Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterized primarily by progressive degeneration and necrosis of skeletal muscle, resulting from mutations in the Dystrophin gene. Patients with DMD typically present with progressive muscle weakness and atrophy during childhood. Currently, available treatment options for DMD remain limited and their efficacy is suboptimal. This review aims to provide a systematic overview of recent advances in therapeutic strategies for DMD, including an analysis of the mechanisms underlying various treatment approaches, outcomes from clinical trials, and their potential clinical applications, in order to inform and guide clinical decision-making.
Muscular Dystrophy, Duchenne/genetics* ; Humans ; Genetic Therapy

Duchenne muscular dystrophy (DMD) is an X-linked recessive myopathy caused by mutations in the dystrophin gene, which is divided into presymptomatic, early ambulatory, late ambulatory, early non-ambulatory, and late non-ambulatory stages according to its disease progression. Some patients experience non-progressive cognitive developmental delays in the presymptomatic stage. DMD patients gradually develop osteoporosis, cardiomyopathy, decreased respiratory function, delayed puberty, and gastrointestinal symptoms as the disease progresses. The required multidisciplinary management strategies vary across different disease stages. To standardize the multidisciplinary management of DMD, we established the DMD Guideline Writing Committee under the authorization of Chinese Medical Association Rare Disease Branch. Combined with the questions raised by patients in multiple consultations, neuromuscular experts drafted the DMD guidelines based on published clinical evidence, current practices, and expert recommendations. A consensus was reached on the best-practice recommendations for DMD management after extensive consultations with specialists from multiple relevant disciplines. The resulting recommendations have been endorsed by Chinese Medical Association Rare Disease Branch. This guideline provides practical and reasonable recommendations for all healthcare professionals and caregivers involved in DMD management, ensuring that patients can receive high-standard medical treatment and care across our country, which also serves as a reference for government staff involved in DMD management.
Humans ; Muscular Dystrophy, Duchenne/therapy* ; China

Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire. By compiling expertise of experts from the relevant areas and guidelines published home and abroad, this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques, testing strategies, and detection process for dystrophinopathies.
Humans ; Quality of Life ; Consensus ; Dystrophin/genetics* ; Muscular Dystrophy, Duchenne/therapy* ; Cardiomyopathy, Dilated/genetics* ; Electrocardiography

OBJECTIVE: To summarize the result of genetic testing and therapeutic prospect of 2042 unrelated Chinese pedigrees affected with Duchenne/Becker muscular dystrophy (DMD/BMD) from a single center from 2005 to 2019. METHODS: Peripheral blood samples of the pedigrees were collected for the detection of DMD gene variants with combined multiple ligation-dependent probe amplification (MLPA), next generation sequencing (NGS) and Sanger sequencing. RESULTS: DMD and BMD have respectively accounted for 78.60% and 21.40% of the pedigrees, which included 33 female probands. Variants of the DMD gene were detected in 1986 pedigrees (97.26%). Large deletions, duplications and small-scale mutations have respectively accounted for 71.85%, 8.76% and 19.39%. Common deletions and duplications have included deletion of exons 45-50 and duplications of exon 2, while no hot spot was found with small-scale mutations. For 1595 pedigrees affected with DMD, 935 (58.62%) were hereditary and 660 (41.38%) were de novo in origin. 34.28% (700/2042) of the patients had symptoms which could be relieved by gene therapy. CONCLUSION This has been the largest single-center study of DMD pedigrees, which has attained definite diagnosis in 97.26% of the patients. The results have enabled genetic counseling and prenatal diagnosis for the affected families upon their subsequent pregnancies, enriched the spectrum of DMD gene variants, as well as facilitated study of the mechanism of DMD gene mutations and exploration of clinical treatment.
China ; Dystrophin/genetics* ; Exons/genetics* ; Female ; Gene Deletion ; Genetic Testing ; Humans ; Muscular Dystrophy, Duchenne/therapy* ; Mutation ; Pedigree ; Pregnancy

OBJECTIVETo analyze the clinical features of 6 children with Duchenne muscular dystrophy (DMD) and review related literature, and to provide a basis for early diagnosis and effective treatment of this disease.

METHODSA retrospective analysis was performed on the clinical data of 6 children with DMD who were admitted to the First Affiliated Hospital of Nanjing Medical University from January 2010 to October 2015.

RESULTSAll the 6 cases were boys without a family history of DMD, and the age of diagnosis of DMD was 1.2-11.5 years. All patients had insidious onset and increases in alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, α-hydroxybutyrate dehydrogenase, creatine kinase (CK), and creatine kinase-MB, particularly CK, which was 3.3-107.2 times the normal level. Their gene detection results all showed DMD gene mutation. The gene detection results of two children's mothers showed that they carried the same mutant gene. The muscle biopsy in one case showed that the pathological changes confirmed the diagnosis of DMD. The level of CK in one case declined by 77.0% 5 days after umbilical cord blood mesenchymal stem cell transplantation.

CONCLUSIONSFor boys with abnormal serum enzyme levels and motor function, DMD should be highly suspected. It should be confirmed by CK and DMD gene detection as soon as possible. And the progression of the disease could be delayed by early intervention for protecting the remaining normal muscle fibers.

Child ; Child, Preschool ; Cord Blood Stem Cell Transplantation ; Creatine Kinase ; genetics ; Dystrophin ; genetics ; Humans ; Infant ; Male ; Muscular Dystrophy, Duchenne ; genetics ; therapy ; Retrospective Studies

Duchenne muscular dystrophy (DMD) is an X-linked, recessive and lethal genetic disease, which usually caused by gene mutations and the underlying mechanisms are complicated and diverse. The causal gene of DMD is the largest one in human that locates in the region of Xp21.2, encoding dystrophin. Currently there is no effective treatment for DMD patients. The treatment of DMD depends on gene mutation and molecular mechanism study of the disease, which requires reliable disease models such as mdx mouse model. Recently, researchers have increasingly discovered gene therapy strategies for DMD, and the efficacy has been demonstrated in DMD animal models. In addition, induced pluripotent stem cell technology can provide patient-specific cell source, offering a new platform for mechanism and therapy study of DMD.
Animals ; Disease Models, Animal ; Dystrophin ; genetics ; Genetic Therapy ; trends ; Humans ; Induced Pluripotent Stem Cells ; Mice ; Mice, Inbred mdx ; genetics ; Muscular Dystrophy, Duchenne ; genetics ; therapy

OBJECTIVE: To determine the abnormal pulmonary function value in Korean Duchenne muscular dystrophy (DMD) patients, we performed a comparative analysis of the patients' pulmonary function value expressed as % of the overseas reference data and Korean healthy children and adolescent reference data. METHODS: We performed pulmonary function test (PFT) in a total of 27 DMD patients. We compared the patients' FVC% and FEV1% of the overseas reference data with those of the Korean children and adolescent reference data. Also, we compared the patients' MIP% and MEP% of the prediction equation data with those of the Korean children and adolescent reference data. RESULTS: Age of the subjects ranged from 8 to 16 years (12.03±2.27 years). The mean maximal expiratory pressure (MEP), maximal inspiratory pressure (MIP), vital capacity (VC), forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and peak cough flow (PCF) were 36.93±9.5 cmH₂O, 45.79±17.46 cmH₂O, 1.4±0.43 L, 1.45±0.45 L, 1.40±0.41 L, and 206.25±61.21 L/min, respectively. The MIP%, MEP%, and FVC% of the Korean children and adolescent reference data showed statistically significant higher values than those of the prediction equation data. CONCLUSION: We observed a clear numeric difference between Korean DMD patients' pulmonary function value expressed as % of the overseas data and inland data. To perform a precise assessment of respiratory function and to determine appropriate respiratory therapy, pulmonary function values of Korean DMD patients should be interpreted taking into account the inland normal pulmonary function test data.
Adolescent ; Child ; Cough ; Forced Expiratory Volume ; Humans ; Muscular Dystrophy, Duchenne* ; Reference Values ; Respiratory Function Tests* ; Respiratory Therapy ; Vital Capacity

OBJECTIVE: To compare the changes in muscle enzyme between children with myocarditis and Duchene/Becker muscular dystrophy (DMD/BMD), and to seek the explanations for variation.
 METHODS: The retrospective analysis for 83 myocarditis children (myocarditis group) and 69 DMD/BMD children (DMD/BMD group), who were collected from Department of Pediatric of Shengjing Hospital affiliated to China Medical University since January 2008 to May 2015, was carried out. At the same time, 24 healthy children from the Department of Pediatric Development served as a control group. The examination indexes included creatine kinase (CK), creatine kinase-isoenzyme MB (CK-MB), creatine kinase isoenzyme MB mass (CK-MB mass), cardiac troponin I (cTnI) and high-sensitive-cTnT (hs-cTnT).
 RESULTS: 1) In the myocarditis group, the CK increased from 100 to 1 000 U/L, reached a peak after 5 days, which lasted for a week and then dropped to the normal; the CK-MB reached a peak after 5 to 7 days and dropped to the normal a month later; the CK-MB mass reached a peak on the first day and dropped to the normal after 3 weeks; the cTn reached to a peak after 5 days and dropped to the normal after about 17 days; hs-cTnT reached to a peak on the first day and dropped to the normal after about 19 days. 2) In the DMD/BMD group, the CK increased significantly and 27 cases had a CK value of more than 10 000 U/L. After the treatment for 1 to 2 weeks, their enzyme rose again after a slight drop. In terms of cTnI, 6 cases showed a moderate increase, 5 of them couldn't drop to the normal level until more than 3 weeks later; the hs-cTnT increased in the 45 cases, which lasted for more than 3 weeks in the 31 cases of them and showed a tendency of persisting increase.
 CONCLUSION The cTnI and hs-cTnT rise significantly and possess wider observation window than CK and CK-MB mass in myocarditis children, with more sensitive and specific changes. The myocardial damage can occur before myasthenia and keep this trend for a long time in the DMD/BMD children. The trend of cTnI change in myocarditis children is similar to hs-cTnT, while hs-cTnT in DMD/BMD children is more sensitive than cTnI.
Biomarkers ; Child ; China ; Creatine Kinase ; blood ; metabolism ; Creatine Kinase, MB Form ; blood ; metabolism ; Female ; Humans ; Male ; Muscle Weakness ; enzymology ; Muscular Dystrophy, Duchenne ; enzymology ; therapy ; Myocarditis ; enzymology ; therapy ; Retrospective Studies ; Time Factors ; Troponin I ; blood ; metabolism ; Troponin T ; blood ; metabolism

Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common X-linked recessive inherited neuromuscular disease, characterized by progressive muscle weakness. Mutations in the dystrophin gene are responsible for this disease. Treatment for this disease has always been a topic of interest. With the development of diagnosis and treatment technology of molecular biology, promising therapies have been developed. This review article summarizes the advance in traditional therapy, cell transplantation and gene therapy for this disease.
Genetic Therapy ; Glucocorticoids ; therapeutic use ; Humans ; Muscular Dystrophy, Duchenne ; therapy ; Stem Cell Transplantation

Glucocorticoids ; therapeutic use ; Humans ; Muscular Dystrophy, Duchenne ; drug therapy