Evidence map›Paper›PMID 26566479›Full record

ReviewWorld journal of clinical pediatrics2015

Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.

Genevieve Ho, Michael Cardamone, Michelle Farrar

Open access · bronzeAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in World journal of clinical pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
4.5field-weighted citation impact, top 4% of its field
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

39 citing papers in PubMed, 111 citations in OpenAlex.

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  19. Cellular Senescence and Aging in Myotonic Dystrophy.International journal of molecular sciences · 2022
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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

3 authors at 1 institution in 2 countries.

Genevieve HoGenevieve Ho, Michael Cardamone, Michelle Farrar, Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, the University of New South Wales, Sydney NSW 2031, Australia.
Michael CardamoneGenevieve Ho, Michael Cardamone, Michelle Farrar, Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, the University of New South Wales, Sydney NSW 2031, Australia.
Michelle FarrarGenevieve Ho, Michael Cardamone, Michelle Farrar, Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, the University of New South Wales, Sydney NSW 2031, Australia.
Sydney Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myotonic dystrophy type 1 (DM1) is multisystem disease arising from mutant CTG expansion in the non-translating region of the dystrophia myotonica protein kinase gene. While DM1 is the most common adult muscular dystrophy, with a worldwide prevalence of one in eight thousand, age of onset varies from before birth to adulthood. There is a broad spectrum of clinical severity, ranging from mild to severe, which correlates with number of DNA repeats. Importantly, the early clinical manifestations and management in congenital and childhood DM1 differ from classic adult DM1. In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognised yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counselling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation, as is assisting with family planning and undertaking cascade testing to instigate health surveillance in affected family members. This review incorporates discussion of the clinical manifestations and management of congenital and childhood DM1, with a particular focus on hypersomnolence and sleep disorders. In addition, the molecular genetics, mechanisms of disease pathogenesis and development of novel treatment strategies in DM1 will be summarised.

Indexed as

Childhood myotonic dystrophyClinical manifestationsCongenital myotonic dystrophyManagementMyotonic dystrophy type 1Natural history

Identifiers

PMID26566479
PMCPMC4637811
OpenAlexW2405012717

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.