DM1 Steinert

We need to hear from your #myotonicDystrophy doctors! Delays in diagnosis and gaps in treatment access persist—but their expertise can change that. Share the quick, anonymous DM INSIGHT survey with your providers to help improve care, access & outcomes: 🔗 www.myotonic.org/insight

Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles - European Journal of Human Genetics European Journal of Human Genetics - Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles

Dutch study: Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles www.nature.com/articles/s41...

“This Disease Is a Verdict You Must Live With for the Rest of Your Life”: Experiences and Perspectives From People Living With Adult-Onset Myotonic Dystrophy Type 1 - Kristin Allergodt, Bente Kristens... Myotonic dystrophy type 1 (DM1) is a progressive, multisystemic neuromuscular disease. DM1 has a biopsychosocial impact, causing physical and cognitive impairme...

Danish/Norse study: “This Disease Is a Verdict You Must Live With for the Rest of Your Life”: Experiences and Perspectives From People Living With Adult-Onset Myotonic Dystrophy Type 1 journals.sagepub.com/doi/10.1177/...

Dutch study: Evaluation of echocardiography monitoring in myotonic dystrophy type 1 patients www.frontiersin.org/journals/car...

Cómo es vivir con una #EnfermedadRara en EEUU

#SegurodeSalud #SeguroPrivado #SanidadPrivada

💬 “Halfway through the year & I have spent 8k out of pocket for medical costs.” 💬 “Keeping on top of the paperwork is a full time job.”
How does navigating insurance & health systems affect your life with #MyotonicDystrophy? ✍️ 💚🔗 #ShareYourStory at: www.myotonic.org/share-your-s...

💬 Living with #myotonicDystrophy (DM1 or DM2) or a #Caregiver for someone who is? This July–August, follow our weekly prompts to #ShareYourStory!💚 Your experiences can improve care, coverage & understanding.✍️ This week’s topic: Getting to Medical Appointments. 👉 www.myotonic.org/share-your-s...

🚨 Exciting news from Avidity Biosciences! Enrollment is complete for the global Phase 3 HARBOR trial for treatment of adults (16+) living with #MyotonicDystrophy Type 1 (#DM1) - marking a big step forward for the DM community!🌍🔗Read their letter to the community: www.myotonic.org/sites/defaul...

Assessment of psychosocial adjustment and reduced initiative in children with myotonic dystrophy type 1: a pilot study on the reliability and clinical utility of a short parent-report questionnaire We describe the reliability and clinical utility of the personal adjustment and role skills scale III (PARS-III) for screening of psychosocial adjustment in children with myotonic dystrophy type 1 (DM...

Dutch study: Assessment of psychosocial adjustment and reduced initiative in children with myotonic dystrophy type 1: a pilot study on the reliability and clinical utility of a short parent-report questionnaire www.ejpn-journal.com/article/S109...

Explore MDF's Exercise Guide for people living with #MyotonicDystrophy—packed with practical tips, gentle habits, and encouragement to help you move with confidence every day. 💚 Learn more at: www.myotonic.org/sites/defaul...

miR-107 represses DMPK and is sequestered by CUG repeats triggering the MSI2/miR-7 pathogenesis axis in myotonic dystrophy Bargiela and colleagues report that miR-107 is depleted in myotonic dystrophy type 1 (DM1) due to sequestration by expanded CUG repeats. This results in the derepression of miR-107 targets such as MSI...

Spanish/UK/French/Ecuador study: miR-107 represses DMPK and is sequestered by CUG repeats triggering the MSI2/miR-7 pathogenesis axis in myotonic dystrophy www.cell.com/molecular-th...

Elevated Cancer Prevalence Identified at Specific Anatomical Sites Among People With Myotonic Dystrophy Using a Population‐Based Sample Introduction/Aim To optimize patient care and cancer screening in myotonic dystrophy (DM), it is crucial to clarify cancer risks by DM type to guide targeted screening and prevention efforts. This s...

US multi-center study: Elevated Cancer Prevalence Identified at Specific Anatomical Sites Among People With Myotonic Dystrophy Using a Population-Based Sample onlinelibrary.wiley.com/doi/10.1002/...

Repeat length as a key determinant for disease severity and antisense oligonucleotide activity in myotonic dystrophy type 1 To study heterogeneity in myotonic dystrophy type 1, an immortalized and isogenic cell panel with varying repeat expansion sizes was generated by a Cas9-nickase approach. Unlike in primary patient cul...

Dutch study: Repeat length as a key determinant for disease severity and antisense oligonucleotide activity in myotonic dystrophy type 1 www.cell.com/molecular-th...

Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches - Journal of Human Genetics Journal of Human Genetics - Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches

Japanese review: Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches www.nature.com/articles/s10...

Portuguese review: Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective www.mdpi.com/1422-0067/26...

Prevalence and prognostic impact of cardiac resonance abnormalities in myotonic dystrophy patients Myotonic dystrophy (DM) is an autosomal dominant inherited neuromuscular disorder caused by an abnormal expansion of an unstable CTG trinucleotide repeat in untranslated regions of messenger RiboNucle...

Italian review: Prevalence and prognostic impact of cardiac resonance abnormalities in myotonic dystrophy patients www.nmd-journal.com/article/S096...

💚📘 This year, the DM community showed up with strength, heart, & hope — from expanding support groups to pushing for research & policy change. #MyotonicDystrophy progress is real, & it's because of you. Explore the highlights, stories, & impact in our full report: www.myotonic.org/sites/defaul...

Our ArthemiR™ clinical trial is now global, and we are enrolling in nine locations around the world! | ARTHEx Biotech Our ArthemiR™ clinical trial is now global, and we are enrolling in nine locations around the world! In the United States, we have sites in Florida, Virginia, and Kansas; we have sites in Canada (Queb...

Ensayos clínicos
Clinical Trials
#DM1 #DistrofiaMiotónica #MyotonicDystrophy
www.linkedin.com/posts/arthex...

Who funds biomedical research? @nature.com
www.nature.com/articles/d41...

🧠💬 Got questions about mental health and #myotonicDystrophy? Join our Ask the Expert webinar on mental health & DM with Missy Dixon, PhD — Licensed Psychologist and Assistant Professor of Pediatrics at the University of Utah — to get the answers you need! events.zoom.us/ev/Aq_1xcYZM...

PepGen to Focus on Development of Promising DM1 Program Following 10 mg/kg PGN-EDO51 Update BOSTON, May 28, 2025--PepGen Inc. (Nasdaq: PEPG), a clinical-stage biotechnology company advancing the next generation of oligonucleotide therapies, today announced that based on the levels of dystrop...

Glad to see #PepGen focus resources on promising type 1 myotonic dystrophy oligo by getting out of DMD:

finance.yahoo.com/news/pepgen-...

Ahora disponible en español - ¡Guía nutricional para personas con distrofia miotónica! www.myotonic.org/sites/defaul...

Myotonic Dystrophy In Motion Awareness Month

2025 #MyotonicDystrophy In Motion Awareness Month

events.zoom.us/ev/Arvj_mjnG...

(PDF) Theory of Mind in Myotonic Dystrophy Type 1 Is Associated With Cortical Gyrification and White Matter Hyperintensities PDF | Background Theory of Mind (ToM) Refers to the ability to infer other people's thoughts (Cognitive ToM) and emotions (Affective ToM). Myotonic... | Find, read and cite all the research you need o...

French study: Theory of Mind in Myotonic Dystrophy Type 1 Is Associated With Cortical Gyrification and White Matter Hyperintensities www.researchgate.net/publication/...

YouTube video by Myotonic Dystrophy Foundation Applying for Myotonic Dystrophy Research Funding '25: Peer Reviewed Medical Research Program (PRMRP)

📢 #myotonicDystrophy researchers: Applying for FY25 #PRMRP funding? Watch MDF’s webinar to strengthen your application for a share of $150M in federal grants. Includes Q&A with Interim Program Manager Kathryn Argue, PhD. ⭐ LOIs due June 9th! 🎥 youtu.be/LavZ-LGUWSA

May is #MentalHealthAwarenessMonth! Whether you're living with #MyotonicDystrophy or caring for someone who is - mental health matters, & help is in reach. 💚📘 Download MDF's DM & Mental Health Handbook for support, insights, & resources:
www.myotonic.org/sites/defaul...

📢 Let's get moving this July! 💚 Join MDF for #MyotonicDystrophy #InMotion Awareness Month! 🏋️‍♀️ Register once to attend weekly #MovementMondays 💪 Virtual Happy Hours 🤝 and a bonus Stump the Doctor 🩺 session. 🔗 Sign up: www.myotonic.org/in-motion-2025

Sage Journals: Discover world-class research Subscription and open access journals from Sage, the world's leading independent academic publisher.

Dutch/French/Irish study: Altered reversal and extinction learning in the DMSXL mouse model of type I myotonic dystrophy (DM1): An exploratory study journals.sagepub.com/doi/10.1177/...

Two distinct trajectories of brain volume loss in myotonic dystrophy type 1 via machine learning Linking brain imaging findings to the symptoms of myotonic dystrophy Type 1 is challenging. Imokawa et al. used machine learning to identify two brain volu

Japanese study: Two distinct trajectories of brain volume loss in myotonic dystrophy type 1 via machine learning academic.oup.com/braincomms/a...

Our camera roll after the 2025 MDF Conference! 👀💚 Share your favorite photos & moments with us using #myotonicDystrophy & #MDF2025! Thank you to our Lead Sponsor, Avidity Biosciences, and our Diamond Sponsors, Dyne Therapeutics & ARTHEx Biotech, for helping to make this event possible!