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Diagnosis and management of Becker muscular dystrophy: the French guidelines

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Abstract

Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelines have been published for management of BMD. Many clinicians are inexperienced in managing the complications of this disease. In France, a committee of experts from a wide range of disciplines met in 2019 to establish recommendations, with the goal of improving care of patients with BMD. Here, we present the tools to provide diagnosis of BMD as quickly as possible and for differential diagnoses. Then, we describe the multidisciplinary approach essential for optimum management of BMD. We give recommendations for the initial assessment and follow-up of the neurological, respiratory, cardiac, and orthopedic consequences of males who present with BMD. Finally, we describe the optimal therapeutic management of these complications. We also provide guidance on cardiac management for female carriers.

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Acknowledgements

The authors would like to thank all the following for their helpful in this work: Pierre AMBROSI: Service de cardiologie. APHM, Marseille, France. Ralph BOULLE: Groupe d’intérêt BMD, AFM Téléthon, France. Claude CANCES: Service de Neuropédiatrie, CHU Toulouse, France. Mireille COSSEE: Biologie Moléculaire, CHU Montpellier, France. Claire DELLECI: Service de Médecine Physique et Rééducation, CHU Bordeaux, France. Stéphane DEBELLEIX: Service de pédiatrie, CHU Bordeaux, France. Denis DUBOC. Service de Cardiologie, AP-HP, France. Leonard FEASSON: Service de Médecine Physique et Rééducation, CHU Saint Etienne, France. Karima GHORAB: Service de Neurologie, CHU Limoges, France. Cyril GOIZET: Service de Génétique, CHU Bordeaux, France. Jesus GONZALES: Service de Pneumologie, APHP, France. Raul JUNTAS-MORALES. Service de Neurologie, CHU Montpellier, France. Xavier IRIART: Service de Cardiologie, CHU Bordeaux, France. Claudio LLONTOP: Service de Pneumologie et Réanimation, APHP, France. Pierre MAILLET: Draguignan, France. Pascale MARCORELLES: Service d’anatomopathologie, CHU Brest, France. Sandra MERCIER: Service de Génétique, CHU Nantes, France. Sylviane PEUDENIER: Service de neuropédiatrie, CHU Brest, France. Patricia REANT: Service de Cardiologie, CHU Bordeaux, France. Claudio RABEC: Service de pneumologie, CHU Dijon, France. François RIVIER: Service de Neuropédiatrie, CHU de Montpellier, France. Jon Andoni URTIZBEREA: Servie de Médecine physique et réadaptation, AP-HP, France. Ulrike WALTHER-LOUVIER: Service de neuropédiatrie, CHU Montpellier, France. Sandrine SEGOVIA-KUENY: AFM Téléthon, France.

Guilhem Sole, Yann Péréon and Armelle Magot had the idea for the article, all the authors performed the literature search and data analysis, Armelle Magot drafted the article. All the authors critically revised the work.

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Authors and Affiliations

  1. Centre de Référence des Maladies Neuromusculaires AOC, Laboratoire d’Explorations Fonctionnelles, FILNEMUS, Hôtel-Dieu, CHU de Nantes, Nantes, France

    Armelle Magot

  2. Centre de Référence des Maladies Neuromusculaires Paris Est, AP-HP, Hopital Pitie salpêtrière, Institut de myologie, Cardiovascular Research Center, Inserm Unit 970, Paris, France

    Karim Wahbi

  3. Service de Médecine Génomique des Maladies de Système et d’Organe, APHP, Université de Paris, Hopital Cochin, Paris, France

    France Leturcq

  4. Service de Pneumologie, L’institut du thorax, Hôpital G et R Laennec, CHU de Nantes, Nantes, France

    Sandrine Jaffre

  5. Centre de Référence des Maladies Neuromusculaires AOC, Laboratoire d’Explorations Fonctionnelles, FILNEMUS, Euro-NMD, Hôtel-Dieu, CHU de Nantes, Nantes, France

    Yann Péréon

  6. Centre de Référence des Maladies Neuromusculaires AOC, FILNEMUS, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France

    Guilhem Sole

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  1. Armelle Magot
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Consortia

The French BMD working group

  • Pierre Ambrosi
  • , Ralph Boulle
  • , Claude Cances
  • , Mireille Cossee
  • , Stéphane Debelleix
  • , Claire Delleci
  • , Denis Duboc
  • , Leonard Feasson
  • , Karima Ghorab
  • , Cyril Goizet
  • , Jesus Gonzales
  • , Xavier Iriart
  • , Raul Juntas-Morales
  • , Claudio Llontop
  • , Pierre Maillet
  • , Pascale Marcorelles
  • , Sandra Mercier
  • , Sylviane Peudenier
  • , Claudio Rabec
  • , Patricia Reant
  • , François Rivier
  • , Sandrine Segovia-Kueny
  • , Jon Andoni Urtizberea
  •  & Ulrike Walther-Louvier

Corresponding author

Correspondence to Armelle Magot.

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Conflicts of interest

The authors declare that they have no conflict of interest.

Ethical standard

This study is a review of previously published data and does not involve the collection of new data from human participants or animals. Therefore, ethical approval and informed consent were not required for this study. No personally identifiable information is presented in this review. All data sources and references used in this review are appropriately cited in the reference section to ensure transparency and give proper credit to the original authors.

Additional information

The members of The French BMD working group are listed in acknowledgements.

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Magot, A., Wahbi, K., Leturcq, F. et al. Diagnosis and management of Becker muscular dystrophy: the French guidelines. J Neurol 270, 4763–4781 (2023). https://doi.org/10.1007/s00415-023-11837-5

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