FSHD News

FSHD NEWS over the world.
Research and patients networks
#FSHD #CureFSHD
#WorldFSHDDay = June 20th

[FSHD News @mpcfshd]

🇧🇪🇦🇷🇬🇧
👉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
👉https://t.co/qOSd0TlRzB

@DimusChile @VivirconFSHD @MacaDiazU @Dyne_tx @abrafeu

[FSHD News @mpcfshd]

🧬@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

https://t.co/6cbfkEs4GX

[FSHD News @mpcfshd]

🇯🇵
👉Iron supplementation alleviates pathologies in a mouse model of #FSHD

💡DUX4-provoked toxicity is involved in the activation of the ferroptosis-related pathway

📰https://t.co/zqZb3gpjd8
(pdf) https://t.co/QbZZoW2aNi

@FSHD_ST @AJCLindsy

[FSHD Society @FSHDSociety]

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

[FSHD News @mpcfshd]

🇪🇺👉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

📰https://t.co/mVuxqaNhaB

[FSHD News @mpcfshd]

🇺🇸🇪🇺
👉Strength and functional correlates of reachable workspace in #FSHD

Correlations between total relative surface area and upper extremity strength measured by quantitative muscle testing

https://t.co/MSF3PwvrAU

[FSHD News @mpcfshd]

🇪🇺🇳🇱
👉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://t.co/tTvqXbz4A2
@helenmwalker44 @PiliCamano
@MyologyLab

[FSHD News @mpcfshd]

👍@SOLVEFSHD Announces Strategic Collaboration with @transcriptabio to Advance Drug Discovery for FSHD

@MDUK_News @vishnuvy @Brandon__Alexan @TREAT_NMD

[FSHD News @mpcfshd]

🇺🇸🇬🇧
👉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.

https://t.co/MOZupQRoWO

[FSHD News @mpcfshd]

🇦🇺
👉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://t.co/oIZJpDk10E

@FSHD
@muscles4muscle
@RitaJSerrano

[FSHD News @mpcfshd]

🇪🇺🇺🇸
👉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.

📑 https://t.co/d1SxM03goL

@helenmwalker44

[FSHD News @mpcfshd]

🇪🇺🇫🇷🇮🇹
👉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://t.co/H2K93J5QbG

@NizarSaad20
@Matt_Muscle_Guy
@TheChair1130

[FSHD News @mpcfshd]

🇪🇺
👉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.

📰https://t.co/yLMeTn0rsy

[FSHD News @mpcfshd]

🇨🇱
👉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

📰https://t.co/pYJdniY4J9

@DimusChile @VivirconFSHD @MacaDiazU

[FSHD News @mpcfshd]

🇨🇳
👉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

https://t.co/1mpXs68lxp

@FSHD_China @PiliCamano @FSHD_Leiden
@MyologyLab

[Muscle Cell News @musclecellnews]

💪 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 | https://t.co/oT5A6k4s6g

[FSHD News @mpcfshd]

🇪🇺🇦🇹
👉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://t.co/XENOv8abVB

@Oliver_S_MD
@MacaDiazU
@BaudotAnais

[FSHD News @mpcfshd]

🇺🇸
👉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

📰 https://t.co/rvqXQzECCh

@fdphilp @sduguez_lab @rmunil @PhysioForMotion
@LivUniPhysio

[FSHD News @mpcfshd]

🇪🇺👉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

📑https://t.co/tEhuZmkK9T

@PiliCamano @FshdDonostia @helenmwalker44

[FSHD News @mpcfshd]

🇺🇸
👉#DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways

💡HSATII-RNP formation on #RNA processing pathways provides valuable insight underlying #FSHD.

https://t.co/tXhWFlcLYB
@RNA_biologist @lajollalabs
@Matt_Muscle_Guy