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FSHD News

@fshd.bsky.social
62 followers 18 following 39 posts

Ex: FSHD News on Twitter - @mpcfshd FSHD NEWS over the world. Research and patients networks #FSHD #FacioScapuloHumeral #CureFSHD #WorldFSHDDay = June 20th

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FSHD News @fshd.bsky.social · 17/03/2026
👉Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with #FSHD - Case Study 💡Bilateral severe sensorineural hearing loss was documented. Speech disorders were associated with reduced tension of articulatory muscles. 📰https://pmc.ncbi.nlm.nih.gov/articles/PMC12978010/pdf/TACG-19-574913.pdf
pmc.ncbi.nlm.nih.gov
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FSHD News @fshd.bsky.social · 28/08/2025
🇧🇪 🇨🇱 🇬🇧 👉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
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FSHD News @fshd.bsky.social · 12/07/2025
🇯🇵 👉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...
jci.org
JCI - Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy
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FSHD News @fshd.bsky.social · 11/07/2025
🧬 @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...
prnewswire.com
Vita Therapeutics and I Peace announced a development program to generate iPS-derived differentiated cells for transplant therapy with an initial focus on FSHD (Facioscapulohumeral Muscular Dystrophy)...
/PRNewswire/ -- Leading GMP cell CDMO I Peace, Inc. (https://ipeace.com/en/), specializing in induced pluripotent stem cells (iPSCs) and iPSC-derived cell...
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FSHD News @fshd.bsky.social · 25/04/2025
🇪🇺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/
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FSHD News @fshd.bsky.social · 22/04/2025
🇺🇸 🇪🇺 👉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/
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FSHD News @fshd.bsky.social · 30/03/2025
🇳🇱 👉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
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FSHD News @fshd.bsky.social · 22/03/2025
👉 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...
biorxiv.org
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FSHD News @fshd.bsky.social · 16/03/2025
🇦🇺 👉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/
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FSHD News @fshd.bsky.social · 14/03/2025
🇪🇺🇺🇸 👉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...
nmd-journal.com
Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disorder and the second most common muscular dystrophy in adulthood, with an estimated prevalence of approximately 12 per 100,000 i...
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FSHD News @fshd.bsky.social · 12/03/2025
🇪🇺🇫🇷🇮🇹 👉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/
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FSHD News @fshd.bsky.social · 05/03/2025
🇪🇺 👉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
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FSHD News @fshd.bsky.social · 28/02/2025
🇨🇱 👉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...
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FSHD News @fshd.bsky.social · 18/02/2025
🇨🇳 👉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
t.co
https://pmc.ncbi.nlm.nih.gov/articles/PMC11817091/
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FSHD News @fshd.bsky.social · 09/02/2025
🇪🇺 🇦🇹 👉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/
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FSHD News @fshd.bsky.social · 27/01/2025
🇺🇸 👉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
t.co
https://pmc.ncbi.nlm.nih.gov/articles/PMC11708601/
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FSHD News @fshd.bsky.social · 26/01/2025
👉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/
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FSHD News @fshd.bsky.social · 23/01/2025
🇺🇸 👉#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...
pmc.ncbi.nlm.nih.gov
DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways
RNA-driven protein aggregation leads to cellular dysregulation by sequestering regulatory proteins, disrupting normal cellular processes, and contributing to the development of diseases and tumorigene...
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FSHD News @fshd.bsky.social · 22/01/2025
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/...
onlinelibrary.wiley.com
Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study
Background and Aims Body composition parameters associated with aerobic fitness, mirrored by maximal oxygen consumption (V̇O2max), have recently gained interest as indicators of physical efficiency ...
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FSHD News @fshd.bsky.social · 30/12/2024
🇪🇺 🇫🇷 👉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...
nature.com
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance - European Journal of Human Genetics
European Journal of Human Genetics - SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
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FSHD News @fshd.bsky.social · 29/12/2024
👉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/
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FSHD News @fshd.bsky.social · 21/12/2024
👉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/
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FSHD News @fshd.bsky.social · 10/12/2024
🇺🇸 👉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/
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FSHD News @fshd.bsky.social · 06/12/2024
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...
businesswire.com
SOLVE FSHD Challenges Innovators with USD$10 Million Bonus Prize to Accelerate FSHD Breakthroughs in XPRIZE Healthspan Competition
XPRIZE Healthspan competition announced by SOLVE FSHD invites innovators with USD$10 million bonus prize.
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FSHD News @fshd.bsky.social · 06/12/2024
👉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
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FSHD News @fshd.bsky.social · 03/12/2024
🇨🇳 👉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
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FSHD News @fshd.bsky.social · 30/11/2024
🇪🇺 🇮🇹 👉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...
mdpi.com
Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic de-repression of the double homeobox 4 (DUX4) gene, leading to asymmetric muscle weakness and atrophy that begins in the facia...
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FSHD News @fshd.bsky.social · 28/11/2024
🇺🇸 👉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/
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FSHD News @fshd.bsky.social · 27/11/2024
🇺🇸 👉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....
tandfonline.com
Management of FSHD symptoms: current assistive technologies and pharmacological approaches
Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetically linked disorder characterized by the progressive deterioration of muscles controlling facial and scapular movement. The severity and d...
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FSHD News @fshd.bsky.social · 26/11/2024
🇪🇺 🇳🇱 👉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
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FSHD News @fshd.bsky.social · 23/11/2024
🚨 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
t.co
https://www.genengnews.com/topics/drug-discovery/novartis-buys-kate-therapeutics-expanding-in-neuro-gene-therapy/
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FSHD News @fshd.bsky.social · 19/11/2024
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
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FSHD News @fshd.bsky.social · 19/11/2024
🇺🇸 👉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/
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FSHD News @fshd.bsky.social · 18/11/2024
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
t.co
https://www.sciencedirect.com/science/article/pii/S0960896624005388
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FSHD News @fshd.bsky.social · 18/11/2024
🇺🇸 👉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/
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FSHD News @fshd.bsky.social · 17/11/2024
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
t.co
https://www.nmd-journal.com/article/S0960-8966(24)00537-6/fulltext
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FSHD News @fshd.bsky.social · 16/11/2024
👉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...
mdpi.com
Molecular, Histological, and Functional Changes in Acta1-MCM;FLExDUX4/+ Mice
DUX4 is the major gene responsible for facioscapulohumeral dystrophy (FSHD). Several mouse models expressing DUX4 have been developed, the most commonly used by academic laboratories being ACTA1-MCM/F...
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FSHD News @fshd.bsky.social · 15/11/2024
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
sciencedirect.com
629P Co-producing UK care quality standards in facioscapulohumeral muscular dystrophy (FSHD) in partnership with people with FSHD, carers and healthcare professionals: a qualitative focus group study
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder causing progressive muscle weakness resulting in permanent disability, which deman…
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FSHD News @fshd.bsky.social · 15/11/2024
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.
sciencedirect.com
628P Development of a CRISPR/CasX 4q telomeric region ablation strategy for FSHD1 using an isogenic hiPSC line and a FSHD1 fibroblast cell line
Facioscapulohumeral muscular dystrophy type 1 (FSHD1), the second most common myopathy affecting adults, is linked to a contraction to less than 11 Re…
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