Adrenal insufficiency in individuals with Duchenne muscular dystrophy treated with glucocorticoids: Insights from the past, current challenges, and future directions
Duchenne muscular dystrophy (DMD) is an X-linked recessive dystrophinopathy characterized by progressive loss of muscle strength, respiratory insufficiency, cardiac dysfunction, and premature death. Despite a rapidly evolving therapeutic landscape that now includes multiple disease modifying treatments including exon skipping medications, microdystrophin gene therapy, and givinostat, high dose glucocorticoids (GCs) initiated at a young age remain central to the standard of care for DMD. Individuals treated with GCs are at high risk of adrenal insufficiency, an iatrogenic and potentially life-threatening condition that can arise from adrenal suppression caused by prolonged exposure to supraphysiologic doses of GCs. The objective of this manuscript is to provide an up-to-date review of the best practices for the management of adrenal insufficiency in individuals with DMD treated with GCs. The approach described in this document also applies to individuals with related dystrophinopathies including Becker muscular dystrophy and female manifesting carriers treated with GCs, recognizing that GCs are not standard of care for these conditions and are prescribed on an individualized basis at some centers to severely affected individuals. Key themes discussed include best practices for individual and caregiver education about adrenal suppression, creation and implementation of stress steroid plans, safe transition between GC treatment regimens, and discontinuation of GC therapy.
Authors
- Anne Marie Sbrocchi (ORCID: https://orcid.org/0009-0005-3682-8293)
- Alberto Ferlin (ORCID: https://orcid.org/0000-0001-5817-8141)
- Luisa De Sanctis (ORCID: https://orcid.org/0000-0003-2113-6196)
- Kim Phung (ORCID: https://orcid.org/0000-0003-2546-2853)
- Janet L. Crane (ORCID: https://orcid.org/0000-0001-7713-0936)
- Nat Nasomyont (ORCID: https://orcid.org/0000-0001-8996-8760)
- Chiara Panicucci (ORCID: https://orcid.org/0000-0003-4571-611X)
- Natascia Di Iorgi (ORCID: https://orcid.org/0000-0002-4492-4585)
- Francesca Cumbo (ORCID: https://orcid.org/0000-0002-0440-9765)
- Meilan M. Rutter (ORCID: https://orcid.org/0000-0003-4142-9527)
- Shipra Bansal (ORCID: https://orcid.org/0000-0002-0133-784X)
- Kathryn A. Selby (ORCID: https://orcid.org/0000-0001-9239-1704)
- Eugenio Maria Mercuri (ORCID: https://orcid.org/0000-0002-9851-5365)
- Nora E. Renthal (ORCID: https://orcid.org/0000-0002-8186-4462)
- Stefan Nicolau (ORCID: https://orcid.org/0000-0001-5631-0559)
- Sabrina Corbetta (ORCID: https://orcid.org/0000-0001-8140-3175)
- Danilo Fintini (ORCID: https://orcid.org/0000-0002-0103-7951)
- Gianluca Tornese (ORCID: https://orcid.org/0000-0002-4395-3915)
- Luca Bello (ORCID: https://orcid.org/0000-0002-3075-6525)
- Aravindhan Veerapandiyan (ORCID: https://orcid.org/0000-0002-3065-3956)
- David R. Weber (ORCID: https://orcid.org/0000-0001-6895-2372)
- Leanne Marie Ward (ORCID: https://orcid.org/0000-0003-1557-9185)
- Robert W. Benjamin
- Nadia Merchant (ORCID: https://orcid.org/0000-0001-8775-6481)
- Hugh J. McMillan (ORCID: https://orcid.org/0000-0001-8927-2018)
- Tommaso Aversa (ORCID: https://orcid.org/0000-0002-1754-6822)
- Mélissa Fiscaletti (ORCID: https://orcid.org/0000-0003-2092-0691)
- Maria-Elena Lautatzis
- Julia Sorbara (ORCID: https://orcid.org/0000-0001-6324-6727)
- Carol Lam
- Mena Scavina
- Susan Apkon (ORCID: https://orcid.org/0009-0008-9873-7970)
- Kathi Kinnett
- Laura McAdam
- Alexandra Ahmet
- Jaclyn Tamaroff
- Paula R. Clemens (ORCID: https://orcid.org/0000-0002-0652-6703)
- Sze Choong Wong
- Cuixia Tian
- Claire Wood
- Rachel Schrader
Institutions
- Università Cattolica del Sacro Cuore (IT)
- University of Messina (IT)
- Cincinnati Children's Hospital Medical Center (US)
- Boston Children's Hospital (US)
- Nationwide Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- Harvard University (US)
- University of Padua (IT)
- University of British Columbia (CA)
- University of Trieste (IT)
- Johns Hopkins University (US)
- Thomas Jefferson University (US)
- University of Ottawa (CA)
- University of Pittsburgh (US)
- University of Toronto (CA)
- University of Milan (IT)
- Children's Hospital of Eastern Ontario (CA)
- Johns Hopkins Medicine (US)
- IRCCS Materno Infantile Burlo Garofolo (IT)
- Royal Hospital for Children (GB)
- Istituto Giannina Gaslini (IT)
- McGill University Health Centre (CA)
- Agostino Gemelli University Polyclinic (IT)
- Children's Hospital Colorado (US)
- Parent Project Muscular Dystrophy (US)
- Nemours Children's Health System (US)
- Royal Hospital for Sick Children (GB)
- Bambino Gesù Children's Hospital (IT)
- Duke Medical Center (US)
- IRCCS Istituto Auxologico Italiano (IT)
- Ospedale Regina Margherita (IT)
- Great North Children's Hospital (GB)
- Azienda Ospedale - Università Padova (IT)
- University of the Sacred Heart (JP)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Southwestern Medical Center (US)
- University of Manitoba (CA)
- The Ohio State University (US)
- University of Turin (IT)
- Université de Montréal (CA)
- University of Glasgow (GB)
- University of Pennsylvania (US)
- University of Arkansas for Medical Sciences (US)
- University of Genoa (IT)
- Newcastle University (GB)
- The University of Texas Southwestern Medical Center (US)
- Vanderbilt University Medical Center (US)
- University of Cincinnati Medical Center (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- Journal of Neuromuscular Diseases
- Published
- 2026-09-22
- DOI
- https://doi.org/10.1177/22143602261485046
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00