Breaking Barriers in Neuromuscular Diseases: Expanding Screening and Innovating Therapies

Neuromuscular diseases encompass a wide range of disorders characterized by progressive muscle weakness and dysfunction, resulting from abnormalities in the neuromuscular junction, muscles, or motor neurons. Over the past decade, there have been significant breakthroughs in the understanding and management of these diseases, primarily driven by advancements in genetic screening and therapy. Expanded neonatal screening programs now enable the early identification of many neuromuscular conditions, leading to more timely interventions that can dramatically improve long-term outcomes. Furthermore, innovative therapies, including gene therapies, have emerged as powerful tools in the treatment of previously untreatable conditions. These advances have not only changed the trajectory of many diseases but have also sparked new research into personalized medicine and multidisciplinary treatment approaches. This Research Topic will examine the current state of these innovations, their clinical implications, and their potential for further development.The goal of this Research Topic is to explore the latest advances in the field of neuromuscular diseases, with a particular focus on the significant progress made in neonatal screening programs, novel therapeutic approaches, and the emergence of gene therapies that are reshaping the prognosis for diseases such as Spinal Muscular Atrophy (SMA), muscular dystrophies, and other neuromuscular disorders. By focusing on expanded neonatal screening and innovative treatments, this Research Topic aims to highlight the transformative potential of early diagnosis and tailored therapies in improving patient outcomes. Additionally, we aim to explore the integration of cutting-edge scientific innovations with clinical practice, focusing on the impact of these breakthroughs on patient quality of life and long-term disease management.Highlight breakthroughs in neonatal screening, gene therapies, and novel interventions that are reshaping outcomes for neuromuscular diseases. Emphasize how early, precise diagnosis and personalized, multidisciplinary care can significantly improve long-term prognosis.This Research Topic accepts all article types in scope with the description and focusing on the following:• Expanded Neonatal Screening: Show how early detection (e.g., SMA, Duchenne) affects outcomes and health systems.• Innovative Therapies: Examine emerging treatments—gene therapies, gene editing, and other modalities—focusing on mechanisms, challenges, and future directions.• Gene Therapies: Address scientific, clinical, and ethical considerations of gene-based interventions that may alter disease trajectories.• Personalized and Multidisciplinary Care: Integrate genetics, neurology, pediatrics, and rehabilitation for individualized treatment.• Quality of Life & Long-Term Management: Explore the impact on patient well-being, including psychosocial aspects and the role of multidisciplinary teams. Topic editors: Raffaele Falsaperla, ENRICO PARANO, Agata Polizzi, Martino Ruggieri Source: https://www.frontiersin.org/research-topics/70662/breaking-barriers-in-neuromuscular-diseases-expanding-screening-and-innovating-therapies