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Neuropediatrics 2023; 54(06): 426-429
DOI: 10.1055/s-0043-1768989
Short Communication

Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

Chiara Panicucci
1   Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Sara Casalini
1   Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Monica Traverso
2   Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Noemi Brolatti
2   Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Serena Baratto
1   Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Lizzia Raffaghello
1   Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Marina Pedemonte
2   Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Luca Doglio
3   Physical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Maria Derchi
4   Cardiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Giorgio Tasca
5   Neurology Unit, IRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
Beatrice M. Damasio
6   Radiology Department, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Chiara Fiorillo
2   Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
7   Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genova, Genova, Italy
,
Claudio Bruno
1   Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy
7   Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genova, Genova, Italy
› Author Affiliations Funding None.
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Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the EMD gene encoding emerin, and the autosomal EDMD2, due to mutations in the LMNA gene encoding lamin A/C. A clear definition of the magnetic resonance imaging (MRI) pattern in the two forms, and especially in the rarer EDMD1, is still lacking, although a preferential involvement of the medial head of the gastrocnemius has been suggested in EDMD2. We report a 13-year-old boy with mild limb girdle muscle weakness, elbow and ankle contractures, with absence of emerin at muscle biopsy, carrying a hemizygous frameshift mutation on the EMD gene (c.153dupC/p.Ser52Glufs*9) of maternal inheritance. Minor cardiac rhythm abnormalities were detected at 24-hour Holter electrocardiogram and required β-blocker therapy. MRI scan of the thighs showed a mild diffuse involvement, while tibialis anterior, extensor digitorum longus, peroneus longus, and medial gastrocnemius were the most affected muscles in the leg. We also provide a review of the muscular MRI data in EDMD patients and highlight the relative heterogeneity of the MRI patterns found in EDMDs, suggesting that muscle MRI should be studied in larger EDMD cohorts to better define disease patterns and to cover the wide disease spectrum.

Keywords

Emery-Dreifuss muscular dystrophy - muscle MRI - weakness - emerin - contractures

Authors' Contributions

C.P.: acquisition of data, conception, and drafting of the manuscript; S.C., N.B., M.P., L.D., M.D., and B.M.D.: acquisition of data; M.T., S.B., and L.R.: experimental procedures; G.T.: discussion and revision of the manuscript; C.F.: discussion and revision the manuscript; C.B.: conception, drafting, and revision of the manuscript. All authors read, revised, and approved the final manuscript.


Supplementary Material



Publication History

Received: 19 December 2022

Accepted: 18 April 2023

Article published online:
31 May 2023

© 2023. Thieme. All rights reserved.

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