Myopathies encompass a diverse range of muscle disorders, including dermatomyositis, congenital myopathy, and muscular dystrophies. Recent research has identified specific genetic variants associated with these conditions. For instance, a study reported bi-allelic variants in FILIP1 leading to congenital myopathy, dysmorphism, and neurological defects in five patients from consanguineous families (ref: Roos doi.org/10.1093/brain/). Another significant finding was the identification of bi-allelic variants in HMGCR, which were linked to autosomal-recessive progressive limb-girdle muscular dystrophy, highlighting the role of statins in muscle pathology (ref: Morales-Rosado doi.org/10.1016/j.ajhg.2023.04.006/). Furthermore, the study of fetal acetylcholine receptor antibody-related disorders has expanded our understanding of in utero exposures that can lead to severe muscle impairments, such as arthrogryposis multiplex congenita (ref: Allen doi.org/10.1093/brain/). In addition, advancements in imaging techniques, such as quantitative muscle MRI, have shown promising links between muscle changes and clinical outcomes in conditions like facioscapulohumeral muscular dystrophy (ref: Vincenten doi.org/10.1002/jcsm.13250/). Overall, these studies underscore the importance of genetic and molecular mechanisms in understanding myopathies and their clinical implications.

Inflammatory myopathies (IM) represent a group of conditions characterized by muscle inflammation and weakness, with dermatomyositis and polymyositis being prominent subtypes. Recent epidemiological studies have refined the incidence rates of IM, revealing an incidence of 8.22 new cases per million inhabitants per year, emphasizing the systemic nature of these diseases (ref: Debrut doi.org/10.1002/art.42561/). The role of autoantibodies, particularly Jo-1 antibodies, has been highlighted in inducing complement-dependent cytotoxicity in muscle endothelial cells, suggesting a mechanism for muscle damage in myositis (ref: Honda doi.org/10.1212/NXI.0000000000200116/). Additionally, a systematic review and meta-analysis revealed that rapidly progressive interstitial lung disease occurs in approximately 8.9% of patients with dermatomyositis/polymyositis, with biologic therapies showing improved survival rates (ref: Wang doi.org/10.1016/j.autrev.2023.103335/). The exploration of transcriptomic and proteomic pathways in adult versus juvenile dermatomyositis has uncovered shared and distinctive molecular signatures, which may guide future therapeutic strategies (ref: Ward doi.org/10.1002/art.42615/). Collectively, these findings enhance our understanding of the pathophysiology of inflammatory myopathies and their clinical management.

Neuromuscular and mitochondrial disorders are characterized by their impact on muscle function and energy metabolism. Recent studies have identified novel genetic factors contributing to these conditions. For example, the identification of CIB2 as a repressor of atrial remodeling highlights its potential role in cardiac complications associated with neuromuscular disorders (ref: Wang doi.org/10.1161/CIRCULATIONAHA.122.062660/). In the context of mitochondrial diseases, a coordinated metabolic response has been shown to contribute to muscle degeneration, emphasizing the need for a comprehensive understanding of metabolic drivers in these disorders (ref: Southwell doi.org/10.15252/emmm.202216951/). Furthermore, the establishment of gene-disease relationships for Leigh syndrome spectrum has been crucial for accurate diagnosis and management of mitochondrial disorders (ref: McCormick doi.org/10.1002/ana.26716/). The development of innovative treatment strategies, such as musculoresponsive polymer-carbon composites for muscle regeneration, represents a promising avenue for addressing mechanical injuries in skeletal muscle (ref: Chatterjee doi.org/10.1021/acsami.3c01889/). These studies collectively underscore the intricate interplay between genetic, metabolic, and therapeutic factors in neuromuscular and mitochondrial disorders.

The exploration of genetic and molecular mechanisms underlying myopathies has yielded significant insights into disease pathogenesis. Recent findings have identified bi-allelic variants in HMGCR as a cause of autosomal-recessive progressive limb-girdle muscular dystrophy, linking statin therapy to severe myopathy (ref: Morales-Rosado doi.org/10.1016/j.ajhg.2023.04.006/). Additionally, the study of Wooden breast myopathy in poultry has revealed oxidative perturbations affecting meat quality, providing a model for understanding myopathy mechanisms (ref: Carvalho doi.org/10.1016/j.foodchem.2023.136314/). Longitudinal studies utilizing quantitative muscle MRI have demonstrated the relationship between muscle changes and clinical outcomes in facioscapulohumeral muscular dystrophy, emphasizing the importance of imaging biomarkers in monitoring disease progression (ref: Vincenten doi.org/10.1002/jcsm.13250/). Furthermore, the investigation of post-translational modifications of the DUX4 protein has shed light on its toxic functions in facioscapulohumeral muscular dystrophy, suggesting potential therapeutic targets (ref: Knox doi.org/10.1002/ana.26668/). These studies highlight the critical role of genetic and molecular research in advancing our understanding of myopathies and informing treatment strategies.

Exercise and rehabilitation play a pivotal role in managing myopathies and enhancing muscle recovery. A systematic review and meta-analysis have demonstrated that pre-conditioning strategies can significantly alleviate exercise-induced muscle damage, with notable reductions in delayed-onset muscle soreness and improved range of motion (ref: Boyd doi.org/10.1007/s40279-023-01839-8/). Additionally, physical exercise has been shown to attenuate age-related muscle atrophy, with mechanisms involving adiponectin receptor signaling contributing to its anti-aging effects (ref: Chen doi.org/10.1002/jcsm.13257/). The efficacy of dietary supplements, such as Greenshell™ mussel powder, has also been investigated for their potential to expedite recovery from eccentric exercise-induced muscle damage, highlighting the importance of nutritional support in rehabilitation (ref: Lomiwes doi.org/10.3390/nu15102316/). Furthermore, innovative approaches like irreversible electroporation have shown promise in enhancing tendon healing, indicating the potential for novel interventions in rehabilitation protocols (ref: Wang doi.org/10.1177/03635465231167860/). Collectively, these findings underscore the significance of exercise and rehabilitation strategies in improving outcomes for individuals with myopathies.

Chronic fatigue and related syndromes, such as myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), present complex challenges in diagnosis and management. A systematic review has highlighted the involvement of immune dysfunction in ME/CFS, with lymphocytes serving as a model for investigating the pathophysiology of the condition (ref: Maksoud doi.org/10.1186/s12916-023-02893-9/). Additionally, research into post-translational modifications of the DUX4 protein has revealed its toxic functions in facioscapulohumeral muscular dystrophy, suggesting overlapping mechanisms with chronic fatigue syndromes (ref: Knox doi.org/10.1002/ana.26668/). The longitudinal assessment of muscle MRI in facioscapulohumeral muscular dystrophy has also provided insights into the clinical outcomes associated with muscle changes, which may be relevant for understanding fatigue in myopathic conditions (ref: Vincenten doi.org/10.1002/jcsm.13250/). These studies emphasize the need for a multidisciplinary approach to address the complexities of chronic fatigue and related syndromes, integrating immunological, muscular, and psychological perspectives.

The epidemiology and treatment of myopathies have been the focus of recent studies aimed at understanding global disparities and improving patient outcomes. An international survey revealed significant variations in the treatment of idiopathic inflammatory myopathies (IIMs) across regions, correlating with gross national income and disease subtypes (ref: Ziade doi.org/10.1093/rheumatology/). This highlights the need for tailored treatment approaches that consider socioeconomic factors. Additionally, the exploration of joint and muscle inflammatory diseases has underscored the overlap between myositis and polyarthritis, emphasizing the complexity of diagnosis and management in these patients (ref: Lekieffre doi.org/10.1016/j.semarthrit.2023.152227/). Furthermore, advancements in understanding the genetic underpinnings of myopathies, such as the role of RNase Z in cardiomyopathy, have opened new avenues for targeted therapies (ref: Migunova doi.org/10.1371/journal.pone.0286214/). These findings collectively underscore the importance of addressing both epidemiological and treatment aspects to enhance the care of individuals with myopathies.