Evidence map›Paper›PMID 36555146›Full record

ArticleInternational journal of molecular sciences2022

A Greek National Cross-Sectional Study on Myotonic Dystrophies.

Georgios K Papadimas, Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Evangelia Nitsa, Christalena Sofocleous, Evangelia Tsanou, Ioannis Sarmas, Stefania Kaninia and 9 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 46% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

19 authors at 4 institutions in 1 country.

Georgios K Papadimas1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.ORCID 0000-0003-0163-4091
Constantinos Papadopoulos1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Kyriaki KekouLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, "Ag. Sofia" Children's Hospital, 11527 Athens, Greece.ORCID 0000-0001-9491-5479
Chrisoula Kartanou1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Athina Kladi1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Evangelia NitsaPostgraduate Program in Biostatistics School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece.ORCID 0000-0002-1285-0462
Christalena SofocleousLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, "Ag. Sofia" Children's Hospital, 11527 Athens, Greece.ORCID 0000-0002-3205-4287
Evangelia Tsanou1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Ioannis SarmasDepartment of Neurology, University Hospital of Ioannina, University of Ioannina, 45500 Ioannina, Greece.
Stefania Kaninia1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.ORCID 0000-0002-6185-681X
Elisabeth ChroniDepartment of Neurology, School of Medicine, University of Patras, 26504 Patras, Greece.
Georgios Tsivgoulis2nd Department of Neurology, "Attikon" University Hospital, National and Kapodistrian University of Athens, 12462 Athens, Greece.
Vasilios Kimiskidis1st Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.ORCID 0000-0002-3335-3019
Marianthi ArnaoutoglouDepartment of Clinical Neurophysiology, AHEPA University Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Leonidas Stefanis1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Marios Panas1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Georgios Koutsis1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.ORCID 0000-0002-8980-8377
Georgia Karadima1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.ORCID 0000-0001-7003-5717
Joanne Traeger-SynodinosLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, "Ag. Sofia" Children's Hospital, 11527 Athens, Greece.ORCID 0000-0002-1860-5628
National and Kapodistrian University of Athens · GRAristotle University of Thessaloniki · GRUniversity of Ioannina · GRUniversity of Patras · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited myopathies with a high prevalence across different ethnic regions. Despite some differences, mainly due to the pattern of muscle involvement and the age of onset, both forms, DM1 and DM2, share many clinical and genetic similarities. In this study, we retrospectively analyzed the medical record files of 561 Greek patients, 434 with DM1 and 127 with DM2 diagnosed in two large academic centers between 1994-2020. The mean age at onset of symptoms was 26.2 ± 15.3 years in DM1 versus 44.4 ± 17.0 years in DM2 patients, while the delay of diagnosis was 10 and 7 years for DM1 and DM2 patients, respectively. Muscle weakness was the first symptom in both types, while myotonia was more frequent in DM1 patients. Multisystemic involvement was detected in the great majority of patients, with cataracts being one of the most common extramuscular manifestations, even in the early stages of disease expression. In conclusion, the present work, despite some limitations arising from the retrospective collection of data, is the first record of a large number of Greek patients with myotonic dystrophy and emphasizes the need for specialized neuromuscular centers that can provide genetic counseling and a multidisciplinary approach.

Indexed as

MyotoniaMyotonic DystrophyCross-Sectional StudiesGreeceHumansRetrospective Studiescataractmyotonic dystrophyproximal myotonic myopathySteinert’s disease

Identifiers

PMID36555146
PMCPMC9778724
OpenAlexW4311849777

What OpenQuestion holds

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Registered trials

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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.