NMD 2011. link 68 Xu Y, Delfín DA, Rafael-Fortney JA, Janssen PM. Lengthening-contractions in isolated myocardium impact force development and worsen cardiac contractile function in the mdx mouse model of muscular dystrophy. Journal of applied physiology (Bethesda, Md. : 1985) 2011. link 69 Roque JM, Carvalho VO, Pascoalino LN, Ferreira SA, Bocchi EA, Guimarães GV. Physical training in Becker muscular dystrophy associated with heart failure. Arquivos brasileiros de cardiologia 2011. link 70 Jearawiriyapaisarn N, Moulton HM, Sazani P, Kole R, Willis MS. Long-term improvement in mdx cardiomyopathy after therapy with peptide-conjugated morpholino oligomers. Cardiovascular research 2010. link 71 Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: from the biology of caveolin-3 to human diseases. European journal of human genetics : EJHG 2010. link 72 Lu PJ, Zillmer A, Wu X, Lochmuller H, Vachris J, Blake D et al.. Mutations alter secretion of fukutin-related protein. Biochimica et biophysica acta 2010. link 73 Städler B, Blättler TM, Franco-Obregón A. Time-lapse imaging of in vitro myogenesis using atomic force microscopy. Journal of microscopy 2010. link 74 Bobo JK, Kenneson A, Kolor K, Brown MA. Adherence to american academy of pediatrics recommendations for cardiac care among female carriers of duchenne and becker muscular dystrophy. Pediatrics 2009. link 75 Bourteel H, Vermersch P, Cuisset JM, Maurage CA, Laforet P, Richard P et al.. Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. Journal of neurology, neurosurgery, and psychiatry 2009. link 76 Kaspar RW, Allen HD, Ray WC, Alvarez CE, Kissel JT, Pestronk A et al.. Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Circulation. Cardiovascular genetics 2009. link 77 Chase TH, Cox GA, Burzenski L, Foreman O, Shultz LD. Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B. The American journal of pathology 2009. link 78 Gurnaney H, Brown A, Litman RS. Malignant hyperthermia and muscular dystrophies. Anesthesia and analgesia 2009. link 79 Margeta M, Connolly AM, Winder TL, Pestronk A, Moore SA. Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. Muscle & nerve 2009. link 80 Holloway SM, Wilcox DE, Wilcox A, Dean JC, Berg JN, Goudie DR et al.. Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland. Heart (British Cardiac Society) 2008. link 81 Politano L, Palladino A, Nigro G, Scutifero M, Cozza V. Usefulness of heart rate variability as a predictor of sudden cardiac death in muscular dystrophies. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2008. link 82 Golzio PG, Chiribiri A, Gaita F. 'Unexpected' sudden death avoided by implantable cardioverter defibrillator in Emery Dreifuss patient. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2007. link 83 Norwood F, de Visser M, Eymard B, Lochmüller H, Bushby K. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. European journal of neurology 2007. link 84 Durham WJ, Wehrens XH, Sood S, Hamilton SL. Diseases associated with altered ryanodine receptor activity. Sub-cellular biochemistry 2007. link 85 Ramelli GP, Joncourt F, Luetschg J, Weis J, Tolnay M, Burgunder JM. Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series. Swiss medical weekly 2006. link 86 Feeley C, Rasbridge S. Cardiomyopathy with a unique finding of bicuspid aortic valve in Becker's muscular dystrophy. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2006. link 87 Calvert LD, McKeever TM, Kinnear WJ, Britton JR. Trends in survival from muscular dystrophy in England and Wales and impact on respiratory services. Respiratory medicine 2006. link 88 Yugeta N, Urasawa N, Fujii Y, Yoshimura M, Yuasa K, Wada MR et al.. Cardiac involvement in Beagle-based canine X-linked muscular dystrophy in Japan (CXMDJ): electrocardiographic, echocardiographic, and morphologic studies. BMC cardiovascular disorders 2006. link 89 Komanapalli CB, Sera V, Slater MS, Burdette M, Tripathy U, Brady G et al.. Becker's muscular dystrophy and orthotopic heart transplantation: perioperative considerations. The heart surgery forum 2006. link 90 . Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics 2005. link 91 Zhu T, Zhou L, Mori S, Wang Z, McTiernan CF, Qiao C et al.. Sustained whole-body functional rescue in congestive heart failure and muscular dystrophy hamsters by systemic gene transfer. Circulation 2005. link 92 Hoogerwaard EM, Ginjaar IB, Bakker E, de Visser M. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology 2005. link 93 Decostre V, Ben Yaou R, Bonne G. Laminopathies affecting skeletal and cardiac muscles: clinical and pathophysiological aspects. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2005. link 94 Goodwin FC, Muntoni F. Cardiac involvement in muscular dystrophies: molecular mechanisms. Muscle & nerve 2005. link 95 Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A et al.. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Archives of neurology 2005. link 96 Park OY, Ahn Y, Park WS, Lim JH, Park HW, Kim JH et al.. Rapid progression from hypertrophic cardiomyopathy to heart failure in a patient with Becker's muscular dystrophy. European journal of heart failure 2005. link 97 Deasy BM, Li Y, Huard J. Tissue engineering with muscle-derived stem cells. Current opinion in biotechnology 2004. link 98 Matsumura K, Arai K, Zhong D, Saito F, Fukuta-Ohi H, Maekawa R et al.. Disruption of dystroglycan axis by beta-dystroglycan processing in cardiomyopathic hamster muscle. Neuromuscular disorders : NMD 2003. link00139-1) 99 Sanna T, Dello Russo A, Toniolo D, Vytopil M, Pelargonio G, De Martino G et al.. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. European heart journal 2003. link 100 Chrzanowski L, Kasprzak JD, Trzos E, Wasikowski K, Drozdz J, Ryniewicz B et al.. Different expressions of X-linked cardiomyopathy in monozygotic triplets with Becker's dystrophy. The international journal of cardiovascular imaging 2003. link