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FSHD News
@fshd.bsky.social
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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👉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
August 28, 2025 at 3:12 PM
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👉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 - Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy
jci.org
July 12, 2025 at 11:25 AM
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@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...
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...
www.prnewswire.com
July 11, 2025 at 5:21 PM
🇪🇺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/
April 25, 2025 at 2:40 PM
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👉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/
April 22, 2025 at 3:37 PM
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👉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
March 30, 2025 at 10:50 AM
👉 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...
www.biorxiv.org
March 22, 2025 at 6:12 PM
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👉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/
March 16, 2025 at 12:10 PM
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👉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...
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...
www.nmd-journal.com
March 14, 2025 at 2:07 PM
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👉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/
March 12, 2025 at 5:43 PM
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👉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
March 5, 2025 at 11:30 AM
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👉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...
February 28, 2025 at 4:50 PM
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👉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
https://pmc.ncbi.nlm.nih.gov/articles/PMC11817091/
t.co
February 18, 2025 at 3:32 PM
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👉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/
February 9, 2025 at 11:11 AM
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👉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
https://pmc.ncbi.nlm.nih.gov/articles/PMC11708601/
t.co
January 27, 2025 at 1:18 PM
👉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/
January 26, 2025 at 4:59 PM
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👉#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...
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...
pmc.ncbi.nlm.nih.gov
January 23, 2025 at 3:13 PM
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/...
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 ...
onlinelibrary.wiley.com
January 22, 2025 at 10:59 AM
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👉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...
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
www.nature.com
December 30, 2024 at 12:32 PM

👉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/
December 29, 2024 at 1:15 PM

👉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/
December 21, 2024 at 4:52 PM
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👉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/
December 10, 2024 at 4:42 PM
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...
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.
www.businesswire.com
December 6, 2024 at 5:13 PM
👉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
December 6, 2024 at 10:52 AM
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👉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
December 3, 2024 at 1:54 PM