Evidence map›Paper›PMID 39373365›Full record

ArticleMolecular genetics & genomic medicine2024

Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland.

E G Hallgrímsdóttir, H Svansson, V F Stefánsdóttir, Ó Á Sveinsson, H Ólafsdóttir, E Briem, S Sveinbjörnsdóttir, J J Jónsson

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In one paragraph

Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

E G HallgrímsdóttirSchool of Medicine, European University Cyprus, Nicosia, Cyprus.
H SvanssonSchool of Medicine, European University Cyprus, Nicosia, Cyprus.
V F StefánsdóttirDepartment of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland.
Ó Á SveinssonDepartment of Neurology, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland.
H ÓlafsdóttirDepartment of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland.
E BriemDepartment of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland.ORCID https://orcid.org/0000-0001-7383-3570
S SveinbjörnsdóttirMSE Trust, Basildon University Hospital, Queen Mary University of Medicine and Dentistry, University of London, London, UK.
J J JónssonDepartment of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland.ORCID https://orcid.org/0000-0001-5084-8374

Funding

DM Society of Iceland
6 · The paper itself

Abstract

backgroundMyotonic Dystrophy type 1 (DM1) is an autosomal dominant disease with anticipation due to increased number of CTG repeats in the DMPK gene.

methodsThis retrospective, cohort study in Iceland assessed prevalence of DM1, molecular pathology, and patient ascertainment. Data was collected from all major hospitals in Iceland, Medical Director of Health, and independent clinics. Cohort criteria were diagnosis of DM1 on January 1, 2021, or time of death. Population-based Icelandic Genealogy Database of the Genetical Committee at the University of Iceland was used for genealogy.

resultsIn Iceland, 221 individuals, including 19 obligate carriers, had been diagnosed with DM1 of which 144 were alive giving a point prevalence of 39 per 100,000 (four times the world average of 9.3). Genealogy analysis identified 45 first-degree families. Age-adjusted prevalence ranged between 11 and 66 per 100,000. Average potential years of life lost were 20.5 per person. Where information was available, 63% of ascertainment was based on family history in cascade testing.

conclusionThe differences in age-adjusted prevalence suggest that the overall point prevalence is an underestimation due to underdiagnosis in younger age groups and lethality in oldest age group. Our data supports use of cascade testing to improve DM1 ascertainment.

Indexed as

Myotonic DystrophyAdolescentAdultAgedAged, 80 and overChildChild, PreschoolFemaleHumansIcelandInfantMaleMiddle AgedMyotonin-Protein KinasePedigreePrevalenceDMPK protein, humanMyotonin-Protein Kinaseascertainmentcascade screeningIcelandmyotonic dystrophyprevalence

Identifiers

PMID39373365
PMCPMC11457208

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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 OpenQuestion graph.