Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy

ABSTRACT Introduction We sought to define the whole‐body MRI (WB‐MRI) fingerprint of muscle involvement in pediatric LMNA‐related dystrophy (LMNA‐RD) and to compare it with SEPN1‐related myopathy (SEPN1‐RM). Methods Signal abnormality and atrophy in 109 muscles were scored by semiquantitative scales...

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Published inMuscle & nerve Vol. 54; no. 2; pp. 192 - 202
Main Authors Gómez-Andrés, David, Dabaj, Ivana, Mompoint, Dominique, Hankiewicz, Karolina, Azzi, Viviane, Ioos, Christine, Romero, Norma B., Ben Yaou, Rabah, Bergounioux, Jean, Bonne, Giséle, Richard, Pascale, Estournet, Brigitte, Yves-Carlier, Robert, Quijano-Roy, Susana
Format Journal Article
LanguageEnglish
Published United States Blackwell Publishing Ltd 01.08.2016
Wiley Subscription Services, Inc
Subjects
Adolescent
Child
Child, Preschool
Female
Humans
Lamin Type A - genetics
laminopathy
LMNA
Magnetic Resonance Imaging - methods
Male
Muscle Proteins - genetics
Muscular Diseases - diagnostic imaging
Muscular Diseases - genetics
NMR
Nuclear magnetic resonance
pattern recognition
Pediatrics
Retrospective Studies
Selenoproteins - genetics
SEPN1
Shoulder
Whole Body Imaging - methods
whole-body MRI
SEPN1
whole-body MRI
LMNA
child
laminopathy
pattern recognition
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ISSN0148-639X
1097-4598
DOI10.1002/mus.25018

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Summary:ABSTRACT Introduction We sought to define the whole‐body MRI (WB‐MRI) fingerprint of muscle involvement in pediatric LMNA‐related dystrophy (LMNA‐RD) and to compare it with SEPN1‐related myopathy (SEPN1‐RM). Methods Signal abnormality and atrophy in 109 muscles were scored by semiquantitative scales in 8 children with LMNA‐RD and represented by heatmaps. These features were compared with those from 9 SEPN1‐RM patients by random forests. Results LMNA‐RD showed predominant signal abnormalities in erector spinae, serratus anterior, subscapularis, gluteus medius and minimus, vastii, adductor magnus and longus, semimembranosus, medial gastrocnemius, and soleus muscles. Psoas, sternocleidomastoid, gracilis, and sartorius muscles often had normal signal but showed atrophy. Cranial, flexor digitorum longus, and tibialis posterior muscles were spared. According to random forests, atrophied semimembranosus in SEPN1‐RM was the most relevant feature to distinguish these patients from LMNA‐RD. Conclusions A selective pattern in WB‐MRI for pediatric LMNA‐RD exists and can be differentiated from SEPN1‐RM by machine learning. Muscle Nerve 54: 192–202, 2016
Bibliography:Assistance Publique des Hôpitaux de Paris (APHP)
Instituto Madrileño de Salud
istex:296EDA37CA9B4E70E7A8BF809569376EE9BC5788
ArticleID:MUS25018
Institute Nationale de la Santé (INSERM)
COST - No. BM1304
Université de Versailles Saint Quentin-en-Yvelines (UVSQ)
ark:/67375/WNG-B64JFNRQ-L
The final 2 authors (R.Y.‐C. and S.Q.‐R.) authors contributed equally to this study.
Support was also provided by the Instituto Madrileño de Salud (to D.G.A.).
This study was supported by the Assistance Publique des Hôpitaux de Paris (APHP), Institute Nationale de la Santé (INSERM), Université de Versailles Saint Quentin‐en‐Yvelines (UVSQ), and COST (BM1304) (R.Y.C., S.Q.‐R., and D.G.A. are participants in the COST‐Action MYO‐MRI)
http://myo-mri.eu/
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ISSN:0148-639X
1097-4598
DOI:10.1002/mus.25018