Myotonic dystrophy type 1 (DM1) is characterized by an RNA gain-of-function mutation affecting DMPK transcripts, leading to various muscular and systemic complications. A multicenter, randomized, dose-escalation, placebo-controlled trial evaluated the safety of an antisense oligonucleotide targeting DMPK, involving 48 participants who received at least one dose of the study drug. The primary outcome was safety, with results indicating a favorable safety profile for the treatment (ref: Thornton doi.org/10.1016/S1474-4422(23)00001-7/). In parallel, research on exercise interventions revealed that a single dose of exercise could stimulate mitochondrial plasticity in DM1 skeletal muscle, enhancing mitochondrial biogenesis without altering underlying cellular pathology in DM1 mice. This suggests potential adaptive benefits from exercise in managing DM1 symptoms (ref: Mikhail doi.org/10.1111/apha.13943/). Furthermore, the epigenetic regulation of plastin 3 expression by macrosatellite DXZ4 and CHD4 was explored, highlighting the importance of PLS3 in neuromuscular disorders and its protective role against spinal muscular atrophy (ref: Strathmann doi.org/10.1016/j.ajhg.2023.02.004/). The implications of statin-associated myopathy were also discussed, revealing a genetic basis for muscle weakness in some patients, emphasizing the need for careful monitoring of statin use (ref: Harel doi.org/10.1073/pnas.2300988120/).

Immune-mediated myopathies, including myositis and myocarditis, present significant clinical challenges, particularly in patients undergoing immune checkpoint inhibitor therapy. A study reported the effectiveness of a combined treatment strategy using abatacept and ruxolitinib to manage immune-checkpoint-inhibitor-associated myotoxicity, which included systematic screening for respiratory muscle failure (ref: Salem doi.org/10.1158/2159-8290.CD-22-1180/). Transcriptomic profiling of patients with immune checkpoint inhibitor-induced myositis revealed distinct immune pathways activated in different myositis subtypes, with type 2 interferon pathways being prevalent in ICI-DM and ICI-MYO1, while type I interferon pathways were specific to ICI-DM (ref: Pinal-Fernandez doi.org/10.1136/ard-2022-223792/). Additionally, the unexpected frequency of pathogenic AR CAG repeat expansions in the general population was highlighted, suggesting a higher prevalence of spinal and bulbar muscular atrophy than previously recognized (ref: Zanovello doi.org/10.1093/brain/). The longitudinal imaging findings in antisynthetase syndrome-related interstitial lung disease indicated that specific radiographic patterns could predict survival outcomes, underscoring the complexity of managing these conditions (ref: Wu doi.org/10.1007/s00330-023-09439-w/).

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating condition characterized by profound fatigue and various systemic symptoms. Recent studies have identified a deficient butyrate-producing capacity in the gut microbiome of ME/CFS patients, correlating with disturbances in bacterial networks and fatigue symptoms (ref: Guo doi.org/10.1016/j.chom.2023.01.004/). A multi-omics approach further elucidated gut microbiome-host interactions, revealing significant differences in microbial diversity and metabolic pathways between short-term and long-term ME/CFS patients compared to healthy controls (ref: Xiong doi.org/10.1016/j.chom.2023.01.001/). Additionally, a population-based study indicated a higher prevalence of depression and anxiety disorders prior to ME/CFS diagnosis, suggesting a potential link between mental health and the onset of chronic fatigue (ref: Chen doi.org/10.1186/s12967-023-03886-1/). Symptom-based clustering in ME/CFS patients demonstrated the heterogeneity of the condition, highlighting the need for personalized treatment approaches (ref: Vaes doi.org/10.1186/s12967-023-03946-6/).

Muscle dystrophies are a diverse group of genetic disorders characterized by progressive muscle weakness and degeneration. Recent findings on TEFM variants have linked them to childhood-onset neurological diseases due to impaired mitochondrial transcription (ref: Van Haute doi.org/10.1038/s41467-023-36277-7/). In spinobulbar muscular atrophy (SBMA), targeting co-regulators LSD1 and PRMT6 through gene therapy showed promise in ameliorating disease phenotypes in model organisms, indicating a potential therapeutic avenue (ref: Prakasam doi.org/10.1038/s41467-023-36186-9/). Additionally, novel monoallelic variants in the DTNA gene were identified as causes of a mild, dominantly inherited muscular dystrophy, expanding the genetic landscape of muscular disorders (ref: Nascimento doi.org/10.1007/s00401-023-02551-7/). Advances in molecular diagnostics for Duchenne muscular dystrophy (DMD) using next-generation sequencing have improved detection rates of various mutation types, facilitating earlier diagnosis and intervention (ref: Nallamilli doi.org/10.1002/cpz1.669/). Furthermore, research on juvenile dermatomyositis revealed associations between adipokine profiles and cardiac function, emphasizing the systemic implications of muscle disorders (ref: Marstein doi.org/10.1136/rmdopen-2022-002815/).

Rehabilitation strategies for neuromuscular disorders are evolving, with innovative technologies showing promise in enhancing patient outcomes. A study introduced a lightweight, portable soft robotic wearable designed to assist individuals with amyotrophic lateral sclerosis in restoring arm function, demonstrating its potential for everyday use (ref: Proietti doi.org/10.1126/scitranslmed.add1504/). Additionally, combining aerobic exercise with advanced tissue engineering strategies has been shown to promote functional recovery following volumetric muscle loss, addressing a significant challenge in muscle rehabilitation (ref: Endo doi.org/10.1016/j.biomaterials.2023.122058/). Research on chronic tendinopathy revealed disruptions in circadian gene expression, suggesting that time-dependent biological rhythms may play a role in tendon health and recovery (ref: Yeung doi.org/10.1113/JP284083/). The gut-muscle connection hypothesis in Duchenne muscular dystrophy has gained traction, indicating that gut microbiota may influence muscle function and disease progression (ref: Jayaraman doi.org/10.15252/emmm.202217324/).

Mitochondrial dysfunction is a critical factor in various muscle disorders, influencing energy metabolism and muscle health. Recent studies have highlighted the role of cardiolipin metabolism in regulating muscle transcription factors, with implications for muscle development and pathology (ref: Vo doi.org/10.1016/j.jbc.2023.102978/). Chronic calcium stress in muscle cells has been linked to gene regulatory programs that may correct glucose dysregulation, suggesting a complex interplay between calcium signaling and metabolic health (ref: Tammineni doi.org/10.7554/eLife.78874/). Furthermore, advanced glycation end products have been implicated in skeletal muscle atrophy and insulin resistance, emphasizing the metabolic consequences of mitochondrial dysfunction in muscle disorders (ref: Du doi.org/10.1152/ajpendo.00218.2022/). The identification of TEFM variants as contributors to neurological disease underscores the importance of mitochondrial RNA biology in muscle health (ref: Van Haute doi.org/10.1038/s41467-023-36277-7/).

Clinical outcomes in myopathies are increasingly linked to specific biomarkers that can inform disease progression and treatment efficacy. A longitudinal study on Becker muscular dystrophy assessed changes in muscle-enriched biomarkers over four years, revealing associations with disease severity and dystrophin levels (ref: van de Velde doi.org/10.1212/WNL.0000000000201609/). Genetic studies have explored the causal effects of muscle mass on uterine leiomyomata, providing insights into the heritable risk factors associated with muscle disorders (ref: Sliz doi.org/10.1038/s41467-023-35974-7/). Additionally, a retrospective analysis of a digital home exercise program demonstrated potential benefits for managing back, hip, and knee pain, highlighting the role of digital health applications in enhancing patient care (ref: Teepe doi.org/10.2196/43775/). Neuroinflammation in spinal muscular atrophy was shown to be mitigated by Nusinersen, indicating its therapeutic potential in addressing inflammatory components of muscle disorders (ref: Nuzzo doi.org/10.1038/s43856-023-00256-2/).

The psychosocial dimensions of muscle disorders are gaining recognition, particularly regarding their impact on mental health and quality of life. A population-based study revealed a higher prevalence of depression and anxiety disorders among individuals diagnosed with chronic fatigue syndrome (CFS), suggesting a significant mental health burden associated with the condition (ref: Chen doi.org/10.1186/s12967-023-03886-1/). Additionally, research on hand function in patients with rheumatoid arthritis indicated that grip strength and difficulties were prevalent even before diagnosis, reflecting the early impact of musculoskeletal disorders on daily life (ref: Krijbolder doi.org/10.1136/rmdopen-2022-002885/). The prognosis of spontaneous pneumomediastinum in dermatomyositis patients was found to be significantly influenced by anti-MDA5 antibody status, highlighting the need for careful monitoring in this population (ref: Abe doi.org/10.1136/rmdopen-2022-002770/). Furthermore, the high prevalence of Pneumocystis jirovecii pneumonia in anti-MDA5 positive dermatomyositis patients underscores the importance of addressing infectious risks in this vulnerable group (ref: Chen doi.org/10.1093/rheumatology/).