Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Abstract

Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. The new care considerations aim to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, and to consider the implications of emerging genetic and molecular therapies for DMD. The committee identified 11 topics to be included in the update, eight of which were addressed in the original care considerations. The three new topics are primary care and emergency management, endocrine management, and transitions of care across the lifespan. In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management.

Diaphragm Involvement in Duchenne Muscular Dystrophy (DMD): An MRI Study

“…Patients with a defined diagnosis of DMD, ranging in age from 6–32 years, followed at the "E. Medea Scientific Institute" were consecutively enrolled in the study between September 2016 and September 2017. Diagnosis of DMD was based on physical examination, elevated creatine kinase, and genetic and biopsy confirmation of dystrophin mutation or absence, according to established international diagnostic criteria . Exclusion criteria were: claustrophobia, cognitive deficits, all‐day dependence on noninvasive mechanical ventilation, inability to stay still in the scanner, and perform a 10‐second breath‐hold.…”

Fatigue in young people with Duchenne muscular dystrophy

“…1 Children and adolescents with DMD are at increased risk of developmental, emotional, and behavioural problems. Additional musculoskeletal, respiratory, and cardiac complications emerge as DMD advances.…”

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations

“…These care standards have been translated into more than 40 languages, converted into a "family-friendly version" and widely disseminated to clinical care centers throughout the world. In 2017, the CDC DBMD Care Considerations were updated [20][21][22] and implementation efforts are underway. The Duchenne space is fortunate that there exist international, coordinated Duchenne care networks supported by a multitude of advocacy organizations all anchored to published care standards.…”