FSHD News

🇧🇪🇦🇷🇬🇧 👉DUX4 at 25: how it emerged from "junk DNA" to become the cause of #FSHD 💡The history of DUX4, from genetic linkage studies in the 1990s, through to identification of the DUX4 gene in 1999 👉pubmed.ncbi.nlm.nih.gov/40855454/ @DimusChile @VivirconFSHD @MacaDiazU @Dyne_tx @abrafeu

🧬@Vita_Tx 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 @ToshifumiYokota @vishnuvy @DongxuZheng @oligogirl prnewswire.com/news-releases/…

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

Thank you to everyone who joined us for the 2025 International Research Congress & the Industry Collaborative. The festivities are not over! This weekend also includes the inaugural FSHD EU Connect Conference & the Project Mercury Global Task Force meeting. #FSHD #FSHDResearch

🇪🇺👉Machine learning-driven Heckmatt grading in #FSHD: A novel pathway for musculoskeletal ultrasound analysis 💡Automatic pipeline for muscle ultrasound analysis, leveraging learning and quantitative Heckmatt grading 📰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 📰journals.sagepub.com/doi/abs/10.117… @helenmwalker44 @PiliCamano @MyologyLab

👍@SOLVEFSHD Announces Strategic Collaboration with @transcriptabio to Advance Drug Discovery for FSHD @MDUK_News @vishnuvy @Brandon__Alexan @TREAT_NMD

🇺🇸🇬🇧 👉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, ROS, & apoptosis. biorxiv.org/content/10.110…

🇦🇺 👉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 📑pubmed.ncbi.nlm.nih.gov/40085998/ @FSHD @muscles4muscle @RitaJSerrano

🇪🇺🇺🇸 👉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. 📑 nmd-journal.com/article/S0960-… @helenmwalker44

🇪🇺🇫🇷🇮🇹 👉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 📰pubmed.ncbi.nlm.nih.gov/39855012/ @NizarSaad20 @Matt_Muscle_Guy @TheChair1130

🇪🇺 👉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. 📰pmc.ncbi.nlm.nih.gov/articles/PMC11…

🇨🇱 👉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/PMC11… @DimusChile @VivirconFSHD @MacaDiazU

🇨🇳 👉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 pmc.ncbi.nlm.nih.gov/articles/PMC11… @FSHD_China @PiliCamano @FSHD_Leiden @MyologyLab

💪 Scientists with Dr. Oscar Horwath at @orebrouni suggested that combined exercise training elicited beneficial muscular adaptations without impairing important indicators of skeletal #muscle regenerative capacity in patients with #FSHD. 👉 @JPhysiol | bit.ly/4hIhwnH

🇪🇺🇦🇹 👉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 📰pmc.ncbi.nlm.nih.gov/articles/PMC11… @Oliver_S_MD @MacaDiazU @BaudotAnais

🇺🇸 👉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 📰 pmc.ncbi.nlm.nih.gov/articles/PMC11… @fdphilp @sduguez_lab @rmunil @PhysioForMotion @LivUniPhysio

🇪🇺👉Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with #FSHD 💡In 14/18 patients, FSHD-unrelated genetic causes, most often unrelated repeat expansion disorders 📑pubmed.ncbi.nlm.nih.gov/39775061/ @PiliCamano @FshdDonostia @helenmwalker44

🇺🇸 👉#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/PMC11… @RNA_biologist @lajollalabs @Matt_Muscle_Guy