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dm1myotonic.bsky.social

@dm1myotonic.bsky.social
53 followers 10 following 280 posts

Relaying the latest developments in the search for effective treatments for myotonic dystrophy type 1.

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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 05/10/2026
Italian study: Investigation of the pentamidine efficacy against myotonic dystrophy type 1 exploiting polymeric- and lipid-based nanoparticles www.sciencedirect.com/science/arti...
sciencedirect.com
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 02/10/2026
Jordanian/U.S. review: A Reassuring ECG Is Not Enough in Myotonic Dystrophy Type 1: A Systematic Review and Meta-analysis www.sciencedirect.com/science/arti...
sciencedirect.com
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 30/09/2026
Swiss study: Antibody deficiency in myotonic dystrophy type 1: A differential diagnosis below the radar rupress.org/jhi/article/...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 28/09/2026
Brazilian study: Lower urinary tract dysfunction in adults with myotonic dystrophy type 1: a multimodal clinical assessment www.sciencedirect.com/science/arti...
sciencedirect.com
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 25/09/2026
Spanish review: Cognitive decline over time in myotonic dystrophy type 1: a systematic review of longitudinal studies www.frontiersin.org/journals/neu...
frontiersin.org
Frontiers | Cognitive decline over time in myotonic dystrophy type 1: a systematic review of longitudinal studies
BackgroundMyotonic Dystrophy Type 1 (DM1) is a multisystem genetic disorder and the most common muscular dystrophy in adults. Central nervous system involvem...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 24/09/2026
Univ. of Florida study: A mouse model of myotonic dystrophy type 1 exhibits pain-like behavior and peripheral nociceptor hyperexcitability www.biorxiv.org/content/10.6...
biorxiv.org
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 15/09/2026
Dutch study: Annual assessment of ECG intervals in patients with myotonic dystrophy type 1 using a mobile 6‑lead ECG device: TeleCheck-DM1 www.sciencedirect.com/science/arti...
sciencedirect.com
Annual assessment of ECG intervals in patients with myotonic dystrophy type 1 using a mobile 6‑lead ECG device: TeleCheck-DM1
Cardiac involvement occurs in approximately 80% of patients with myotonic dystrophy type 1 (DM1), and annual follow-up with a routine 12‑lead ECG (rEC…
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 11/09/2026
UPenn study: Advanced Conduction Disease After Incident Heart Failure in Myotonic Dystrophy Type 1 onlinelibrary.wiley.com/doi/10.1111/...
onlinelibrary.wiley.com
Advanced Conduction Disease After Incident Heart Failure in Myotonic Dystrophy Type 1
Central Figure. Advanced Conduction Disease After Incident HF in Myotonic Dystrophy Type 1.
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 08/09/2026
$DYN Dyne Therapeutics to Present Additional One-Year Clinical Data from Phase 1/2 ACHIEVE Trial of Z-Basivarsen (DYNE-101) for Myotonic Dystrophy Type 1 (DM1) at Upcoming Medical Meetings investors.dyne-tx.com/news-release...
investors.dyne-tx.com
Dyne Therapeutics to Present Additional One-Year Clinical Data from Phase 1/2 ACHIEVE Trial of Z-Basivarsen (DYNE-101) for Myotonic Dystrophy Type 1 (DM1) at Upcoming Medical Meetings | Dyne Therapeutics, Inc.
- Data from a pooled dose group of participants initially enrolled in the multiple ascending dose portion of the trial to be compared against a matched natural history cohort - - Dyne also intends to provide the mean baseline value for video hand opening time (vHOT) in the ACHIEVE registrational
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 08/09/2026
Novartis provides update on delpacibart etedesiran (del-desiran) Phase III HARBOR study for the treatment of myotonic dystrophy type 1 (DM1). Drug failed to meet primary endpoint measuring efficacy. www.novartis.com/news/media-r...
novartis.com
Novartis provides update on delpacibart etedesiran (del-desiran) Phase III HARBOR study for the treatment of myotonic dystrophy type 1 (DM1)
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 04/09/2026
Int'l study: MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1 www.nature.com/articles/s41...
nature.com
MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1 - Nature Communications
This study shows that muscle stem cells fuse with existing muscle fibres in myotonic dystrophy type 1, producing centrally located nuclei with altered gene-expression states and reshaping diseased mus...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 01/09/2026
Novartis/Avidity study of Del-desiran for the Treatment of DM1 now "completed" as of July 29 on US govt clinical trials website clinicaltrials.gov/study/NCT064...
clinicaltrials.gov
ClinicalTrials.gov
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 31/08/2026
Couple of DM1 abstracts at ECS Congress. 1st: Spanish review, Long-term evolution in Myotonic Dystrophy Type 1: Predictors of cardiac involvement esc365.escardio.org/esc-congress...
esc365.escardio.org
ESC - Online Congress Platform
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 24/08/2026
Virginia Commonwealth/Indiana University review: Myotonic dystrophy type 1 - updates on mechanisms of multisystemic manifestations, genetically targeted therapeutics, and preparing for a postapproval world. www.lifescience.net/publications...
lifescience.net
Myotonic dystrophy type 1 - updates on mechanisms of multisystemic manifestations, genetically targeted therapeutics, and preparing for a postapproval world.
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 17/08/2026
Italian study: An Ultrastructural and Proteomic Analysis in DM1 Young Adults' Myoblasts: Stressed RER and Mitochondrial Dysfunction Involvement www.lifescience.net/publications...
lifescience.net
An Ultrastructural and Proteomic Analysis in DM1 Young Adults' Myoblasts: Stressed RER and Mitochondrial Dysfunction Involvement.
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 06/08/2026
Belgian study: Gastrointestinal manifestations are common and highly burdensome in patients with adult-onset myotonic dystrophy type 1 www.sciencedirect.com/science/arti...
sciencedirect.com
Gastrointestinal manifestations are common and highly burdensome in patients with adult-onset myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a progressive, multisystemic disorder in which gastrointestinal (GI) involvement is prevalent but frequently undere…
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 06/08/2026
PR: PepGen to Advance PGN-EDODM1 Into Highest Dose Cohort in Phase 2 FREEDOM2-DM1 Study Following DSMB Review www.businesswire.com/news/home/20...
businesswire.com
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 06/08/2026
Japanese study: Total energy expenditure assessed by doubly labeled water in patients with myotonic dystrophy type 1: Associations with body composition and functional status journals.sagepub.com/doi/10.1177/...
journals.sagepub.com
Sage Journals: Discover world-class research
Subscription and open access journals from Sage, the world's leading independent academic publisher.
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 04/08/2026
Canadian/Chinese study: A bitter melon natural compound ameliorates the myotonic dystrophy type 1 skeletal muscle phenotype in a sex-specific manner www.sciencedirect.com/science/arti...
sciencedirect.com
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 03/08/2026
Update from $VRTX on its myotonic dystrophy program: news.vrtx.com/news-release...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 03/08/2026
Dutch study: Energy expenditure and the accuracy of predictive equations in myotonic dystrophy type 1 journals.sagepub.com/doi/10.1177/...
journals.sagepub.com
Sage Journals: Discover world-class research
Subscription and open access journals from Sage, the world's leading independent academic publisher.
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 03/08/2026
Belgian study: 3D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot-Marie-Tooth Neuropathy Type 1A: A Proof-of-Concept Study onlinelibrary.wiley.com/doi/full/10....
onlinelibrary.wiley.com
<fc>3D</fc> Radiomic Texture Analysis of Quantitative Muscle <fc>MRI</fc> Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot–Marie‐Tooth Neuropathy Type <fc>1A</fc>: A Proof‐of‐Con...
In this proof-of-concept study, 3D radiomic texture analysis of quantitative muscle MRI (proton density fat fraction (PDFF, %) maps) distinguished the myogenic disease DM1 from the neurogenic disease....
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 31/07/2026
Korean study: Differential expression of microRNAs and other small RNAs in the serum of patients with myotonic dystrophy type 1 and facioscapulohumeral muscular dystrophy type 1 www.sciencedirect.com/science/arti...
sciencedirect.com
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 30/07/2026
Belgian study: Natural History of Adult-Onset Myotonic Dystrophy Type 1 Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes www.neurology.org/doi/10.1212/...
neurology.org
Natural History of Adult-Onset Myotonic Dystrophy Type 1 | Neurology
Background and ObjectivesAdult-onset myotonic dystrophy type 1 (DM1) is a progressive, multisystemic disorder, characterized by distal muscle weakness and myotonia. As disease-modifying therapies emer...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 28/07/2026
New French natural history study: An Ambispective Natural History Study in Myotonic Dystrophy Patients Linking Retrospective Data Captured From the DM-Scope Registry With a Prospective 24-month Follow-up Period (Track-DM) clinicaltrials.gov/study/NCT077...
clinicaltrials.gov
ClinicalTrials.gov
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 23/07/2026
ARTHEx et al study: Fatty-acid-based antimiR-23b delivery in the DMSXL model: A potential therapeutic strategy for brain dysfunction in myotonic dystrophy type 1 www.cell.com/cell-reports...
cell.com
Fatty-acid-based antimiR-23b delivery in the DMSXL model: A potential therapeutic strategy for brain dysfunction in myotonic dystrophy type 1
Piqueras-Losilla et al. show that the fatty-acid-conjugated antimiR-23b X82108 reaches the brain after systemic administration in mice and non-human primates. X82108 increases MBNL1/2 levels, reduces ...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 23/07/2026
Univ at Albany SUNY study: HSP90 Inhibition Partially Rescues Alternative Splicing Dysregulation in Cell Models of Myotonic Dystrophy www.jbc.org/article/S002...
jbc.org
HSP90 Inhibition Partially Rescues Alternative Splicing Dysregulation in Cell Models of Myotonic Dystrophy
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are multisystemic diseases caused by the expression of toxic expansion RNAs that sequester muscleblind-like (MBNL) proteins, resulting in extensive alt...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 20/07/2026
Swedish study: Cardiac pacing in myotonic dystrophy type 1: a retrospective cohort study on indications, diagnostic modalities, and long-term outcomes www.internationaljournalofcardiology.com/article/S016...
internationaljournalofcardiology.com
Cardiac pacing in myotonic dystrophy type 1: a retrospective cohort study on indications, diagnostic modalities, and long-term outcomes
Patients with myotonic dystrophy type 1 (DM1) are at increased risk of sudden cardiac death, and cardiac screening is recommended to identify patients who may benefit from cardiac pacing. We evaluated...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 20/07/2026
Chinese study: Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1 link.springer.com/article/10.1...
link.springer.com
Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1 - BMC Neurology
Introduction Myotonic dystrophy type 1 (DM1) is an autosomal dominant dynamic mutation disorder characterized by myotonia and muscle weakness. The genotype-phenotype relationship has not been clearly ...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 15/07/2026
Serbian study: Atypical Phenotype of Myotonic Dystrophy Type 1 with Variant Repeats at the Age of Diagnosis www.mdpi.com/2079-7737/15...
mdpi.com
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 13/07/2026
Summary of recent U. of Rochester pub: "Our findings suggest that myotonia isn't simply an uncomfortable symptom people experience, it appears to amplify the harmful effects of the disease in muscles." www.urmc.rochester.edu/news/story/d...
urmc.rochester.edu
Dialing Back Stiffness May Protect Muscles in Myotonic Dystrophy
New research suggests that myotonia—the delayed relaxation of muscles that causes stiffness—may be more than a symptom of myotonic dystrophy type 1. In animal models, eliminating myotonia improved mus...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 13/07/2026
Extension study of Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) commences clinicaltrials.gov/study/NCT077...
clinicaltrials.gov
ClinicalTrials.gov
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 11/07/2026
Bunch of myotonic dystrophy related abstracts at 19th International Congress on Neuromuscular Diseases Can search for them at below link: journals.sagepub.com/doi/epub/10....
journals.sagepub.com
Abstracts of the 19th International Congress on Neuromuscular Diseases 7th – 11th July 2026
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 09/07/2026
Univ. of Rochester/Yale/Friedrich-Baur-Institute study: Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy www.nature.com/articles/s41...
nature.com
Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy - Nature Communications
Myotonia is a hallmark symptom of myotonic dystrophy (DM1). Eliminating myotonia in a DM1 mouse model improved muscle function and corrected transcriptome dysregulation, supporting myotonia as a drive...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 09/07/2026
Costa Rican/Univ of Florida study: Tissue-specific CTG•CAG expansion rate and disease severity are modified by DNA repair genes expression levels in myotonic dystrophy type 1 patients www.sciencedirect.com/science/arti...
sciencedirect.com
Tissue-specific CTG•CAG expansion rate and disease severity are modified by DNA repair genes expression levels in myotonic dystrophy type 1 patients
Myotonic dystrophy type 1 (DM1) is a multisystemic autosomal dominant disorder caused by the expansion of an unstable CTG•CAG repeat in the DMPK gene.…
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 06/07/2026
MDF publication: Myotonic dystrophy family registry. The patient experience journals.sagepub.com/doi/10.1177/....
journals.sagepub.com
Sage Journals: Discover world-class research
Subscription and open access journals from Sage, the world's leading independent academic publisher.
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 06/07/2026
Quebec study: Aquatic training improves muscle strength and functional mobility in adults with myotonic dystrophy type 1: a pilot randomized trial www.nmd-journal.com/article/S096...
nmd-journal.com
Aquatic training improves muscle strength and functional mobility in adults with myotonic dystrophy type 1: a pilot randomized trial
Myotonic dystrophy type 1 (DM1) is a dominant inherited autosomal disorder. It is the most common neuromuscular disorder in adults with the prevalence of 9-14/100,000 individuals worldwide [1,2] which...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 06/07/2026
Multi-center study: A simple, sensitive microsample LC-MS assay for quercetin and isorhamnetin in mouse and human plasma: application to EMIQ treatment in myotonic dystrophy type 1 www.tandfonline.com/doi/full/10....
tandfonline.com
A simple, sensitive microsample LC-MS assay for quercetin and isorhamnetin in mouse and human plasma: application to EMIQ treatment in myotonic dystrophy type 1
Quercetin, a dietary flavonoid with emerging therapeutic relevance in myotonic dystrophy type 1 (DM1), has low solubility and poor oral bioavailability. Enzymatically modified isoquercitrin (EMIQ),...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 01/07/2026
Design Therapeutics Announces Initiation of Patient Dosing in Phase 1 Multiple Ascending Dose Trial of DT-818 for Myotonic Dystrophy Type-1 [bit odd that its open label...] finance.yahoo.com/healthcare/a...
finance.yahoo.com
Design Therapeutics Announces Initiation of Patient Dosing in Phase 1 Multiple Ascending Dose Trial of DT-818 for Myotonic Dystrophy Type-1
GeneTAC® small molecule designed to selectively reduce transcription of the mutant DMPK allele and address the underlying cause of DM1 CARLSBAD, Calif., June 30, 2026 (GLOBE NEWSWIRE) -- Design Therap...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 25/06/2026
Dutch study: Generation of isogenic rescue iPSC lines by targeted CTG-repeat excision for myotonic dystrophy type 1 www.sciencedirect.com/science/arti...
sciencedirect.com
Generation of isogenic rescue iPSC lines by targeted CTG-repeat excision for myotonic dystrophy type 1
An expanded CTG repeat in the Dystrophia Myotonica Protein Kinase (DMPK) gene is associated with myotonic dystrophy type 1 (DM1), an autosomal dominan…
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 24/06/2026
Northeastern/Rockefeller/Wash U study: Bottlebrush polymer conjugates for enhanced antisense oligonucleotide therapy in myotonic dystrophy type 1 academic.oup.com/nar/article/...
academic.oup.com
Bottlebrush polymer conjugates for enhanced antisense oligonucleotide therapy in myotonic dystrophy type 1
Abstract. Oligonucleotides are a promising class of genetic medicine for myotonic dystrophy type 1 (DM1), the most common adult-onset muscular dystrophy. H
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Reposted by @dm1myotonic.bsky.social
Myotonic Dystrophy Foundation @myotonicstrong.bsky.social · 24/06/2026
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: myotonic.org/wp-content/u...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 18/06/2026
MDF/Third Plateau study: Exploring barriers to clinical trial readiness among the myotonic dystrophy community: a mixed-methods study link.springer.com/article/10.1...
link.springer.com
Exploring barriers to clinical trial readiness among the myotonic dystrophy community: a mixed-methods study - Orphanet Journal of Rare Diseases
Myotonic dystrophy (DM) is a multisystemic disorder characterized by significant heterogeneity in symptom manifestation, progression, and severity. This variability complicates clinical trial design a...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 16/06/2026
Int'l study: Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey link.springer.com/article/10.1...
link.springer.com
Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey - BMC Neurology
Background Prominent symptoms in myotonic dystrophy (DM) negatively affect the hands/arms (DM1), legs (DM2), or relate to fatigue. Myotonia is experienced by 90% of people with DM1 and is generally th...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 15/06/2026
German review: Current biomarker development in myotonic dystrophies link.springer.com/article/10.1...
link.springer.com
Current biomarker development in myotonic dystrophies - Journal of Neurology
Myotonic dystrophies (DM) are autosomal dominant, multisystemic disorders characterized by myotonia and progressive muscle weakness. Extramuscular multisystem symptoms include involvement of the respi...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 12/06/2026
French study: Determinants of diaphragm ultrasound and its diagnostic performance for predicting respiratory status in myotonic dystrophy type 1. www.sciencedirect.com/science/arti...
sciencedirect.com
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 11/06/2026
Quebec review: Gynecological and Obstetrical Issues Experienced by Women Diagnosed with Myotonic Dystrophy Type 1: A Scoping Review journals.sagepub.com/doi/10.1177/....
journals.sagepub.com
Gynecological and Obstetrical Issues Experienced by Women Diagnosed with Myotonic Dystrophy Type 1: A Scoping Review - Cynthia Gagnon, Catherine Savard, Isabelle Fisette-Paulhus, Azadeh Tamizi, Alice ...
Background: Myotonic dystrophy type 1 (DM1) impacts women’s health in several ways, causing gynecological and obstetrical issues, among others. Documenting the ...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 11/06/2026
Korean study: Neurofilament light chain reflects motor impairment in myotonic dystrophy type 1 www.frontiersin.org/journals/neu...
frontiersin.org
Frontiers | Neurofilament light chain reflects motor impairment in myotonic dystrophy type 1
IntroductionMyotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG trinucleotide repeat expansion in the dystrophia myotonica-protein kinase (DM...
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 09/06/2026
Int'l study: Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease pathsocjournals.onlinelibrary.wiley.com/doi/10.1002/...
pathsocjournals.onlinelibrary.wiley.com
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dm1myotonic.bsky.social @dm1myotonic.bsky.social · 08/06/2026
$IONS/Quebec study: Antisense-Mediated Gene Therapy Targeting DMPK Restores Cardiac Ion Channel Function and Electrical Stability in Myotonic Dystrophy Type 1 www.sciencedirect.com/science/arti...
sciencedirect.com
Antisense-Mediated Gene Therapy Targeting DMPK Restores Cardiac Ion Channel Function and Electrical Stability in Myotonic Dystrophy Type 1
Myotonic dystrophy type 1 (DM1) is characterized by toxic RNA gain-of-function leading to cardiac conduction defects and life-threatening arrhythmias.…
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