@dm1myotonic.bsky.social
Relaying the latest developments in the search for effective treatments for myotonic dystrophy type 1.
Japanese study: Potential of Nanopore Long Read Sequencing for Determining CTG Repeat Lengths in the DMPK1 Gene During Prenatal or Preimplantation Genetic Testing obgyn.onlinelibrary.wiley.com/doi/10.1002/...
obgyn.onlinelibrary.wiley.com
November 20, 2025 at 2:13 PM
Japanese study: Potential of Nanopore Long Read Sequencing for Determining CTG Repeat Lengths in the DMPK1 Gene During Prenatal or Preimplantation Genetic Testing obgyn.onlinelibrary.wiley.com/doi/10.1002/...
Italian review: From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy www.sciencedirect.com/science/arti...
From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy
Short tandem repeat expansions in C9orf72, DMPK, and CNBP genes cause amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) and myotonic dys…
www.sciencedirect.com
November 20, 2025 at 2:11 PM
Italian review: From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy www.sciencedirect.com/science/arti...
Spanish study: Characterization of DMPK and MBNL1 expression in cell models of myotonic dystrophy: a platform for drug screening academic.oup.com/narmolmed/ar...
Characterization of DMPK and MBNL1 expression in cell models of myotonic dystrophy: a platform for drug screening
Abstract. Myotonic dystrophy type I (DM1) is caused by CTG repeat expansions in the DMPK gene leading to mRNA toxicity and sequestration of the splicing re
academic.oup.com
November 19, 2025 at 1:58 PM
Spanish study: Characterization of DMPK and MBNL1 expression in cell models of myotonic dystrophy: a platform for drug screening academic.oup.com/narmolmed/ar...
Japanese study: Corpus Callosum Diffusion Restriction in Neonatal Congenital Myotonic Dystrophy www.cureus.com/articles/416...
www.cureus.com
November 18, 2025 at 1:36 PM
Japanese study: Corpus Callosum Diffusion Restriction in Neonatal Congenital Myotonic Dystrophy www.cureus.com/articles/416...
French study: Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1 www.researchgate.net/publication/...
(PDF) Alternative splicing of SORBS1 affects neuromuscular junction formation and stability in myotonic dystrophy type 1
PDF | Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease characterized by a CTG repeat expansion in the 3’ untranslated region of... | Find, read and cite all the research you ne...
www.researchgate.net
November 18, 2025 at 1:34 PM
French study: Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1 www.researchgate.net/publication/...
Turkish study: Clinical features, quality of life, and fatigue in children with myotonic dystrophy type 1: A cross-sectional study www.sciencedirect.com/science/arti...
Clinical features, quality of life, and fatigue in children with myotonic dystrophy type 1: A cross-sectional study
Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy, with variable pediatric presentations. Data on quality of life (QoL) and …
www.sciencedirect.com
November 17, 2025 at 1:36 PM
Turkish study: Clinical features, quality of life, and fatigue in children with myotonic dystrophy type 1: A cross-sectional study www.sciencedirect.com/science/arti...
Quebec study: Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping review www.sciencedirect.com/science/arti...
Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping review
Unlike congenital and adult phenotypes, ChDM1 often involves minimal muscular symptoms with cognitive or behavioral difficulties being the most common…
www.sciencedirect.com
November 17, 2025 at 1:35 PM
Quebec study: Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping review www.sciencedirect.com/science/arti...
Quebec study: A 12-Week Strength Training Improves Mitochondrial Respiration, H2O2 Emission and Skeletal Muscle Integrity in Women With Myotonic Dystrophy Type 1 onlinelibrary.wiley.com/doi/10.1111/...
A 12‐Week Strength Training Improves Mitochondrial Respiration, H2O2 Emission and Skeletal Muscle Integrity in Women With Myotonic Dystrophy Type 1
Background Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats in the DMPK gene, causing the accumulation of toxic RNA that sequesters RNA-binding proteins. Clinically, DM1 is characte...
onlinelibrary.wiley.com
November 17, 2025 at 1:33 PM
Quebec study: A 12-Week Strength Training Improves Mitochondrial Respiration, H2O2 Emission and Skeletal Muscle Integrity in Women With Myotonic Dystrophy Type 1 onlinelibrary.wiley.com/doi/10.1111/...
Serbian study: HSALR Mice Exhibit Co-Expression of Proteostasis Genes Prior to Development of Muscle Weakness www.mdpi.com/1422-0067/26...
www.mdpi.com
November 13, 2025 at 12:49 PM
Serbian study: HSALR Mice Exhibit Co-Expression of Proteostasis Genes Prior to Development of Muscle Weakness www.mdpi.com/1422-0067/26...
Cincinnati/German study: Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness www.mdpi.com/1422-0067/26...
www.mdpi.com
November 13, 2025 at 12:47 PM
Cincinnati/German study: Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness www.mdpi.com/1422-0067/26...
$ARWR adds a couple of arms to its P1/2a myotonic dystrophy study, pushes out primary completion date 3 months clinicaltrials.gov/study/NCT061...
ClinicalTrials.gov
clinicaltrials.gov
November 11, 2025 at 2:03 PM
$ARWR adds a couple of arms to its P1/2a myotonic dystrophy study, pushes out primary completion date 3 months clinicaltrials.gov/study/NCT061...
University of Illinois study: Aberrant Splicing of Dnm1l Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1) www.ahajournals.org/doi/10.1161/...
Aberrant Splicing of Dnm1l Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1) | Circulation: Genomic and Precision Medicine
Background: DM1 is caused by a (CTG)n trinucleotide repeat expansion in the 3'UTR of the DMPK gene. Once expressed, repeat RNA form toxic hairpins that sequester the muscle blind-like
(MBNL) family of...
www.ahajournals.org
November 11, 2025 at 1:54 PM
University of Illinois study: Aberrant Splicing of Dnm1l Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1) www.ahajournals.org/doi/10.1161/...
Norwegian study: Psychometric properties of MFM32 in Myotonic Dystrophy type 1 www.sciencedirect.com/science/arti...
Psychometric properties of MFM32 in Myotonic Dystrophy type 1
To examine the psychometric properties of the Motor Function Measure 32 (MFM32) in adults with Myotonic Dystrophy type 1(DM1). MFM32 is an instrument …
www.sciencedirect.com
November 6, 2025 at 2:03 PM
Norwegian study: Psychometric properties of MFM32 in Myotonic Dystrophy type 1 www.sciencedirect.com/science/arti...
International review: 284th ENMC International Workshop: Cognitive and behavioral abnormalities in pediatric DM1; what should we measure in preparation for clinical trials? Hoofddorp, The Netherlands, January 24-26 2025 www.nmd-journal.com/article/S096...
284th ENMC International Workshop: Cognitive and behavioral abnormalities in pediatric DM1; what should we measure in preparation for clinical trials? Hoofddorp, The Netherlands, January 24-26 2025
Eighteen participants from Italy, France, Germany, The Netherlands, Sweden, UK, Canada
and the US met in Hoofddorp, The Netherlands, to discuss clinical and preclinical
biomarkers and outcome measures...
www.nmd-journal.com
November 3, 2025 at 1:43 PM
International review: 284th ENMC International Workshop: Cognitive and behavioral abnormalities in pediatric DM1; what should we measure in preparation for clinical trials? Hoofddorp, The Netherlands, January 24-26 2025 www.nmd-journal.com/article/S096...
Multi-center U.S. study: Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States www.neurology.org/doi/10.1212/...
Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States | Neurology Genetics
Background and ObjectivesMyotonic dystrophy type 1 and type 2 (DM1/DM2) are multisystemic disorders that may
affect heart function in addition to the progressive skeletal muscle weakness and
myotonia ...
www.neurology.org
October 31, 2025 at 4:19 PM
Multi-center U.S. study: Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States www.neurology.org/doi/10.1212/...
Costa Rica/Univ. of Florida study: Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity jmg.bmj.com/content/earl...
Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity
Background Myotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in D...
jmg.bmj.com
October 30, 2025 at 12:59 PM
Costa Rica/Univ. of Florida study: Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity jmg.bmj.com/content/earl...
Carnegie Mellon study: Synthesis of Janus Bases for Targeting C-G and U–U Pairs of CUG-RNA Repeats Associated with Myotonic Dystrophy Type 1 pubs.acs.org/doi/10.1021/...
Synthesis of Janus Bases for Targeting C-G and U–U Pairs of CUG-RNA Repeats Associated with Myotonic Dystrophy Type 1
We report the synthesis of bifacial Janus bases E and K, along with their corresponding γ peptide nucleic acid monomers, designed to recognize C-G and U–U pairs within CUG-RNA repeats implicated in My...
pubs.acs.org
October 28, 2025 at 1:31 AM
Carnegie Mellon study: Synthesis of Janus Bases for Targeting C-G and U–U Pairs of CUG-RNA Repeats Associated with Myotonic Dystrophy Type 1 pubs.acs.org/doi/10.1021/...
Important (!!!) new int'l publication:288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. www.nmd-journal.com/article/S096...
288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. 16-18 May 202...
Myotonic dystrophy (DM) is a complex, multisystemic disorder that affects a broad
range of organ systems beyond skeletal muscle, including the heart, lungs, endocrine
system, gastrointestinal (GI) tra...
www.nmd-journal.com
October 24, 2025 at 3:25 PM
Important (!!!) new int'l publication:288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. www.nmd-journal.com/article/S096...
French study: Predictors of respiratory failure and survival in myotonic dystrophy type 1 journals.sagepub.com/doi/10.1177/...
Predictors of respiratory failure and survival in myotonic dystrophy type 1 - Marie-Anne Melone, Ivana Dabaj, Maxime Patout, André Gillibert, Elise Artaud-Macari, Lucie Guyant-Marechal, Anne-Laure Bed...
Introduction Myotonic dystrophy type 1 (DM1) is characterized by a lifelong progressive muscular weakness associated with life-threatening events such as chroni...
journals.sagepub.com
October 21, 2025 at 10:43 PM
French study: Predictors of respiratory failure and survival in myotonic dystrophy type 1 journals.sagepub.com/doi/10.1177/...
Yale/NCI study: A novel discovery of elevated risk of neuroendocrine tumors in patients with myotonic dystrophy www.sciencedirect.com/science/arti...
A novel discovery of elevated risk of neuroendocrine tumors in patients with myotonic dystrophy
Cancer risk is higher in patients with myotonic dystrophy (DM) compared to the general population. We aimed to determine the frequency, types and asso…
www.sciencedirect.com
October 17, 2025 at 12:46 PM
Yale/NCI study: A novel discovery of elevated risk of neuroendocrine tumors in patients with myotonic dystrophy www.sciencedirect.com/science/arti...
Review in Continuum Journal on Myotonic Dystrophy
continuum.aan.com/doi/10.1212/...
continuum.aan.com/doi/10.1212/...
Myotonic Dystrophy | Continuum
ABSTRACT OBJECTIVE This article reviews the genetic basis, pathogenic mechanisms, epidemiology, clinical
presentation, multiorgan involvement, and multidisciplinary management of myotonic
dystrophy ty...
continuum.aan.com
October 3, 2025 at 11:56 AM
Review in Continuum Journal on Myotonic Dystrophy
continuum.aan.com/doi/10.1212/...
continuum.aan.com/doi/10.1212/...
Japanese study: In Vivo Evaluation of CTG Repeat-Affected Muscle Pathology in a Myotonic Dystrophy Model Mouse Using Electromyography and Fluorescence In Situ Hybridization link.springer.com/protocol/10....
In Vivo Evaluation of CTG Repeat-Affected Muscle Pathology in a Myotonic Dystrophy Model Mouse Using Electromyography and Fluorescence In Situ Hybridization
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, caused by an expanded CTG repeat in the DMPK gene. Patients with DM1 develop multisystemic symptoms including myotonia, which manifests as delayed relaxation of muscles following...
link.springer.com
October 1, 2025 at 1:06 PM
Japanese study: In Vivo Evaluation of CTG Repeat-Affected Muscle Pathology in a Myotonic Dystrophy Model Mouse Using Electromyography and Fluorescence In Situ Hybridization link.springer.com/protocol/10....
Italian study: Adherence to Non-Invasive Ventilation in Steinert Disease: Clinical and Psychological Insights www.mdpi.com/2076-3425/15...
www.mdpi.com
September 29, 2025 at 12:37 PM
Italian study: Adherence to Non-Invasive Ventilation in Steinert Disease: Clinical and Psychological Insights www.mdpi.com/2076-3425/15...
French/Italian study: Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1 jamanetwork.com/journals/jam...
ECG vs EPS in Myotonic Dystrophy Type 1 Risk Stratification
This cohort study investigates if the identification of patients with myotonic dystrophy type 1 who are at risk for major bradyarrhythmic events and eligible for prophylactic pacing should be based on...
jamanetwork.com
September 25, 2025 at 12:52 PM
French/Italian study: Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1 jamanetwork.com/journals/jam...