Recent studies have significantly advanced our understanding of muscular dystrophies, particularly Duchenne muscular dystrophy (DMD) and oculopharyngeal muscular dystrophy (OPMD). A randomized clinical trial by Guglieri et al. compared different corticosteroid dosing regimens in boys with DMD, revealing that daily corticosteroid regimens yield better clinical outcomes than intermittent regimens, thus supporting their use as initial treatment (ref: Guglieri doi.org/10.1001/jama.2022.4315/). Additionally, Kim et al. identified heterozygous frameshift variants in HNRNPA2B1 as causative for early-onset OPMD, highlighting the role of RNA-binding proteins in muscular dystrophies (ref: Kim doi.org/10.1038/s41467-022-30015-1/). Tokuoka et al. demonstrated that CDP-ribitol prodrug treatment can ameliorate muscular dystrophy in ISPD-deficient mouse models, indicating potential therapeutic strategies targeting ribitol-phosphate modification (ref: Tokuoka doi.org/10.1038/s41467-022-29473-4/). These findings collectively underscore the importance of genetic and biochemical pathways in developing effective treatments for muscular dystrophies. Contradictory to the focus on genetic mutations, Delaval et al. explored the impact of recovery strategies in professional football, linking perceived fatigue and muscle soreness to noncontact injuries, thus emphasizing the role of physical stressors in muscle health (ref: Delaval doi.org/10.1123/ijspp.2021-0504/).

The immune response plays a critical role in muscle regeneration, as evidenced by recent studies. Mann et al. highlighted the beneficial role of IL-17A-producing γδT cells in promoting muscle recovery post-injury, suggesting a microbiota-dependent mechanism that enhances tissue repair (ref: Mann doi.org/10.1084/jem.20211504/). In contrast, Larouche et al. reported that imbalances in neutrophil and natural killer cell populations hinder muscle stem cell-mediated regeneration following volumetric muscle loss, indicating that immune dysregulation can lead to poor recovery outcomes (ref: Larouche doi.org/10.1073/pnas.2111445119/). These studies illustrate the dual role of immune cells in muscle repair, where certain populations can facilitate recovery while others may impede it. Furthermore, the exploration of anti-MDA5 antibodies in dermatomyositis-associated interstitial lung disease by Xu et al. revealed that specific IgG subclasses correlate with patient mortality, emphasizing the importance of immune markers in predicting disease outcomes (ref: Xu doi.org/10.1093/rheumatology/). Together, these findings underscore the complexity of immune interactions in muscle regeneration and the potential for targeted therapies.

Clinical trials have been pivotal in evaluating new treatment approaches for muscular dystrophies and related conditions. The phase 2 trial by Kindler et al. compared anetumab ravtansine with vinorelbine in patients with malignant pleural mesothelioma, demonstrating the potential of antibody-drug conjugates in treating this challenging cancer (ref: Kindler doi.org/10.1016/S1470-2045(22)00061-4/). In the context of muscular dystrophies, Guglieri et al.'s study on corticosteroid regimens for DMD further supports the need for optimized treatment protocols to enhance patient outcomes (ref: Guglieri doi.org/10.1001/jama.2022.4315/). Tokuoka et al. also contributed to this theme by showing that CDP-ribitol prodrug treatment can effectively ameliorate muscular dystrophy in mouse models, indicating a promising avenue for therapeutic intervention (ref: Tokuoka doi.org/10.1038/s41467-022-29473-4/). Additionally, Drovandi et al. provided insights into the clinical spectrum of Coenzyme Q10 deficiency, emphasizing the importance of comprehensive patient data in understanding disease variability and treatment responses (ref: Drovandi doi.org/10.1016/j.kint.2022.02.040/). These studies collectively highlight the ongoing efforts to refine treatment strategies through rigorous clinical evaluation.

The genetic landscape of myopathies has been further elucidated through recent research, revealing critical molecular mechanisms underlying various conditions. Kim et al. identified frameshift variants in HNRNPA2B1 as causative for early-onset OPMD, emphasizing the role of RNA-binding proteins in muscular dystrophies (ref: Kim doi.org/10.1038/s41467-022-30015-1/). Tokuoka et al. demonstrated that prodrug treatments targeting ribitol-phosphate modification can ameliorate muscular dystrophy in ISPD-deficient models, highlighting the potential for biochemical interventions (ref: Tokuoka doi.org/10.1038/s41467-022-29473-4/). Ferrero et al. conducted a systematic review on the cognitive profiles in Becker muscular dystrophy, revealing significant gaps in understanding the neuropsychiatric aspects of this condition (ref: Ferrero doi.org/10.1016/j.neubiorev.2022.104648/). Furthermore, Soliman et al. explored the role of the antiapoptotic protein FAIM2 in myogenesis, showing that its overexpression can rescue differentiation defects caused by DUX4, a key factor in facioscapulohumeral muscular dystrophy (ref: Soliman doi.org/10.1038/s41419-022-04804-x/). These findings underscore the intricate interplay between genetic mutations and molecular pathways in myopathies, paving the way for targeted therapeutic strategies.

The metabolic and physiological responses to exercise and disease have been a focus of recent investigations, particularly in populations with myopathies. Germain et al. conducted a study on plasma metabolomics in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), revealing disrupted metabolic responses following maximal exercise, which is a hallmark of the condition (ref: Germain doi.org/10.1172/jci.insight.157621/). Batrakoulis et al. performed a network meta-analysis to compare the efficacy of various exercise modalities on cardiometabolic health in overweight and obese adults, finding that combined training was the most effective approach (ref: Batrakoulis doi.org/10.1161/CIRCOUTCOMES.121.008243/). Additionally, Altaş et al. compared Kinesio Taping and dry needling for lateral epicondylitis, demonstrating significant improvements in pain and functional status, which may have implications for rehabilitation strategies in myopathy patients (ref: Altaş doi.org/10.1016/j.jse.2022.03.010/). These studies collectively highlight the importance of understanding metabolic responses and exercise interventions in managing myopathies and improving patient outcomes.

Advancements in diagnostic tools and biomarkers are crucial for improving the management of myopathies. Yépez et al. discussed the clinical implementation of RNA sequencing for diagnosing Mendelian diseases, emphasizing the need for functional evidence to interpret genetic variants effectively (ref: Yépez doi.org/10.1186/s13073-022-01019-9/). In the context of ME/CFS, Cox et al. identified the role of EBV and HHV-6A in disease pathophysiology, linking viral infections to immune dysregulation and highlighting potential biomarkers for diagnosis (ref: Cox doi.org/10.1172/jci.insight.158193/). Xu et al. evaluated the prognostic value of anti-MDA5 IgG subclasses in dermatomyositis-associated interstitial lung disease, finding significant associations with patient mortality, thus establishing important biomarkers for clinical outcomes (ref: Xu doi.org/10.1093/rheumatology/). Kakouri et al. utilized next-generation sequencing to differentiate subtypes of muscular dystrophies based on circulating small RNA signatures, showcasing the potential for non-invasive diagnostic approaches (ref: Kakouri doi.org/10.1080/15476286.2022.2058817/). These studies underscore the evolving landscape of diagnostic methodologies and the importance of identifying reliable biomarkers for effective disease management.

Exercise and rehabilitation strategies are essential components in the management of myopathies, with recent studies highlighting their efficacy. Batrakoulis et al. conducted a systematic review and network meta-analysis that evaluated the comparative efficacy of five exercise types on cardiometabolic health in overweight and obese adults, concluding that combined training was the most effective modality (ref: Batrakoulis doi.org/10.1161/CIRCOUTCOMES.121.008243/). Altaş et al. compared Kinesio Taping and dry needling for lateral epicondylitis, demonstrating significant improvements in pain and functional status, which may be applicable to rehabilitation protocols for myopathy patients (ref: Altaş doi.org/10.1016/j.jse.2022.03.010/). Delaval et al. explored recovery strategies in professional football, linking sleep quantity and perceived fatigue to injury risk, thus emphasizing the importance of recovery in athletic populations (ref: Delaval doi.org/10.1123/ijspp.2021-0504/). Wille et al. investigated the association between eccentric hamstring strength and hamstring strain injuries, finding no significant relationship, which raises questions about traditional rehabilitation approaches (ref: Wille doi.org/10.1249/MSS.0000000000002913/). These findings collectively highlight the need for tailored exercise interventions and rehabilitation strategies to optimize outcomes for individuals with myopathies.

The psychosocial aspects of myopathies are increasingly recognized as critical components of patient care. Ferrero et al. conducted a systematic review on cognitive profiles and neuropsychiatric disorders in Becker muscular dystrophy, revealing significant gaps in understanding the psychosocial functioning of affected individuals (ref: Ferrero doi.org/10.1016/j.neubiorev.2022.104648/). Stadelmann et al. explored mRNA-mediated delivery of gene editing tools to muscle stem cells, emphasizing the potential for gene therapy to address not only physical but also psychological burdens associated with muscular dystrophies (ref: Stadelmann doi.org/10.1016/j.omtn.2022.02.016/). Villar-Quiles et al. examined the phenotypical variability in Andersen-Tawil syndrome, highlighting the diverse presentations and the need for comprehensive care that addresses both physical and psychological aspects (ref: Villar-Quiles doi.org/10.1111/ene.15369/). These studies underscore the importance of integrating psychosocial support into the management of myopathies to enhance overall patient well-being.