Evidence map›Paper›PMID 42047848›Full record

ArticleJournal of neurology2026

X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

A Elkoush, R Giossi, G Gadaleta, A Maccabeo, F Pinna, A Palladino, M Giannotta, D Leone, G Colacicco, B Risi and 20 more

Abstract readMulticenter Study
PubMed Publisher
In one paragraph

Article in Journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

30 authors.

A Elkoush *Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
R Giossi *Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
G GadaletaNeuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.
A MaccabeoALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
F PinnaALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
A PalladinoCardiomyology and Medical Genetics UOSD, Università Degli Studi Della Campania Luigi Vanvitelli, Naples, Campania, Italy.
M GiannottaNeuromuscular Pediatric Unit, UOC Di Neuropsichiatria Dell'età Pediatrica, IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy.
D LeonePediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy.
G ColaciccoThe NEMO Center, Neurorehabilitation Unit, University of Milan, Milan, Italy.
B RisiNEMO-Brescia Clinical Center for Neuromuscular Diseases; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
S GibertiniNeuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
L VerrielloNeurology Unit, S. Maria Della Misericordia University Hospital, Udine, Italy.
C PanicucciCenter of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
C BrunoCenter of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
M PanePediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario A. Gemelli IRCSS, Università Cattolica del Sacro Cuore, Rome, Italy.
S MessinaDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
C RodolicoDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
A PiniNeuromuscular Pediatric Unit, UOC Di Neuropsichiatria Dell'età Pediatrica, IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy.
G VattemiDepartment of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
M FilostoNEMO-Brescia Clinical Center for Neuromuscular Diseases; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
A PadovaniUnit of Neurology, ASST Spedali Civili; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
V A SansoneThe NEMO Center, Neurorehabilitation Unit, University of Milan, Milan, Italy.
M C CarellaCardiology Unit, Interdisciplinary Department of Medicine, University of Bari Aldo Moro, University Hospital Consortium, Polyclinic of Bari, Bari, Italy.
C ForleoCardiology Unit, Interdisciplinary Department of Medicine, University of Bari Aldo Moro, University Hospital Consortium, Polyclinic of Bari, Bari, Italy.
P ToninDepartment of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
C FiorilloDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health -DINOGMI, University of Genova, Genova, Italy.
L PolitanoCardiomyology and Medical Genetics UOSD, Università Degli Studi Della Campania Luigi Vanvitelli, Naples, Campania, Italy.
N CarboniNeurology Department and Stroke Unit, Hospital San Francesco of Nuoro, Nuoro, Italy.
T MonginiNeuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.
L MaggiNeuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. lorenzo.maggi@istituto-besta.it.ORCID http://orcid.org/0000-0002-0932-5173

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesX-linked Emery-Dreifuss muscular dystrophy (EDMD1) is a rare early-onset myopathy, affecting 1/400.000 individuals, characterized by humeroperoneal weakness, contractures and cardiac involvement. EDMD1 natural history has been poorly investigated, with most of the studies including only a few patients. The aim of the study was to investigate the clinical and molecular features in a large Italian cohort of EDMD1.

methodsWe retrospectively collected data of 38 genetically defined EDMD1 males (16 members of 6 families, and 22 sporadic cases) and 10 female carriers, from 14 referral neuromuscular centers in Italy. Patients were included only if showing detectable muscle weakness or contractures at the neurological examination.

resultsMean age at onset of patients was 12.0 ± 3.4 years (range 2-61). Among them 32 (84.2%) presented with muscle weakness or contractures and 6 (15.8%) with cardiac symptoms. Twenty-nine (76.3%) patients had heart involvement, with a mean age at onset of 24.2 ± 13.1 years. Age at disease onset was significantly different (p = 0.0011) between patients with cardiac onset and those with muscular onset. Moreover, patients with muscular onset had worse (p = 0.0163) motor performance at last follow-up (LFU), according to Gardner-Medwin-Walton Scale (GMWS). Loss of walking ability was observed in 3/38 (7.9%) patients, after a disease duration of 35, 49 and 35 years, respectively. Most of the remaining patients showed a mild disease severity, scoring 1-3 at the GMWS at LFU. Ten EMD mutations were novel and unreported in the literature.

conclusionsOur data provide further insight in the field of EDMD1 and suggest that the disease natural history is dominated by heart involvement, while skeletal muscle weakness slowly progresses over the years.

Indexed as

Muscular Dystrophy, Emery-DreifussAdolescentAdultAge of OnsetChildChild, PreschoolCohort StudiesFemaleHumansItalyMaleMiddle AgedRetrospective StudiesYoung AdultEDMD1Emery–DreifussGardner-Medwin–Walton ScaleNatural historyObservational

Identifiers

PMID42047848

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