The genetic landscape of myopathies has been significantly advanced through large-scale genomic studies. A notable contribution is the work by Laurie et al., which involved the Solve-Rare Diseases Consortium, where a systematic reanalysis of genomic data from 6,447 individuals led to new diagnoses in 506 families (8.4% diagnostic yield) (ref: Laurie doi.org/10.1038/s41591-024-03420-w/). This study highlights the importance of collaborative efforts in genetic diagnosis, emphasizing the need for comprehensive genomic resources. In the context of Huntington's disease, Scahill et al. explored somatic CAG repeat expansions in blood samples from individuals decades before clinical diagnosis, revealing no significant cognitive decline over 4.5 years, suggesting that somatic expansion may not directly correlate with early neurodegenerative changes (ref: Scahill doi.org/10.1038/s41591-024-03424-6/). Furthermore, advancements in gene-editing technologies were demonstrated by Escobar et al., who successfully rescued dysferlin expression in dysferlin-deficient muscular dystrophy using CRISPR in patient-derived muscle stem cells, showcasing the potential for targeted genetic therapies (ref: Escobar doi.org/10.1038/s41467-024-55086-0/). Additionally, Garcia-Guerra et al. introduced innovative CRISPR activity modulation via miRNA-sensing guide RNAs, which could enhance the specificity of gene editing in therapeutic applications (ref: Garcia-Guerra doi.org/10.1093/nar/). Lastly, Millozzi et al. developed a novel delivery system using aptamer-conjugated gold nanoparticles to facilitate oligonucleotide delivery into muscle stem cells, addressing a critical barrier in muscular dystrophy therapies (ref: Millozzi doi.org/10.1038/s41467-024-55223-9/).

Recent clinical trials have focused on innovative therapeutic interventions for various myopathies, particularly dermatomyositis and myasthenia gravis. Fiorentino et al. conducted a phase 2 trial of dazukibart, an IFNβ-specific monoclonal antibody, demonstrating significant improvements in skin disease activity, with a placebo-adjusted difference of -16.73 in the CDASI-A score at week 12 for the 600 mg group (ref: Fiorentino doi.org/10.1016/S0140-6736(24)02071-3/). This study underscores the potential of targeted biologic therapies in managing dermatomyositis. In the realm of myasthenia gravis, Antozzi et al. evaluated nipocalimab in a phase 3 trial, reporting a significant reduction in MG-ADL scores compared to placebo, indicating its efficacy in long-term disease control (ref: Antozzi doi.org/10.1016/S1474-4422(24)00498-8/). Furthermore, Xing et al. explored tofacitinib's effects in dermatomyositis and anti-synthetase syndrome, finding notable reductions in disease activity and specific immune cell populations, suggesting a promising avenue for treatment (ref: Xing doi.org/10.1093/rheumatology/). Provenzano et al. introduced the Myotonic Dystrophy Splice Index as a potential biomarker for muscle weakness in myotonic dystrophy type 1, which could aid in assessing therapeutic responses (ref: Provenzano doi.org/10.1172/JCI185426/). Lastly, Dunn et al. highlighted the importance of congenital cytomegalovirus screening, revealing that 0.13% of screened infants tested positive, emphasizing the need for early detection to prevent long-term sequelae (ref: Dunn doi.org/10.1001/jamapediatrics.2024.5562/).

The clinical landscape of myopathies has been enriched by recent studies focusing on diagnosis and patient outcomes. Liarski et al. provided insights into inclusion body myositis (IBM) through a retrospective analysis of US veterans, identifying key diagnostic criteria and patient demographics, which could enhance recognition and management strategies (ref: Liarski doi.org/10.1186/s40779-025-00592-5/). In a different context, Nath et al. examined calcium dysregulation in immune-mediated rippling muscle disease, identifying cavin 4 autoantibodies as potential biomarkers, although the underlying mechanisms remain unclear (ref: Nath doi.org/10.1186/s40478-025-01926-z/). Lauletta et al. refined the understanding of granulomatous myositis by analyzing a large cohort, revealing distinct clinical features and therapeutic outcomes that could guide future management (ref: Lauletta doi.org/10.1007/s00415-024-12748-9/). Nishidate et al. developed a humanized mouse model that exhibits myositis features, providing a valuable platform for drug evaluation and understanding disease mechanisms (ref: Nishidate doi.org/10.1186/s41232-025-00365-6/). Lastly, Dohi et al. explored myoblast engraftment strategies in skeletal muscle, addressing challenges in cell therapy for muscle atrophy, which could pave the way for innovative treatment approaches (ref: Dohi doi.org/10.3389/fcell.2024.1502332/).

Recent studies have provided new insights into the management of inflammatory and autoimmune myopathies, particularly focusing on treatment efficacy and safety. Saraux et al. conducted a randomized trial assessing baricitinib in polymyalgia rheumatica, revealing that adverse events were more prevalent in the treatment group, highlighting the need for careful monitoring in older patients (ref: Saraux doi.org/10.1016/S2665-9913(24)00270-4/). Ceribelli et al. evaluated cancer risk in patients with idiopathic inflammatory myopathies, finding that older age and specific autoantibodies, such as anti-TIF1-γ, were associated with higher cancer prevalence, which underscores the importance of vigilant cancer screening in this population (ref: Ceribelli doi.org/10.1016/j.semarthrit.2024.152619/). Additionally, Santos et al. performed a systematic review on pharmacological treatments for inclusion body myositis, consolidating evidence on treatment efficacy and safety, which is crucial for guiding clinical practice (ref: Santos doi.org/10.1136/rmdopen-2024-005176/). These findings collectively emphasize the complexity of managing inflammatory myopathies and the necessity for tailored therapeutic strategies.

The intersection of neuromuscular disorders and myopathy has been explored through various studies focusing on arrhythmias and post-viral syndromes. Austin et al. investigated the prevalence of atrial fibrillation and flutter in patients with myotonic muscular dystrophy, revealing significant associations between patient demographics and arrhythmia incidence, which could inform clinical monitoring strategies (ref: Austin doi.org/10.1016/j.jacep.2024.12.007/). Azcue et al. examined small fiber neuropathy in post-COVID conditions, finding significant differences in sensory thresholds compared to healthy controls, indicating potential diagnostic challenges in this population (ref: Azcue doi.org/10.1111/ene.70016/). Furthermore, Vernon et al. reported on the incidence and prevalence of post-COVID-19 myalgic encephalomyelitis/chronic fatigue syndrome, emphasizing the need for awareness and early intervention in affected individuals (ref: Vernon doi.org/10.1007/s11606-024-09290-9/). These studies highlight the evolving understanding of neuromuscular disorders in the context of broader health challenges, such as viral infections.

Research on muscle regeneration and repair mechanisms has yielded promising strategies for addressing muscular diseases. Wang et al. developed an anti-myoglobin monoclonal antibody to treat rhabdomyolysis-related acute kidney injury, demonstrating its potential to act as a mobile barrier against free myoglobin, which is critical in preventing renal damage (ref: Wang doi.org/10.1038/s41467-025-56353-4/). Foussard et al. explored the role of ICAM1 in ischemic muscle reperfusion, showing that ICAM1 blockade improved blood flow in diabetic mice, suggesting a therapeutic target for enhancing muscle recovery in ischemic conditions (ref: Foussard doi.org/10.1186/s12933-025-02573-3/). McMillan et al. evaluated the safety and efficacy of onasemnogene abeparvovec in pediatric patients with spinal muscular atrophy, providing critical data on its use in a broader weight range, which could influence treatment guidelines (ref: McMillan doi.org/10.1212/WNL.0000000000210268/). Additionally, Dohi et al. addressed the challenges of myoblast engraftment in intact skeletal muscle, proposing novel approaches to enhance cell therapy outcomes for muscle atrophy (ref: Dohi doi.org/10.3389/fcell.2024.1502332/). These findings collectively advance the understanding of muscle repair mechanisms and highlight innovative therapeutic avenues.

The epidemiology of myopathies has been further elucidated through recent studies examining risk factors and disease associations. Chourpiliadis et al. conducted a population-based case-control study in Sweden, revealing that a history of type 2 diabetes and hypercholesterolemia was associated with a lower risk of motor neuron diseases, challenging traditional perceptions of these comorbidities (ref: Chourpiliadis doi.org/10.1016/j.lanepe.2024.101173/). Nath et al. identified cavin 4 autoantibodies as biomarkers in immune-mediated rippling muscle disease, although the underlying mechanisms remain poorly understood, indicating a need for further research into disease pathogenesis (ref: Nath doi.org/10.1186/s40478-025-01926-z/). Liarski et al. provided insights into the prevalence of inclusion body myositis among US veterans, emphasizing the importance of accurate diagnosis and management in this demographic (ref: Liarski doi.org/10.1186/s40779-025-00592-5/). Additionally, Vernon et al. reported on the incidence of post-COVID-19 myalgic encephalomyelitis, highlighting the need for ongoing surveillance of post-viral syndromes (ref: Vernon doi.org/10.1007/s11606-024-09290-9/). These studies underscore the complexity of myopathy epidemiology and the interplay of various risk factors in disease progression.