ReviewOrphanet journal of rare diseases2025
The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1.
Review in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed.
- Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey.BMC neurology · 2026Article
- Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1.Journal of neuromuscular diseases · 2026Review
- Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
Although myotonic dystrophy type 1 (DM1) is named after its characteristic muscle symptoms, it is in fact a multisystem disorder that can affect many different organs. It is therefore not surprising that this disease can manifest with a myriad of symptoms, depending on the organs involved. The age of onset and severity of symptoms vary widely. Diagnostic delays of more than ten years are common and it's not unusual for an entire family to be diagnosed only after the birth of a child with a severe phenotype. Knowledge of the spectrum of possible symptoms in DM1 can aid clinicians to recognise this disorder, thereby preventing unnecessary diagnostic delay and facilitating early treatment of disease complications. Here, we present an overview of the potential symptoms of DM1 at different ages, with the aim of raising awareness among healthcare professionals about the recognition of this disabling disease.
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.