ReviewFrontiers in pediatrics2023
Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications.
Review in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 35 citations in OpenAlex.
- A Multidisciplinary Approach to the Anesthetic Management of Patients With Duchenne Muscular Dystrophy.Pediatric pulmonology · 2026Review
- Report of the multistakeholder drug development round table meeting of the World Duchenne Organization focusing on challenges for clinical development of therapies.Journal of neuromuscular diseases · 2026Article
- Duchenne Muscular Dystrophy Under Three Years of Age.Children (Basel, Switzerland) · 2026Article
- Management of Duchenne Muscular Dystrophy in Clinical Practice: A Survey-Based Study in Spain.Neurology and therapy · 2026Article
- Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia.Healthcare (Basel, Switzerland) · 2026Article
- Upregulation of a CFTR mRNA isoform has therapeutic potential for the treatment of 3' CFTR PTC variants.Molecular therapy. Nucleic acids · 2026Article
- Corticosteroid therapy in Duchenne muscular dystrophy: Management and new insights.Developmental medicine and child neurology · 2026Article
- Early Cardiac Manifestations as the Initial Presentation of Duchenne Muscular Dystrophy in Infancy.Cureus · 2026Article
- Awareness of Duchenne muscular dystrophy among medical staff in China: a multicenter cross-sectional survey.Frontiers in pediatrics · 2026Article
- Assessing Delays in Time to Diagnosis of Duchenne Muscular Dystrophy: A Survey of Current Primary Care Practices.Cureus · 2025Article
- Prenatal genetic counselors' attitudes, beliefs, and practices with discussing postnatal Duchenne muscular dystrophy treatment options.Journal of genetic counseling · 2025Article
- Duchenne Muscular Dystrophy: Integrating Current Clinical Practice with Future Therapeutic and Diagnostic Horizons.International journal of molecular sciences · 2025Review
- Serum protein biomarker signature of Duchenne muscular dystrophy.European journal of translational myology · 2025Article
- Duchenne muscular dystrophy patients diagnosed at the asymptomatic stage: What are the benefits of early diagnosis?Turkish journal of physical medicine and rehabilitation · 2025Article
- Cardiac Fibroblasts: Helping or Hurting.Genes · 2025Review
- Perceptions of Healthcare Quality in Duchenne Muscular Dystrophy: A Patient Experience Exploratory Study.Healthcare (Basel, Switzerland) · 2025Article
- Correction to: Brain dystrophinopathies and cognitive impairment: Pathogenesis, diagnosis, and therapies.Journal of biosciences · 2025Article
- Feasibility and usability of a wearable sensor system for gait assessment in children with neuromuscular diseases.Frontiers in rehabilitation sciences · 2025Article
- Current Challenges of Using Patient-Level Claims and Electronic Health Record Data for the Longitudinal Evaluation of Duchenne Muscular Dystrophy Outcomes.Advances in therapy · 2024Article
- Chimeric Cell Therapies as a Novel Approach for Duchenne Muscular Dystrophy (DMD) and Muscle Regeneration.Biomolecules · 2024Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite the early onset of clinical signs suggestive of Duchenne muscular dystrophy (DMD), a diagnosis is often not made until four years of age or older, with a diagnostic delay of up to two years from the appearance of the first symptoms. As disease-modifying therapies for DMD become available that are ideally started early before irreversible muscle damage occurs, the importance of avoiding diagnostic delay increases. Shortening the time to a definite diagnosis in DMD allows timely genetic counseling and assessment of carrier status, initiation of multidisciplinary standard care, timely initiation of appropriate treatments, and precise genetic mutation characterization to assess suitability for access to drugs targeted at specific mutations while reducing the emotional and psychological family burden of the disease. This comprehensive literature review describes the early signs of impairment in DMD and highlights the bottlenecks related to the different diagnostic steps. In summary, the evidence suggests that the best mitigation strategy for improving the age at diagnosis is to increase awareness of the early symptoms of DMD and encourage early clinical screening with an inexpensive and sensitive serum creatine kinase test in all boys who present signs of developmental delay and specific motor test abnormality at routine pediatrician visits.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.