In 2010, Bushby et al1,2 published the first-ever international comprehensive guidance on the diagnosis and management of patients with Duchenne muscular dystrophy (DMD) for practitioners. These recommendations were instrumental in raising awareness about the scope of the clinical care issues affecting boys and men with DMD and in initiating discussion around the world about the need to improve the quality and standardization of care. Almost a decade later, again in collaboration with the US Centers for Disease Control and Prevention, these documents have been updated to reflect the current approaches to the diagnosis and management of DMD, with key principles divided into the following 3 main articles3,5: part I: diagnosis, neuromuscular care, rehabilitation, and endocrine (growth, puberty, obesity, and adrenal suppression) and nutritional management; part II: respiratory, cardiac, osteoporosis, and orthopedic management; and part III: primary, psychosocial, and emergency care and transitions of care across the lifespan.

For a multidisciplinary overview of assessments and interventions covering all topics and organized by stage of disease, see Fig 1, which is reproduced from the 2018 DMD Care Considerations published in The Lancet Neurology.4 Additionally, each article in this supplement contains a figure or table reproduced from the DMD Care Considerations, with care guidance for each specialty. The purpose of the articles in this supplement is to give readers a window into the detailed thought processes behind these care considerations, including the complexities involved in decision-making, the medical controversies, and the future directions for research, all of which vary by subspecialty.

FIGURE 1

Comprehensive care of individuals with DMD. Care for patients with DMD is provided by a multidisciplinary team of health care professionals; the neuromuscular specialist serves as the lead clinician. The figure includes an overview of recommended multidisciplinary care for patients with DMD. aEchocardiogram for patients ≤6 years of age. bCardiac MRI for patients >6 years of age. ACE, angiotensin-converting enzyme. This figure is reproduced with permission from Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part I: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):252.

FIGURE 1

Comprehensive care of individuals with DMD. Care for patients with DMD is provided by a multidisciplinary team of health care professionals; the neuromuscular specialist serves as the lead clinician. The figure includes an overview of recommended multidisciplinary care for patients with DMD. aEchocardiogram for patients ≤6 years of age. bCardiac MRI for patients >6 years of age. ACE, angiotensin-converting enzyme. This figure is reproduced with permission from Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part I: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):252.

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The detailed companion articles in this special issue of Pediatrics are based on the guidance found in the 2018 Care Considerations updates. The authors of those articles used the Research and Development Corporation–University of California, Los Angeles Appropriateness Method, in which a group of experts rate clinical scenarios to determine which assessments and interventions they deem to be both appropriate and necessary. Exceptions to this approach involved the transition and primary and emergency care areas in which the Research and Development Corporation–University of California, Los Angeles Appropriateness Method was not applicable,3 and consensus was instead reached through dialogue among the relevant experts. The ensuing special issue of Pediatrics includes articles proposing strategies to evaluate the following: the knowledge uptake and implementation of the 2018 updated guidance for clinicians and the care issues spanning diagnosis, current and emerging therapies used to treat the dystrophinopathy, management of drug side effects, and cardiac, respiratory, rehabilitative, endocrine, osteoporosis, nutritional, emergency, psychosocial, orthopedic, and transitional care. The following paragraphs provide a summary of the key issues highlighted in these companion articles.

The past decade has seen tremendous advances in the diagnosis and treatment of DMD, a life-limiting, X-linked recessive disorder arising from mutations in the dystrophin gene. These advances have led to an improved outlook for those living with the condition, translating into heightened optimism within the DMD community. Glucocorticoids are now widely accepted as an accessible and pivotal determinant of prolonged ambulation in patients with DMD, and life expectancy has been extended, on average, into the third decade when paired with comprehensive and anticipatory multidisciplinary care. At the same time, glucocorticoids do not cure the disease, nor do they hold a wide therapeutic window; potentially aggressive, multi-organ toxicities limit their use in children of young ages, attenuate the doses that can be prescribed, and, in some patients, shorten the duration of therapy.

Over the past decade, a number of other therapies that are used to target the pathobiology of the condition have emerged, many of which have rapidly progressed to being tested in clinical trials. These include gene modification strategies (gene replacement and editing), nonsense read-through and exon-skipping drugs, and utrophin modulation. Two gene-targeted strategies have recently received health regulatory approval after demonstrating efficacy in clinical trials: Eteplirsen (“exon 51 skipping”) in the United States and Translarna (ataluren; nonsense read-through) in the European Union. Other therapies currently under investigation are pursuing regeneration, antioxidant, antifibrosis, and anti-inflammatory pathways in muscle development. These approaches broaden the discussion around the importance of early intervention, including timely disease recognition and newborn screening. These important developments in disease knowledge and translation reflect the combined and collaborative efforts of scientists, policy makers, patient advocates, and families alike.

With currently available gene-targeted therapies demonstrating disease modification at best in the minority of patients harboring the targeted mutations, glucocorticoid therapy combined with anticipatory multidisciplinary care remain the cornerstone of management for most patients. When prescribing glucocorticoids, practitioners need to be aware of the delicate balance between treatment efficacy and the mitigation of potentially serious side effects so as to avoid premature interruption of therapy when the balance is tipped toward overriding toxicities. In fact, one of the most important advances in the past decade is greater awareness of the complications of glucocorticoid therapy in patients with DMD, a setting in which the magnitude of glucocorticoid exposure is virtually unprecedented both in terms of dose and duration of treatment. Future approaches to DMD therapy may well include some combination of emerging therapies plus glucocorticoids, with the specific therapeutic plan tailored to the pharmacogenetic profile of each individual patient.

The creators of the 2010 version of the Centers for Disease Control and Prevention Care Considerations advocated for a multidisciplinary approach to managing patients with DMD, and this approach has proven to be valid, as evidenced by the contribution of contemporary respiratory, cardiac, endocrine, nutritional, orthopedic, and rehabilitation management to improved patient survival and quality of life. Themes that characterize the current collection of specialty articles include the need for a more anticipatory approach to diagnosis and therapeutic intervention across specialties; the need to define and disseminate best practices for multidisciplinary care, including primary care and emergency medical management; and the need to couple prolonged survival with better patient quality of life, prompting a greater emphasis on psychosocial issues and transitions of care across the lifespan. It is our goal that this suite of companion articles to the 2018 Care Considerations will be useful to clinicians, that it will raise the standard of care around the world, and that ultimately it will improve the quality of life for those living with this condition.

     
  • DMD

    Duchenne muscular dystrophy

The guidelines or recommendations in this article are not American Academy of Pediatrics policy and publication herein does not imply endorsement.

Drs Ward and Birnkrant participated in multiple Duchenne Muscular Dystrophy Care Considerations Rehabilitation Management Working Groups, as convened by the Centers for Disease Control and Prevention and served as coeditors of the Specialty Care for the Patient with Duchenne Muscular Dystrophy supplement, drafted the initial manuscript for this introduction, and reviewed and revised the manuscript; and all authors approved the final manuscript as submitted.

FUNDING: Supported in part by the Cooperative Agreement, NU38OT000167, and funded by the Centers for Disease Control and Prevention.

1
Bushby
K
,
Finkel
R
,
Birnkrant
DJ
, et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.
Lancet Neurol
.
2010
;
9
(
1
):
77
93
[PubMed]
2
Bushby
K
,
Finkel
R
,
Birnkrant
DJ
, et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care [published correction appears in Lancet Neurol. 2010;9(3):237].
Lancet Neurol
.
2010
;
9
(
2
):
177
189
[PubMed]
3
Birnkrant
DJ
,
Bushby
K
,
Bann
CM
, et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.
Lancet Neurol
.
2018
;
17
(
4
):
347
361
[PubMed]
4
Birnkrant
DJ
,
Bushby
K
,
Bann
CM
, et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management [published correction appears in Lancet Neurol. 2018;17(6):495].
Lancet Neurol
.
2018
;
17
(
3
):
251
267
[PubMed]
5
Birnkrant
DJ
,
Bushby
K
,
Bann
CM
, et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan.
Lancet Neurol
.
2018
;
17
(
5
):
445
455
[PubMed]

Competing Interests

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.