Recent studies have elucidated various genetic and molecular mechanisms underlying myopathies, particularly focusing on the role of specific genes and molecular pathways. One significant finding is the enhanced proteasome activity in perifascicular myofibres, which serves as a hallmark of dermatomyositis. This study utilized RNA-sequencing to analyze the transcriptome of microdissected myofibres from patients with dermatomyositis and other inflammatory myopathies, revealing distinct molecular pathways that could be targeted for therapeutic interventions (ref: Debrut doi.org/10.1016/j.ard.2025.08.031/). Another study highlighted the role of AS160, a Rab-GTPase activating protein, in regulating muscle satellite cell proliferation, particularly in the context of diabetic myopathy, suggesting that AS160 may serve as a transcriptional co-factor crucial for muscle regeneration (ref: Yang doi.org/10.1038/s41467-025-64220-5/). Additionally, research into alpha-sarcoglycanopathy has shown that inflammatory pathways significantly drive disease progression, with distinct gene expression profiles identified between severe and mild cases (ref: Amaro doi.org/10.1093/brain/). Furthermore, the translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2 has been implicated in mitochondrial dysfunction, emphasizing the need for further exploration of genetic markers as potential therapeutic targets (ref: Jiao doi.org/10.1093/brain/).

The role of inflammatory pathways in myopathies has garnered significant attention, particularly in understanding the underlying mechanisms of various conditions. In dermatomyositis, enhanced proteasome activity in perifascicular myofibres has been identified as a critical feature, with RNA-sequencing revealing specific molecular pathways that could be targeted for treatment (ref: Debrut doi.org/10.1016/j.ard.2025.08.031/). In spinal muscular atrophy, the inflammatory footprint extends beyond neural tissues, with cytokine activation and NF-κB pathway stimulation contributing to motor neuron degeneration (ref: Ottoboni doi.org/10.1093/brain/). Additionally, muscle transcriptomics in alpha-sarcoglycanopathy has highlighted the aberrant inflammatory response as a key factor in disease progression, with distinct gene expression profiles observed between severe and mild cases (ref: Amaro doi.org/10.1093/brain/). The translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2 further underscores the importance of inflammatory pathways, as this process induces cytotoxicity and apoptosis in affected cell lines (ref: Jiao doi.org/10.1093/brain/).

Innovative therapeutic approaches are being developed to address the challenges posed by myopathies, particularly in genetic disorders such as Duchenne muscular dystrophy (DMD). One promising strategy involves the use of muscle-specific virus-like particles for the systemic delivery of gene-editing tools, leveraging muscular fusogens to enhance therapeutic efficacy (ref: Zhou doi.org/10.1038/s41467-025-64200-9/). Another study emphasizes the importance of targeting lysosomal damage in DMD, as current gene therapy approaches have shown incomplete therapeutic efficacy, highlighting the need for improved strategies (ref: Jaber doi.org/10.1126/sciadv.adv6805/). Additionally, a synthetic bottlebrush block copolymer has been shown to prevent disease onset in DMD by addressing muscle membrane instability, a primary defect in the condition (ref: Cohen doi.org/10.1073/pnas.2513599122/). The compound ARC-18 has also demonstrated improved motor performance in DMD models by inhibiting ACLY-mediated Smad2/3 acetylation, showcasing the potential of pharmacological interventions (ref: Chen doi.org/10.1002/jcsm.70081/).

The classification of neuromuscular disorders has become increasingly complex, with evidence of overlapping neuropathic and myopathic phenotypes emerging from genetic research. A review has identified numerous genes capable of manifesting both phenotypes, complicating clinical diagnosis and neurophysiological assessments (ref: Laurini doi.org/10.1093/brain/). This complexity necessitates the inclusion of these genes in next-generation sequencing panels to enhance diagnostic accuracy. Additionally, the study of parental opioid prescriptions has revealed a significant association with opioid use in adolescents, indicating potential familial influences on the risk of developing substance use disorders (ref: Marcuzzi doi.org/10.1371/journal.pmed.1004763/). Furthermore, enhanced proteasome activity in perifascicular myofibres has been linked to dermatomyositis, emphasizing the need for a comprehensive understanding of the underlying mechanisms in various neuromuscular disorders (ref: Debrut doi.org/10.1016/j.ard.2025.08.031/).

Epidemiological studies have provided valuable insights into the incidence and prevalence of myopathies, particularly congenital myopathies. A population-based study from Western Sweden has aimed to present both incidences and prevalences, utilizing modern diagnostic technologies to describe the genetic and muscle pathological characteristics of these disorders (ref: Michael doi.org/10.1002/ana.78078/). In the context of post-COVID-19 condition, muscle abnormalities have been observed in nonhospitalized patients, with significant differences noted in muscle biopsies compared to healthy controls (ref: Tryfonos doi.org/10.1002/jcsm.70085/). Additionally, longitudinal studies on myotonic dystrophy type 2 have identified cortical thinning and white matter alterations over a decade, suggesting potential biomarkers for tracking cerebral changes in affected individuals (ref: Krieger doi.org/10.1007/s00415-025-13435-z/). The efficacy of digital therapeutic interventions for temporomandibular disorders has also been evaluated, demonstrating significant improvements in pain and jaw function, although psychological distress remained unchanged (ref: Park doi.org/10.2196/83545/).

Research into muscle regeneration and repair mechanisms has highlighted several key factors influencing muscle satellite cell activity and overall regeneration. The nuclear entry of AS160 has been identified as a crucial regulator of satellite cell proliferation, particularly in the context of diabetic myopathy, suggesting its potential as a therapeutic target (ref: Yang doi.org/10.1038/s41467-025-64220-5/). Additionally, the translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2 has been shown to induce cytotoxicity and apoptosis, emphasizing the need for targeted therapies that address these molecular mechanisms (ref: Jiao doi.org/10.1093/brain/). The role of Pbk in enhancing myoblast differentiation and muscle regeneration has also been explored, with findings indicating its positive regulatory effects on myogenic autophagy (ref: Wang doi.org/10.1186/s12967-025-07173-z/). Furthermore, a retrospective study on late-onset Pompe disease has provided insights into mortality causes and comorbidities, underscoring the importance of understanding the broader implications of muscle degeneration (ref: Chitimus doi.org/10.1111/ene.70394/).

Diagnostic and biomarker studies in myopathies have focused on identifying key indicators that can aid in the understanding and management of these conditions. The R405W desmin knock-in mouse model has provided insights into mitochondrial alterations and protein quality control in myofibrillar myopathy, highlighting the potential for these markers to inform therapeutic strategies (ref: Batonnet-Pichon doi.org/10.1002/jcsm.70094/). Longitudinal studies on myotonic dystrophy type 2 have revealed distinct patterns of cortical thinning and white matter alterations, suggesting that these changes could serve as biomarkers for tracking disease progression over time (ref: Krieger doi.org/10.1007/s00415-025-13435-z/). Additionally, a study on late-onset Pompe disease has examined the specific causes of death and associated comorbidities, emphasizing the need for comprehensive diagnostic approaches to improve patient outcomes (ref: Chitimus doi.org/10.1111/ene.70394/). The relationship between scapular position asymmetry and latent myofascial trigger points has also been explored, indicating potential diagnostic implications for musculoskeletal pain management (ref: Aki doi.org/10.1371/journal.pone.0335268/).