Pub Date : 2025-12-01DOI: 10.1016/S0929-693X(25)00252-0
Nathalie Angeard
Pediatric neuromuscular disorders constitute a highly heterogeneous group of over 200 distinct conditions, varying in etiology, affected structures (e.g., peripheral motor neurons, neuromuscular junction, or muscle tissue), central nervous system involvement, age of onset, severity, and progression. Among these, Duchenne muscular dystrophy (DMD) is the most common and extensively studied genetic neuromuscular disorder in childhood. Increasing evidence suggests that DMD is not solely a motor condition but also involves a distinct neuropsychological phenotype, frequently characterized by cognitive impairments and comorbid neurodevelopmental disorders. This article provides a comprehensive review of the neuropsychological profile associated with DMD, with particular emphasis on language, memory, executive functions, and social cognition. The developmental trajectory of these domains is discussed in light of recent findings, including genotype–phenotype correlations. Furthermore, we offer recommendations for systematic neuropsychological assessment and screening for early non-motor symptoms, and propose emerging intervention strategies to support cognitive development in individuals with DMD.
{"title":"Neuropsychological management in Duchenne muscular dystrophy: A critical overview and future directions","authors":"Nathalie Angeard","doi":"10.1016/S0929-693X(25)00252-0","DOIUrl":"10.1016/S0929-693X(25)00252-0","url":null,"abstract":"<div><div>Pediatric neuromuscular disorders constitute a highly heterogeneous group of over 200 distinct conditions, varying in etiology, affected structures (e.g., peripheral motor neurons, neuromuscular junction, or muscle tissue), central nervous system involvement, age of onset, severity, and progression. Among these, Duchenne muscular dystrophy (DMD) is the most common and extensively studied genetic neuromuscular disorder in childhood. Increasing evidence suggests that DMD is not solely a motor condition but also involves a distinct neuropsychological phenotype, frequently characterized by cognitive impairments and comorbid neurodevelopmental disorders. This article provides a comprehensive review of the neuropsychological profile associated with DMD, with particular emphasis on language, memory, executive functions, and social cognition. The developmental trajectory of these domains is discussed in light of recent findings, including genotype–phenotype correlations. Furthermore, we offer recommendations for systematic neuropsychological assessment and screening for early non-motor symptoms, and propose emerging intervention strategies to support cognitive development in individuals with DMD.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 7S39-7S44"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01DOI: 10.1016/S0929-693X(25)00254-4
V. Laugel
Duchenne muscular dystrophy (DMD) is a severe X-linked myopathy caused by mutations in the DMD gene, resulting in the absence of functional dystrophin. Gene therapy seems to represent a rational therapeutic strategy, aiming to restore dystrophin expression through delivery of engineered microdystrophin constructs using adeno-associated virus (AAV) vectors. Preclinical studies in murine and canine models demonstrated robust dystrophin restoration, histological improvement, and functional benefit, supporting the transition to clinical trials. Over the past decade, five AAV-microdystrophin programs have entered large-scale human testing. In 2023, delandistrogene moxeparvovec (Sarepta/Roche) received accelerated approval from the U.S. Food and Drug Administration for ambulatory pediatric patients, marking the first regulatory authorization of a gene therapy for DMD. By contrast, fordadistrogene movaparvovec (Pfizer) showed encouraging biomarker results but was associated with immune-mediated serious adverse events, including thrombotic microangiopathy cases and patient deaths due to acute liver failure, ultimately leading to program discontinuation. Other investigational candidates—GNT0004 (Généthon), SGT-003 (Solid Biosciences), and RGX-202 (Regenxbio)—incorporate distinct promoter designs and microdystrophin cassettes and are currently in early- to mid-phase evaluation. Key issues include immunogenicity against AAV capsids and transgene products, durability of expression, and the need for re-dosing or combinatorial strategies. Gene therapy management also raises difficult economic and logistical challenges for healthcare systems. Balancing rapid patient access to potentially disease-modifying therapies with rigorous scientific and regulatory standards is essential to ensure safe and durable benefit for individuals with DMD.
{"title":"Gene therapy in Duchenne muscular dystrophy","authors":"V. Laugel","doi":"10.1016/S0929-693X(25)00254-4","DOIUrl":"10.1016/S0929-693X(25)00254-4","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a severe X-linked myopathy caused by mutations in the <em>DMD</em> gene, resulting in the absence of functional dystrophin. Gene therapy seems to represent a rational therapeutic strategy, aiming to restore dystrophin expression through delivery of engineered microdystrophin constructs using adeno-associated virus (AAV) vectors. Preclinical studies in murine and canine models demonstrated robust dystrophin restoration, histological improvement, and functional benefit, supporting the transition to clinical trials. Over the past decade, five AAV-microdystrophin programs have entered large-scale human testing. In 2023, delandistrogene moxeparvovec (Sarepta/Roche) received accelerated approval from the U.S. Food and Drug Administration for ambulatory pediatric patients, marking the first regulatory authorization of a gene therapy for DMD. By contrast, fordadistrogene movaparvovec (Pfizer) showed encouraging biomarker results but was associated with immune-mediated serious adverse events, including thrombotic microangiopathy cases and patient deaths due to acute liver failure, ultimately leading to program discontinuation. Other investigational candidates—GNT0004 (Généthon), SGT-003 (Solid Biosciences), and RGX-202 (Regenxbio)—incorporate distinct promoter designs and microdystrophin cassettes and are currently in early- to mid-phase evaluation. Key issues include immunogenicity against AAV capsids and transgene products, durability of expression, and the need for re-dosing or combinatorial strategies. Gene therapy management also raises difficult economic and logistical challenges for healthcare systems. Balancing rapid patient access to potentially disease-modifying therapies with rigorous scientific and regulatory standards is essential to ensure safe and durable benefit for individuals with DMD.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 7S52-7S57"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01DOI: 10.1016/S0929-693X(25)00251-9
Mathilde Gaumé , Vincent Cunin , Carole Vuillerot
This article provides a comprehensive overview of the orthopedic management strategies in Duchenne muscular dystrophy (DMD). DMD manifests with severe muscle wasting, respiratory insufficiency, and cardiomyopathy, with initial symptoms emerging in early childhood. By the age of 10–12 years, most patients require wheelchairs due to muscle degeneration, which often leads to spinal deformities and joint contractures. The absence of dystrophin causes the breakdown of the dystrophin glycoprotein complex, causingmuscle degeneration, necrosis, and fibrosis. Current treatments focus on symptom management, including physical therapy, corticosteroids, orthopedic surgery, ventilatory and nutritional support, and cardiac care. Long-term glucocorticoid therapy can extend mobility and life expectancy, delay the need for ventilation, and reduce the rates of scoliosis surgery. Orthopedic care focuses on prevention to preserve motor function and bone health and involves an interdisciplinary team, early use of orthotic devices, and promotion of proper posture. Common deformities include varus equinus, hip flexor retractions, scoliosis, and pelvic obliquity. Scoliosis management involves posterior fusion surgery extended to the pelvis or limited to the L5 vertebra. Preoperative evaluation should include assessing the risk of hip flexion contracture decompensation following arthrodesis. There now seems to be increasing consensus favoring lower extremity surgery only in exceptional cases. This shift is due to the limited success of surgery, with frequent recurrence of muscle retractions and minimal expected benefits. Fracture management involves bisphosphonate therapy post-fracture, with vertebral compression and lower limb fracture being the most prevalent.
{"title":"Orthopedic management in Duchenne muscular dystrophy","authors":"Mathilde Gaumé , Vincent Cunin , Carole Vuillerot","doi":"10.1016/S0929-693X(25)00251-9","DOIUrl":"10.1016/S0929-693X(25)00251-9","url":null,"abstract":"<div><div>This article provides a comprehensive overview of the orthopedic management strategies in Duchenne muscular dystrophy (DMD). DMD manifests with severe muscle wasting, respiratory insufficiency, and cardiomyopathy, with initial symptoms emerging in early childhood. By the age of 10–12 years, most patients require wheelchairs due to muscle degeneration, which often leads to spinal deformities and joint contractures. The absence of dystrophin causes the breakdown of the dystrophin glycoprotein complex, causingmuscle degeneration, necrosis, and fibrosis. Current treatments focus on symptom management, including physical therapy, corticosteroids, orthopedic surgery, ventilatory and nutritional support, and cardiac care. Long-term glucocorticoid therapy can extend mobility and life expectancy, delay the need for ventilation, and reduce the rates of scoliosis surgery. Orthopedic care focuses on prevention to preserve motor function and bone health and involves an interdisciplinary team, early use of orthotic devices, and promotion of proper posture. Common deformities include varus equinus, hip flexor retractions, scoliosis, and pelvic obliquity. Scoliosis management involves posterior fusion surgery extended to the pelvis or limited to the L5 vertebra. Preoperative evaluation should include assessing the risk of hip flexion contracture decompensation following arthrodesis. There now seems to be increasing consensus favoring lower extremity surgery only in exceptional cases. This shift is due to the limited success of surgery, with frequent recurrence of muscle retractions and minimal expected benefits. Fracture management involves bisphosphonate therapy post-fracture, with vertebral compression and lower limb fracture being the most prevalent.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 7S32-7S38"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01DOI: 10.1016/S0929-693X(25)00246-5
Helge Amthor , Aurélie Avril , France Leturcq
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder caused by mutations in the DMD gene located on the Xp21.2–Xp21.1 region of the X chromosome. This gene encodes dystrophin, a cytoskeletal protein that is critical for the stability of muscle fibers. With an incidence of approximately 1 in 5,000 males, DMD is the most common form of inherited muscular dystrophy in childhood. The DMD gene produces multiple tissue-specific dystrophin isoforms. Absence of the full-length Dp427 isoform leads to DMD, while residual expression results in milder phenotypes, such as Becker muscular dystrophy (BMD). Mostmutations are intragenic deletions, and the reading-frame rule predicts disease severity: Out-of-frame mutations abolish dystrophin synthesis, whereas in-frame deletions produce partially functional proteins. Dystrophin anchors the cytoskeleton to the dystrophin-associated protein complex (DAPC), linking contractile elements to the extracellular matrix. Loss of dystrophin disrupts sarcolemmal stability, leading to calcium influx, mitochondrial dysfunction, oxidative stress, and myofiber necrosis. This is followed by inflammation, fibrosis, and fatty infiltration. The mislocalization of neuronal nitric oxide synthase (nNOS) and reduced vascular endothelial growth factor (VEGF) impair vasoregulation and exacerbate ischemic injury. Brain involvement results from the loss of the Dp427, Dp140, and Dp71 dystrophin isoforms, which regulate synaptic and glial membrane architecture. The deficiency of these proteins contributes to cognitive impairment through disrupted GABAergic signaling, altered neurovascular function, and an imbalance in neuronal excitatory–inhibitory transmission.
{"title":"Genetics and pathophysiology of Duchenne muscular dystrophy","authors":"Helge Amthor , Aurélie Avril , France Leturcq","doi":"10.1016/S0929-693X(25)00246-5","DOIUrl":"10.1016/S0929-693X(25)00246-5","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder caused by mutations in the <em>DMD</em> gene located on the Xp21.2–Xp21.1 region of the X chromosome. This gene encodes dystrophin, a cytoskeletal protein that is critical for the stability of muscle fibers. With an incidence of approximately 1 in 5,000 males, DMD is the most common form of inherited muscular dystrophy in childhood. The <em>DMD</em> gene produces multiple tissue-specific dystrophin isoforms. Absence of the full-length Dp427 isoform leads to DMD, while residual expression results in milder phenotypes, such as Becker muscular dystrophy (BMD). Mostmutations are intragenic deletions, and the reading-frame rule predicts disease severity: Out-of-frame mutations abolish dystrophin synthesis, whereas in-frame deletions produce partially functional proteins. Dystrophin anchors the cytoskeleton to the dystrophin-associated protein complex (DAPC), linking contractile elements to the extracellular matrix. Loss of dystrophin disrupts sarcolemmal stability, leading to calcium influx, mitochondrial dysfunction, oxidative stress, and myofiber necrosis. This is followed by inflammation, fibrosis, and fatty infiltration. The mislocalization of neuronal nitric oxide synthase (nNOS) and reduced vascular endothelial growth factor (VEGF) impair vasoregulation and exacerbate ischemic injury. Brain involvement results from the loss of the Dp427, Dp140, and Dp71 dystrophin isoforms, which regulate synaptic and glial membrane architecture. The deficiency of these proteins contributes to cognitive impairment through disrupted GABAergic signaling, altered neurovascular function, and an imbalance in neuronal excitatory–inhibitory transmission.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 7S3-7S9"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145739243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01DOI: 10.1016/S0929-693X(25)00248-9
Juliette Ropars , Emmanuelle Salort-Campana
Duchenne muscular dystrophy (DMD) is a severe, progressive neuromuscular disorder characterized by muscle degeneration and weakness, leading to significant physical disability and multisystem complications. The management of DMD requires a coordinated, multidisciplinary approach to address the evolving needs of patients from childhood through adulthood, with a focus on patient quality of life. Early diagnosis and proactive interventions are critical to optimizing outcomes and may include physical therapy, respiratory support, cardiac monitoring, and orthopedic care. In children, the focus is on preserving mobility, managing scoliosis, preventing cardiac and respiratory complications, and ensuring access to education and psychosocial support. As patients transition to adulthood, the challenges shift to maintaining independence, managing advanced respiratory and cardiac complications, and addressing vocational and social integration. Transition programs must be carefully planned to bridge pediatric and adult care systems, ensuring continuity and minimizing gaps in care. Adult care involves specialized teams to manage complex medical needs, including advanced respiratory support, cardiomyopathy, and palliative care. Anticipatory directives play a crucial role in aligningmedical interventions with patient and family preferences, particularly in advanced stages of the disease. This article outlines the principles of multidisciplinary care for DMD, emphasizing the importance of tailored interventions at each life stage, the challenges of transition, and the ethical considerations of anticipatory planning. By integrating medical, psychosocial, and rehabilitative strategies, healthcare providers can improve the quality of life and longevity of individuals with DMD.
{"title":"Multidisciplinary management of Duchenne muscular dystrophy from childhood to adulthood","authors":"Juliette Ropars , Emmanuelle Salort-Campana","doi":"10.1016/S0929-693X(25)00248-9","DOIUrl":"10.1016/S0929-693X(25)00248-9","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a severe, progressive neuromuscular disorder characterized by muscle degeneration and weakness, leading to significant physical disability and multisystem complications. The management of DMD requires a coordinated, multidisciplinary approach to address the evolving needs of patients from childhood through adulthood, with a focus on patient quality of life. Early diagnosis and proactive interventions are critical to optimizing outcomes and may include physical therapy, respiratory support, cardiac monitoring, and orthopedic care. In children, the focus is on preserving mobility, managing scoliosis, preventing cardiac and respiratory complications, and ensuring access to education and psychosocial support. As patients transition to adulthood, the challenges shift to maintaining independence, managing advanced respiratory and cardiac complications, and addressing vocational and social integration. Transition programs must be carefully planned to bridge pediatric and adult care systems, ensuring continuity and minimizing gaps in care. Adult care involves specialized teams to manage complex medical needs, including advanced respiratory support, cardiomyopathy, and palliative care. Anticipatory directives play a crucial role in aligningmedical interventions with patient and family preferences, particularly in advanced stages of the disease. This article outlines the principles of multidisciplinary care for DMD, emphasizing the importance of tailored interventions at each life stage, the challenges of transition, and the ethical considerations of anticipatory planning. By integrating medical, psychosocial, and rehabilitative strategies, healthcare providers can improve the quality of life and longevity of individuals with DMD.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 7S15-7S19"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145739242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The French Dystrophinopathies Registry (DYS Registry) addresses the specific need for a clinical database of neuromuscular diseases (NMDs). It sponsored the joint development of a portal that would be common to allNMDs. The NMD portal and the first database pilot, the DYS Registry, were launched into production inMarch 2019. A total of 459 items have been thoroughly validated by the board of experts and the COPIL, enabling completion of the following categories: (1) early symptoms and diagnostic assessments; (2) genetic diagnosis; (3)muscle biopsy studies; (4) clinical assessments including motor functional measures (6-Minute Walk Test, Motor Function Measure [MFM], North Star Ambulatory Assessment [NSAA]), cognitive function and neuropsychological events, cardiac function and respiratory function; (5) follow-up including general clinical data, functional measures (motor, respiratory, and cardiac), ventilatory support, cardiac therapy, orthopedic surgery; (6) muscle biopsy or fibroblast samples; (7) inclusion in clinical trials.
{"title":"Duchenne muscular dystrophy: the French Dystrophinopathies Registry (DYS Registry)","authors":"Isabelle Desguerre , Romain Glandier , Julie Lejeune , Rabah Ben Yaou , France Leturcq , Sylvie Tuffery-Giraud , Karim Wahbi , Filnemus Networkc","doi":"10.1016/S0929-693X(25)00247-7","DOIUrl":"10.1016/S0929-693X(25)00247-7","url":null,"abstract":"<div><div>The French Dystrophinopathies Registry (DYS Registry) addresses the specific need for a clinical database of neuromuscular diseases (NMDs). It sponsored the joint development of a portal that would be common to allNMDs. The NMD portal and the first database pilot, the DYS Registry, were launched into production inMarch 2019. A total of 459 items have been thoroughly validated by the board of experts and the COPIL, enabling completion of the following categories: (1) early symptoms and diagnostic assessments; (2) genetic diagnosis; (3)muscle biopsy studies; (4) clinical assessments including motor functional measures (6-Minute Walk Test, Motor Function Measure [MFM], North Star Ambulatory Assessment [NSAA]), cognitive function and neuropsychological events, cardiac function and respiratory function; (5) follow-up including general clinical data, functional measures (motor, respiratory, and cardiac), ventilatory support, cardiac therapy, orthopedic surgery; (6) muscle biopsy or fibroblast samples; (7) inclusion in clinical trials.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 7S10-7S14"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145739244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01DOI: 10.1016/S0929-693X(25)00256-8
France Leturcq , Camille Verebi , Juliette Nectoux
Genetic counseling is a communication process in which qualified professionals help individuals to understand and consider the medical, psychosocial, and family implications of a disease. In the case of Duchenne muscular dystrophy (DMD), a severe and progressive muscle-wasting X-linked disease, genetic counseling can help to diagnose female carriers, assess the risks for offspring, and discuss the various possibilities for having an unaffected son. Invasive prenatal diagnosis is usually offered to at-risk couples, but preimplantation diagnosis is also an option. Noninvasive diagnosis, based on the presence of fetal DNA in maternal blood, is developing rapidly and will further reduce the emotional and logistical burden associated with invasive approaches. Finally, various programs around the world are focusing on newborn screening for DMD, enabling children at risk of developing the most commonand severe form of childhood muscular dystrophy to be screened at birth.
{"title":"Genetic counseling, prenatal diagnosis and newborn screening in Duchenne muscular dystrophy","authors":"France Leturcq , Camille Verebi , Juliette Nectoux","doi":"10.1016/S0929-693X(25)00256-8","DOIUrl":"10.1016/S0929-693X(25)00256-8","url":null,"abstract":"<div><div>Genetic counseling is a communication process in which qualified professionals help individuals to understand and consider the medical, psychosocial, and family implications of a disease. In the case of Duchenne muscular dystrophy (DMD), a severe and progressive muscle-wasting X-linked disease, genetic counseling can help to diagnose female carriers, assess the risks for offspring, and discuss the various possibilities for having an unaffected son. Invasive prenatal diagnosis is usually offered to at-risk couples, but preimplantation diagnosis is also an option. Noninvasive diagnosis, based on the presence of fetal DNA in maternal blood, is developing rapidly and will further reduce the emotional and logistical burden associated with invasive approaches. Finally, various programs around the world are focusing on newborn screening for DMD, enabling children at risk of developing the most commonand severe form of childhood muscular dystrophy to be screened at birth.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 7S64-7S69"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01DOI: 10.1016/S0929-693X(25)00255-6
Helge Amthor
Over the past three decades, new therapeutic strategies have been developed to treat Duchenne muscular dystrophy (DMD). These strategies aim to correct the primary genetic defect, compensate for secondary pathological changes resulting from muscular dystrophy, or stimulate skeletal muscle growth and regeneration to overcome muscle wasting. This article discusses three concepts currently being tested on patients with DMD: strategies for restoring dystrophin, next-generation pharmacological agents, and cell therapy.
{"title":"Other innovative therapies in Duchenne muscular dystrophy","authors":"Helge Amthor","doi":"10.1016/S0929-693X(25)00255-6","DOIUrl":"10.1016/S0929-693X(25)00255-6","url":null,"abstract":"<div><div>Over the past three decades, new therapeutic strategies have been developed to treat Duchenne muscular dystrophy (DMD). These strategies aim to correct the primary genetic defect, compensate for secondary pathological changes resulting from muscular dystrophy, or stimulate skeletal muscle growth and regeneration to overcome muscle wasting. This article discusses three concepts currently being tested on patients with DMD: strategies for restoring dystrophin, next-generation pharmacological agents, and cell therapy.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 7S58-7S63"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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