🇧🇪 🇨🇱 🇬🇧 👉DUX4 at 25: how it emerged from "junk DNA" to become the cause of #FSHD 💡The history of DUX4, fromgenetic linkage studies in the early 1990s, through to identificationof the DUX4 gene in 1999 📰https://pubmed.ncbi.nlm.nih.gov/40855454/ Alexandra Belayew , Alberto L Rosa & Peter S Zammit

🇯🇵 👉Iron supplementation alleviates pathologies in a mouse model of #FSHD 💡DUX4-provoked toxicity is involved in the activation of the ferroptosis-related pathway 📰https://jci.org/articles/view/181881 (pdf) jci.org/articles/vie...

🧬 @Vita Therapeutics and I Peace announced a development program to generate iPS-derived differentiated cells for transplant therapy with an initial focus on #FSHD using universal #iPS cells www.prnewswire.com/news-release...

🇪🇺rope 👉Machine learning-driven Heckmatt grading in #FSHD: A novel pathway for musculoskeletal ultrasound analysis 💡Automatic pipeline for muscle ultrasound analysis, leveraging machine for segmentation, classification, and quantitative Heckmatt grading 📰https://pubmed.ncbi.nlm.nih.gov/40020544/

🇺🇸 🇪🇺 👉Strength and functional correlates of reachable workspace in #FSHD Correlations between total relative surface area and upper extremity strength measured by quantitative muscle testing pubmed.ncbi.nlm.nih.gov/39978161/

🇳🇱 👉Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature 💡#FSHD: #Incidence rate 0.3 #Prevalence rate-Mean /100,000: 5 Prevalence rate-Range/100,000: 0.79–12 📰https://journals.sagepub.com/doi/abs/10.1177/22143602241313118

👉 Proteomic profiling uncovers sexual dimorphism in the muscle response to wheel running exercise in the FLExDUX4 murine model of #FSHD 💡mice recapitulates characteristics of FSHD, ; alterations to mitochondria, RNA metabolism, oxidative stress, and apoptosis. 📰 www.biorxiv.org/content/10.1...

🇦🇺 👉Sarcolemmal dysfunction in #FSHD: An assessment using muscle velocity recovery cycles 💡The study suggests that functional changes in muscle membrane properties occur early in FSHD 📑https://pubmed.ncbi.nlm.nih.gov/40085998/

🇪🇺🇺🇸 👉Muscle imaging in #FSHD research: A scoping review and expert recommendations 💡A specific muscle ultrasound protocol is suitable for diagnosis and has potential as both a prognostic and monitoring biomarker in FSHD research. 📑 www.nmd-journal.com/article/S096...

🇪🇺🇫🇷🇮🇹 👉High prevalence of #FSHD and inflammatory myopathies association: Is there an interplay ? 💡Prevalence of FSHD in the IIM cohort was 1/350, and the prevalence of IIM in the FSHD cohort was 1/40 📰https://pubmed.ncbi.nlm.nih.gov/39855012/

🇪🇺 👉Increased muscle satellite cell content and preserved telomere length in response to combined exercise training in patients with #FSHD 💡These findings suggest that such training supports muscle regeneration without accelerating cellular aging. t.co/yLMeTn0rsy

🇨🇱 👉The Unexplored Role of Connexin Hemichannels in Promoting #FSHD Progression 💡FSHD progression, with a focus on hormones, inflammation, reactive oxygen species (ROS), and mitochondrial function pmc.ncbi.nlm.nih.gov/articles/PMC...

🇨🇳 👉The distribution of #D4Z4 repeats in #China and direct prenatal diagnosis of #FSHD by optical genome mapping 💡Optical genome mapping is an accurate and effective method for the prenatal diagnosis t.co/1mpXs68lxp

🇪🇺 🇦🇹 👉Bilateral foot drop as presenting feature of #FSHD 1 💡The relevance of a thorough clinical examination, accompanied by conventional diagnostic applications to obtain a correct #genetic #diagnosis 📰https://pmc.ncbi.nlm.nih.gov/articles/PMC11722158/

🇺🇸 👉Sternal Reconstruction for Refractory Pectus Excavatum From #FSHD 💡Successful implantation of a customized sternal plate in the treatment of a patient with refractory pectus excavatum t.co/rvqXQzECCh

👉Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with #FSHD 💡In 14/18 patients, we identified FSHD-unrelated genetic causes, most often unrelated repeat expansion disorders. 📰https://pubmed.ncbi.nlm.nih.gov/39775061/

🇺🇸 👉#DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways 💡HSATII-RNP formation on #RNA processing pathways provides valuable insight underlying #FSHD. pmc.ncbi.nlm.nih.gov/articles/PMC...

Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in #FSHD: An Observational Study The phase angle of FSHD patients is lower than healthy controls. onlinelibrary.wiley.com/doi/10.1002/...

🇪🇺 🇫🇷 👉SMCHD1 genetic variants in type 2 #FSHD & challenges in predicting pathogenicity & disease penetrance 💡The intriguing relationship between D4Z4 methylation, SMCHD1 variants with SMCHD1 protein structure-function in FSHD www.nature.com/articles/s41...

👉Age at onset mediates genetic impact on disease severity in #FSHD 💡Independent contributions from D4Z4 repeat units, D4Z4 methylation levels, mosaic mutation and inheritance pattern on age at onset variation 📰 pubmed.ncbi.nlm.nih.gov/39711249/

👉Longitudinal Insights Into Childhood Onset #FSHD: A 5-Year Natural History Study 💡This study contributes to improved counseling for children and their parents 📰https://pmc.ncbi.nlm.nih.gov/articles/PMC11655134/

🇺🇸 👉Identifica0tion of disease-specific extracellular vesicle-associated plasma protein biomarkers for Duchenne MD &#FSHD 💡Circulating extracellular vesicle content disease-specific protein biomarkers for DBMD & FSHD 📰 pubmed.ncbi.nlm.nih.gov/39649602/

VANCOUVER 👉SOLVE FSHD, a venture philanthropy organization dedicated to accelerate new therapies, is calling on innovators worldwide to compete for the USD$10 million #FSHD Bonus Prize 📰 www.businesswire.com/news/home/20...

👉SIX transcription factors are necessary for the activation of DUX4 expression in #fshd 💡Involvement of SIX transcription factors in the promotion of #DUX4 expression epigenetic derepression of the #D4Z4 repeats. 📰https://skeletalmusclejournal.biomedcentral.com/articles/10.1186/s13395-024-00361-3

🇨🇳 👉Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset #FSHD 💡Confirmation of #D4Z4 repeat reduction, particularly in cases involving parental #mosaicism 📰https://www.sciencedirect.com/science/article/abs/pii/S0009898124023155?via%3Dihub

🇪🇺 🇮🇹 👉Muscle Proteome Analysis of #FSHD Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function 💡Molecules identified may represent potential diagnostic & therapeutic targets www.mdpi.com/2076-3921/13...

🇺🇸 👉Respiratory function & evaluation in individuals with #FSHD in the Muscular Dystrophy Surveillance, Tracking and Research Network 💡#Respiratory evaluation at #diagnosis could identify insufficiency as a complication 📰https://pubmed.ncbi.nlm.nih.gov/39579597/

🇺🇸 👉Management of #FSHD symptoms: current assistive technologies and pharmacological approaches 💡Despite advances in #pharmacological #research the variability necessitates a personalized approach 📰 www.tandfonline.com/doi/full/10....

🇪🇺 🇳🇱 👉Three-dimensional tissue engineered skeletal muscle modelling #FSHD 💡3D skeletal muscle model can be employed for preclinical research and In the future be used for preclinical drug screening. 📰https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae379/60742616/awae379.pdf

🚨 Novartis has acquired Kate Therapeutics for up to $1.1 billion 👉Kate’s FSHD program is designed to deliver a microRNA against DUX4 potently and uniformly to skeletal muscles throughout the body, knocking down DUX4 in skeletal muscles. 📰 t.co/ExvJrtekAA

Euromuscular Disorders(2024) 👉#FSHD Poster 632P A human skeletal muscle-on-chip model for #FSHD: improving maturation and complexity 💡muscle-on-chip designs demonstrating the superiority of 3D-TESMs over 2D #myotube cultures 📰https://www.sciencedirect.com/science/article/pii/S096089662400539X

🇺🇸 👉Temporal variation in p38-mediated regulation of DUX4 in #FSHD 💡 p38 is critical for #DUX4 expression during early myogenesis 📰 pubmed.ncbi.nlm.nih.gov/39488616/

Euromuscular Disorders 43 (2024) 👉#FSHD Poster 631P 🇬🇧 Respiratory function and trajectories in #FSHD : a clinical audit 💡Respiratory trajectories appear to differ depending on ambulatory status and disease duration 📰 t.co/OXKWglPMyV

🇺🇸 👉Temporal variation in p38-mediated regulation of DUX4 in #FSHD 💡 p38 is critical for #DUX4 expression during early myogenesis 📰 pubmed.ncbi.nlm.nih.gov/39488616/

Euromuscular Disorders 43 (2024) 👉 #FSHD Poster 630P 🇳🇱🇮🇳🇬🇧 Genetic diversity and clinical implications of #FSHD in the Indian population 💡Need for global FSHD participation in research and the establishment of trial-ready Indian FSHD 📰https://t.co/xQjou47jBy

👉Molecular, Histological, and Functional Changes in Acta1-MCM;FLExDUX4/+ Mice 💡Further investigations are required to characterise this model’s additional parameters, such as oxidative stress www.mdpi.com/1422-0067/25...

Euromuscular Disorders 43 (2024) 👉#FSHD Poster 629P Co-producing UK care quality standards in #FSHD in partnership with people with FSHD, carers and healthcare professionals: a qualitative focus group study 💡Potential implications for global neuromuscular healthcare

Euromuscular Disorders 43 (2024) 👉#FSHD Poster 628P 🇫🇷 Development of a #CRISPR/CasX 4q telomeric region ablation strategy for FSHD1 using an isogenic #hiPSC line and a FSHD1 fibroblast cell line 💡The D4Z4 locus ablation will be verified with the Nanopore technology.