ArticleNeurology2021
Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program.
Article in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06747884 (Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension), which is not on this map. Cited by 102 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
Who cites it
102 citing papers in PubMed, 2 syntheses or guidelines pooled it, 154 citations in OpenAlex.
- Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy.The Cochrane database of systematic reviews · 2024Pooled it
- Walking test outcomes in adults with genetic neuromuscular diseases: a systematic literature review of their measurement properties.European journal of physical and rehabilitation medicine · 2024Pooled it
- Comparing Outcomes of a Discrete Choice Experiment and Case 2 Best-Worst Scaling: An Application to Neuromuscular Disease Treatment.The patient · 2023Trial
- Myotonia: Recognition, Evaluation, and Differential Diagnosis.Muscle & nerve · 2026Review
- Treatment updates in myotonic disorders.Journal of neurology · 2026Review
- DMPK 3' untranslated repeat expansions in unexplained sudden cardiac death in the young.European heart journal · 2026Article
- Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies.International journal of molecular sciences · 2026Review
- Atypical Phenotype of Myotonic Dystrophy Type 1 with Variant Repeats at the Age of Diagnosis.Biology · 2026Article
- Bottlebrush polymer conjugates for enhanced antisense oligonucleotide therapy in myotonic dystrophy type 1.Nucleic acids research · 2026Article
- Exploring barriers to clinical trial readiness among the myotonic dystrophy community: a mixed-methods study.Orphanet journal of rare diseases · 2026Article
- Current biomarker development in myotonic dystrophies.Journal of neurology · 2026Review
- Article
- Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials.Journal of neuromuscular diseases · 2026Review
- Targeted long-read sequencing for high-resolution repeat profiling in myotonic dystrophy type 1.Experimental & molecular medicine · 2026Article
- Test-Retest Reliability of Remote Assessments in Patients With Myotonic Dystrophy Type 1.Neurology · 2026Article
- Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1.Journal of neuromuscular diseases · 2026Review
- Elevated Risk of Endometrial Cancer and Precursor Lesions in Patients With Myotonic Dystrophy: A Retrospective Study at a Single Institution in Japan.The journal of obstetrics and gynaecology research · 2026Article
- Aberrant Splicing ofCirculation. Genomic and precision medicine · 2026Article
- In Vivo Evaluation of CTG Repeat-Affected Muscle Pathology in a Myotonic Dystrophy Model Mouse Using Electromyography and Fluorescence In Situ Hybridization.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Identification of enzymatically modified isoquercitrin as a therapeutic lead for myotonic dystrophy type 1.NAR molecular medicine · 2026Article
42 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo determine whether the genetic prevalence of the CTG expansion in the
methodsThis study used a cross-sectional cohort of deidentified dried blood spots from the newborn screening program in the state of New York, taken from consecutive births from 2013 to 2014. Blood spots were screened for the CTG repeat expansion in the
resultsOf 50,382 consecutive births, there were 24 with a CTG repeat expansion ≥50, consistent with a diagnosis of DM1. This represents a significantly higher DM1 prevalence of 4.76 per 10,000 births (95% confidence interval 2.86-6.67) or 1 in every 2,100 births. There were an additional 96 samples (19.1 per 10,000 or 1 in 525 births) with a CTG expansion in the
conclusionThe prevalence of individuals with CTG repeat expansions in
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.