Consensus concept of modern effective therapy for Duchenne muscular dystrophy

IF 3.2 4区 医学 Q2 CLINICAL NEUROLOGY
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
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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.
杜氏肌营养不良现代有效治疗的共识概念
杜氏肌营养不良症是一种遗传性孤儿神经肌肉疾病,由编码肌营养不良蛋白的DMD基因突变引起。由于发展和进行性肌肉损伤和萎缩,儿童失去行走能力,发展呼吸和心脏疾病。良好护理标准的核心要素是早期诊断、骨质疏松症的预防和治疗、日常物理治疗、定期康复、糖皮质激素和心肺功能控制。针对杜氏肌营养不良的新靶向致病疗法的临床效果,恢复完整或截断的肌营养不良蛋白的合成,取决于它们与现有护理标准的适当结合。
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来源期刊
Journal of neuromuscular diseases
Journal of neuromuscular diseases Medicine-Neurology (clinical)
CiteScore
5.10
自引率
6.10%
发文量
102
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.
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