T. A. Gremyakova, S. Artemyeva, E. N. Baybarina, N. Vashakmadze, V. Guzeva, E. Gusakova, L. Kuzenkova, A. E. Lavrova, O. Lvova, S. Mikhaylova, L. Nazarenko, S. Nikitin, A. Polyakov, E. Dadali, A. G. Rumyantsev, G. E. Sakbaeva, V. M. Suslov, O. I. Gremyakova, A. Stepanov, N. Shakhovskaya
{"title":"Consensus concept of modern effective therapy for Duchenne muscular dystrophy","authors":"T. A. Gremyakova, S. Artemyeva, E. N. Baybarina, N. Vashakmadze, V. Guzeva, E. Gusakova, L. Kuzenkova, A. E. Lavrova, O. Lvova, S. Mikhaylova, L. Nazarenko, S. Nikitin, A. Polyakov, E. Dadali, A. G. Rumyantsev, G. E. Sakbaeva, V. M. Suslov, O. I. Gremyakova, A. Stepanov, N. Shakhovskaya","doi":"10.17650/2222-8721-2023-13-2-10-19","DOIUrl":null,"url":null,"abstract":"Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by a mutation in the DMD gene encoding the protein dystrophin. As a result of developing and progressive muscle damage and atrophy, children lose the ability to walk, develop respiratory and cardiac disorders. The core elements of good care standards are early diagnosis, prevention and treatment of osteoporosis, daily physical therapy, regular rehabilitation, glucocorticosteroids, and control of heart and lung function. The clinical effect of new targeted pathogenetic therapies for Duchenne muscular dystrophy, restoring synthesis of full or truncated dystrophin, depend on their appropriate combination with existing standards of care.","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":null,"pages":null},"PeriodicalIF":3.2000,"publicationDate":"2023-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of neuromuscular diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.17650/2222-8721-2023-13-2-10-19","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by a mutation in the DMD gene encoding the protein dystrophin. As a result of developing and progressive muscle damage and atrophy, children lose the ability to walk, develop respiratory and cardiac disorders. The core elements of good care standards are early diagnosis, prevention and treatment of osteoporosis, daily physical therapy, regular rehabilitation, glucocorticosteroids, and control of heart and lung function. The clinical effect of new targeted pathogenetic therapies for Duchenne muscular dystrophy, restoring synthesis of full or truncated dystrophin, depend on their appropriate combination with existing standards of care.
期刊介绍:
The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.