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Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity

  • Musculoskeletal
  • Published:
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Abstract

Objectives

Inherited myopathies are major causes of muscle atrophy and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal contractures. We aim to present a decision algorithm based on muscular whole body magnetic resonance imaging (mWB-MRI) as a unique tool to orientate the diagnosis of each inherited myopathy long before the genetically confirmed diagnosis.

Methods

This multicentre retrospective study enrolled 79 patients from referral centres in France, Brazil and Chile. The patients underwent 1.5-T or 3-T mWB-MRI. The protocol comprised STIR and T1 sequences in axial and coronal planes, from head to toe. All images were analyzed manually by multiple raters. Fatty muscle replacement was evaluated on mWB-MRI using both the Mercuri scale and statistical comparison based on the percentage of affected muscle.

Results

Between February 2005 and December 2015, 76 patients with genetically confirmed inherited myopathy were included. They were affected by Pompe disease or harbored mutations in RYR1, Collagen VI, LMNA, SEPN1, LAMA2 and MYH7 genes. Each myopathy had a specific pattern of affected muscles recognizable on mWB-MRI. This allowed us to create a novel decision algorithm for patients with rigid spine syndrome by segregating these signs. This algorithm was validated by five external evaluators on a cohort of seven patients with a diagnostic accuracy of 94.3% compared with the genetic diagnosis.

Conclusion

We provide a novel decision algorithm based on muscle fat replacement graded on mWB-MRI that allows diagnosis and differentiation of inherited myopathies presenting with spinal rigidity.

Key Points

• Inherited myopathies are rare, diagnosis is challenging and genetic tests require specialized centres and often take years.

• Inherited myopathies are often characterized by spinal rigidity.

• Whole body magnetic resonance imaging is a unique tool to orientate the diagnosis of each inherited myopathy presenting with spinal rigidity.

• Each inherited myopathy in this study has a specific pattern of affected muscles that orientate diagnosis.

• A novel MRI-based algorithm, usable by every radiologist, can help the early diagnosis of these myopathies.

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Abbreviations

MAM:

Mean of percentages of affected muscle

mWB-MRI:

Muscular whole body magnetic resonance imaging

RSS:

Rigid spine syndrome

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Acknowledgements

We thank the patients and their families for their invaluable contributions. We also thank Nathaniel Bern for his help with statistics, Pr Dominique Berrebi, Dr Lea Chiche and Annaelle Chetrit, Dr Jessica Beaziz for their advice. We thank Dr Joseph Benzakoun, Dr Wagih Ben Hassen, Dr Jeffery Zhou, Dr Anh Minh and Dr Corentin Provost for their help with making up the validation group.

Funding

The authors state that this work has not received any funding.

Author information

Authors and Affiliations

  1. Assistance Publique des Hôpitaux de Paris (AP-HP), Service d’Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France

    Mickael Tordjman, Adrien Felter, Bruno Law-Ye, Dominique Mompoint & Robert-Yves Carlier

  2. Pôle Pédiatrie, Hôpital Raymond Poincaré, Garches, France - Centre de Référence Maladies Neuromusculaires GNMH, FILNEMUS, Garches, France

    Ivana Dabaj & Susana Quijano-Roy

  3. Département de Neurologie, Unité Clinique de Pathologie Neuromusculaire, Institut de Myologie, CHU La Pitié Salpêtrière, APHP, Paris, France

    Pascal Laforet

  4. Service de Génétique, Hôpital Raymond Poincaré, APHP, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France

    Ana Ferreiro

  5. Unité de Recherche Clinique, Hôpital Saint-Antoine, APHP, Paris, Hôpitaux Universitaires Est Parisien, Garches, France

    Moustafa Biyoukar

  6. Department of Neurology, Medical School of the University of São Paulo, São Paulo, Brazil

    Edmar Zanoteli

  7. Neuromuscular and Motor Disorders Program Clinica Las Condes, Pediatric Neurology, Santiago, Chile

    Claudia Castiglioni

  8. Département de Biochimie, Toxicologie, Pharmacologie et Génétique Moléculaire, CHU Grenoble Alpes, Grenoble, France

    John Rendu

  9. Département de Génétique Médicale, AP-HM, Hôpital Timone Enfants, Marseille, France

    Christophe Beroud

  10. Institut Necker Enfants Malades, Inserm U1151, Paris, France

    Alexandre Chamouni

  11. UF de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Centre de Génétique Moléculaire et Chromosomique, CHU La Pitié Salpêtrière, APHP, Paris, France

    Pascale Richard

Authors
  1. Mickael Tordjman
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  2. Ivana Dabaj
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  3. Pascal Laforet
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  4. Adrien Felter
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  6. Moustafa Biyoukar
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  7. Bruno Law-Ye
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  8. Edmar Zanoteli
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  9. Claudia Castiglioni
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  10. John Rendu
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  11. Christophe Beroud
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  12. Alexandre Chamouni
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  13. Pascale Richard
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  14. Dominique Mompoint
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  15. Susana Quijano-Roy
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  16. Robert-Yves Carlier
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Corresponding author

Correspondence to Mickael Tordjman.

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Guarantor

The scientific guarantor of this publication is Mickael Tordjman

Conflict of interest

The authors of this manuscript declare no relationships with any companies whose products or services may be related to the subject matter of the article.

Statistics and biometry

Nathaniel Bern kindly provided statistical advice for this manuscript. One of the authors has significant statistical expertise: Moustafa Biyoukar.

Informed consent

Written informed consent was obtained from all subjects (patients) in this study.

Ethical approval

Institutional review board approval was obtained.

Methodology

• retrospective

• diagnostic or prognostic study/observational

• multicentre study

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Tordjman, M., Dabaj, I., Laforet, P. et al. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. Eur Radiol 28, 5293–5303 (2018). https://doi.org/10.1007/s00330-018-5472-5

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  • DOI: https://doi.org/10.1007/s00330-018-5472-5

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