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Background Eccentric exercise or high tension exercise could cause damage to skeletal muscle structure, resulting in deficiency of dystrophin and secondary loss of dystrophin-glycoprotein complex (DGC) from the sarcolemma, which indicated that down-regulation of dystrophin was one of the key points of skeletal muscle injury from eccentric exercise. Duchenne muscular dystrophy (DMD) is caused by mutations of DMD gene, resulting in the absence of dystrophin, which means that skeletal muscles of DMD patients after birth are in the natural state of actual path of force transmission which carried high tension from eccentric exercise. This paper investigated systematically whether expression of DGC is associated with progressive muscle weakness in natural history of DMD, and analyzed the expression of DGC at the sarcolemma of 197 confirmed DMD cases (9 days-12 years old). Methods The expression of α- and β-dystroglycan (DG), β-, γ- and δ-sarcoglycan (SG) and syntrophin at the sarcolemma of DMD patients was analyzed by immunofluorescent staining. Results The study showed that there was no relationship between lack of proteins and progressive muscle weakness with increasing age, although expression of α-and β- dystroglycan- DG, α, β-, γ- and δ-SG and syntrophin at the sarcolemma at different stages of 197 DMD patients (9 days --12 years old) had different degrees of deficiency. Conclusions Deficiency of DGC may occur before birth and DMD patients were recommended to avoid further damage to skeletal muscles from eccentric exercise and high-resistance movement in activities of daily life and rehabilitation training. [ABSTRACT FROM AUTHOR]

Background China is one of the countries that have the largest number of patients suffering from Duchenne and Becker muscular dystrophy (DMD/BMD). Although the building of international DMD/BMD databases has laid a foundation for clinical drug development and clinical trials, it has not yet been carried out in China. In this study, a modified registry form of Remudy was applied to 229 DMD/BMD patients in order to establish a comprehensive database, which will lay the groundwork for international cooperation. Methods A total of 229 DMD/BMD patients diagnosed by genetic testing or muscle biopsy admitted in Children's Hospital of Fudan University (CHFU) during the period of August 2011 to December 2013 were enrolled in this study. The data included sex, age, age at diagnosis, geographic distribution of patients, DMD gene mutation types, family history, walking capability, cardiac and respiratory function, steroid treatment and rehabilitation intervention. Results There were 194 DMD and 35 BMD male patients who were diagnosed at the age of 0-18 years, and among them, most patients were diagnosed at the age of > 3-4 (16.59%, 38/229) and > 7-8 (14.85%, 34/229) years. Exon deletion was the most frequent genetic mutations for DMD/BMD [65.46% (127/194) and 74.29% (26/35)], respectively. Patients with a family history accounted for 23.14% (53/229). The rate of DMD registrants losing walking capability was 17.53% (34/194), and all the BMD registrants were able to walk. Cardiac functions were examined in 46.29% (106/229) DMD/BMD boys and respiratory functions were examined in 17.90% (41/229) DMD/BMD boys. The proportion of DMD patients receiving prednisone with dosage of 0.75 mg/(kg ⋅ d) was 26.29% (51/194). Conclusions This database describes in detail the genotype, clinical manifestation, diagnosis and treatment and rehabilitation status of 229 DMD/BMD patients in China. The database not only provides comprehensive information for DMD/BMD patient management, but also will make significant contribution to the development of clinical trials, prospective therapeutic research and better management of DMD/BMD patients and families in China. [ABSTRACT FROM AUTHOR]

The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups [Muscular Dystrophy Association (MDA), Parent Project Muscular Dystrophy (PPMD) and United Parent Projects Muscular Dystrophy (UPPMD)] and Translational Research in Europe: Assessment and Treatment of Neuromuscular Disease (TREAT-NMD) network. The main document was published in Lancet Neurol in 2010. The recommendations are based on an extensive study by 84 international experts in Duchenne muscular dystrophy (DMD) diagnosis and care who were chosen to represent a broad range of specialties. This guideline covers diagnostics, steroid treatment, rehabilitation, orthopedics, pulmonary, cardiac, gastrointestinal, psychosocial, surgical and emergency management of DMD. This guideline is recommended as the first choice by TREAT - NMD for DMD diagnosis and care. [ABSTRACT FROM AUTHOR]