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Myotonic dystrophy

Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence

Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (37)Meta-analysis (7)Treatment guideline (7)Systematic review (11)Randomized trial (7)Phase 3 study (5)Clinical trial (148)Review article (142)Early study (phase 1 or 2) (12)Case report (114)Laboratory or animal study (33)Commentary or editorial (59)Retracted publication (1) Studies currently recruiting participants only (33)

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Publications and studies (1161)

• Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development. (2026/06/01) ♡
• 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. (2026/06/01) ♡
• A pilot study on the application of Oxford Nanopore PromethION sequencing with adaptive sampling for DMPK repeat expansion sizing in myotonic dystrophy type 1. (2026/05/28) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. RNA Therapeutics Targeting Skeletal Muscle: Emerging Antisense and Gene-Modifying Strategies. (2026/05/28) ♡
• Myotonic dystrophy type 2 is frequently diagnosed in Poland. (2026/05/27) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. [Dystrophia myotonica type 1 associated with diffuse astrocytoma showing gliomatosis cerebri-like imaging finding: a case report]. (2026/05/26) ♡
• Neurofilament light chain reflects motor impairment in myotonic dystrophy type 1. (2026/05/26) ♡
• Determinants of diaphragm ultrasound and its diagnostic performance for predicting respiratory status in myotonic dystrophy type 1. (2026/05/26) ♡
• Evaluating the performance of ChatGPT in responding to myotonic dystrophy type 1 patient inquiries: a specialist physician-based study. (2026/05/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful Minimally Invasive Mitral Valve Repair and Maze Procedure in a Patient With Myotonic Dystrophy. (2026/05/25) ♡
• Muscleblind-like proteins dimerize by forming disulfide bonds to regulate alternative splicing and pathogenic RNA foci formation. (2026/05/20) ♡
• A chemoinformatics-guided platform for efficient discovery of RNA-binding small molecules: Proof-of-concept for myotonic dystrophy type 1. (2026/05/11) ♡
• Myotonia: Recognition, Evaluation, and Differential Diagnosis. (2026/05/10) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Oleic Acid Levels in HSA(LR) Mouse Model of Myotonic Dystrophy Type 1. (2026/05/09) ♡
• Quantification of disease-associated RNA tandem repeats by nanopore sensing. (2026/05/08) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials. (2026/05/01) ♡
• Predictors of respiratory failure and survival in myotonic dystrophy type 1. (2026/05/01) ♡
• Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios. (2026/05/01) ♡
• Multidimensional Measurements of Dysarthria in Myotonic Dystrophy Type 1. (2026/05/01) ♡
• Distinct cellular effects of myotonic dystrophy type 2 repeat-associated non-AUG tetrapeptides. (2026/05/01) ♡
• Sex Differences in Cardiac Involvement in Adults With Myotonic Dystrophy Type 1: A Multicenter Study. (2026/05/01) ♡
• Short-term course of the neuropsychological profile in myotonic dystrophy type 1: a 12-month longitudinal study. (2026/04/28) ♡
• Myotonic dystrophy type 1 with normal pressure hydrocephalus-like neuroimaging and a negative tap test: diagnostic pitfalls and management considerations. (2026/04/27) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. dMyc suppresses CTG-induced cytotoxicity in the Drosophila model of DM1 by reducing autophagy and cell death. (2026/04/20) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Two cases of congenital myotonic dystrophy type 1 caused by DMPK gene variants]. (2026/04/15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1. (2026/04/14) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Effect of exercise training on clinical and physiological variables in adults with myotonic dystrophy type 1: a systematic review and meta-analysis. (2026/04/10) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Thrombosis in Neuromuscular Medicine: Current Evidence, Unmet Needs, and Future Directions. (2026/04/08) ♡
• Developing endpoints for the cardiac burden in myotonic dystrophy type 1: A workshop report. (2026/04/07) ♡
• Modulation of L-Type Calcium Currents by Resveratrol-Induced Myogenesis in C2C12 Cells. (2026/04/06) ♡
• The novel (TCTG)(n) motif in CNBP expanded alleles: composition, dynamics and genotype-phenotype correlation in Myotonic dystrophy type 2 (DM2). (2026/04/05) ♡
• Different operationalizations of the capability approach in evaluating rehabilitation for persons with neuromuscular diseases: a mixed-methods study. (2026/04/01) ♡
• Reduced Muscular Carnosine in Proximal Myotonic Myopathy-A Pilot (1)H-MRS Study. (2026/04/01) ♡
• Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1. (2026/04/01) ♡
• Toward Trial Readiness in Congenital Myotonic Dystrophy: A Longitudinal Cohort Study of Predictors of Motor Function in Childhood. (2026/04/01) ♡
• Targeted long-read sequencing for high-resolution repeat profiling in myotonic dystrophy type 1. (2026/04/01) ♡
• Muscleblind-like proteins dimerize by forming disulfide bonds to regulate alternative splicing and pathogenic RNA foci formation. (2026/03/26) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Undiagnosed Maternal Myotonic Dystrophy Type 1 Revealed by Congenital Myotonic Dystrophy in the Neonate. (2026/03/26) ♡
• Test-Retest Reliability of Remote Assessments in Patients With Myotonic Dystrophy Type 1. (2026/03/24) ♡
• Evaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey study. (2026/03/20) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Progressive cardiac phenotypes and reduced reversibility from long-term CUGexp RNA expression in a DM1 mouse model. (2026/03/19) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. MBNL proteins in health, disease, and therapeutic applications. (2026/03/19) ♡
• Hidden diagnoses among patients with double seronegative myasthenia gravis. (2026/03/19) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review. (2026/03/17) ♡
• Stepwise transcription stalling by the anti-cancer drug Actinomycin D and insights into short tandem repeat transcription inhibition. (2026/03/15) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1). (2026/03/13) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1. (2026/03/13) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Role of Otolaryngology in Monitoring the Progression of Myotonic Dystrophy: A Case Report. (2026/03/05) ♡
• Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice. (2026/03/02) ♡
• MRCKα Is a Suppressor of GEF-H1/RhoA/MRTF Signaling in Tubular Cells. (2026/03/02) ♡

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