Duchenne muscular dystrophy (DMD or Duchenne) is a difficult, complex diagnosis to understand and manage. This is not a world that anyone enters willingly. The Muscular Dystrophy Association, Parent Project Muscular Dystrophy (PPMD), TREAT-NMD and the World Duchenne Organization (WDO) all understand the heartache and angst that parents feel with this diagnosis, and the support that is needed thereafter. As you journey through this diagnosis, it is important to all of us that you or your child receive the very best in care, support and resources. For this reason, we have worked together to develop this 2018 Duchenne Family Guide.
Duchenne is one of a spectrum of muscle diseases known as”dystrophinopathies.” Dystrophinopathies result from the absence of the muscle protein “dystrophin“ and range from the more severe phenotype (symptoms that you see) Duchenne muscular dystrophy to the milder, yet variable phenotype of Becker muscular dystrophy. For simplicity, we primarily refer to Duchenne throughout this Family Guide.
We have written this Family Guide to be directed toward the parent in the Diagnosis and Early Ambulatory Phase, and to the person living with Duchenne. For the purposes of this document, “you” refers to the person living with Duchenne.
"This is a guide to the 'medical' aspects of DMD, but always bear in mind that the medical side isn't everything. The idea is that by minimizing medical problems, your son can get on with his life and you can get on with being a family. It's good to remember that most Duchenne boys are happy kids and most families do very well after the initial shock of the diagnosis."
World Duchenne Organisation
Background of the Duchenne “Care Considerations”
The US Centers for Disease Control and Prevention (CDC) guidelines for Duchenne Care are affectionately known in the community as the “care considerations.” Both the original and updated care considerations are based on an extensive study by 84 international experts in Duchenne diagnosis and care, chosen to represent a broad range of specialties. They independently “rated” methods of care used in the management of Duchenne to say how “necessary”, “appropriate” or “inappropriate” each one was at different stages of the course of Duchenne. In total they considered more than 70,000 different scenarios. This allowed them to establish guidelines that the majority agreed represented the “best practice” for Duchenne care. The updated guidelines were developed using the same process.
The 2018 Duchenne Family Guide summarises the results of the updates for the medical care of Duchenne muscular dystrophy (Duchenne). Both the original effort, as well as the updated guidelines, were supported by the CDC in collaboration with patient advocacy groups and the TREAT-NMD network. The documents are published in Lancet Neurology and are available on the websites of PPMD, MDA, WDO, TREAT-NMD and the CDC. Additionally, thanks to TREAT-NMD and WDO, multiple translations are available through TREAT-NMD.
In addition, each subspeciality area developed a separate article, for a deeper dive into their specific area of care. These articles will be published in a Pediatric Supplement volume of the journal Pediatrics, the official journal of the American Academy of Pediatrics in 2018 and will be available through the websites listed below.
References for the main document:
PUBLISHED CARE GUIDELINES
- Diagnosis and management of Duchenne muscular dystrophy, an update, part 1: Diagnosis, neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
- Diagnosis and management of Duchenne muscular dystrophy, an update, part 2: Respiratory, cardiac, bone health, and orthopedic management
- Diagnosis and management of Duchenne muscular dystrophy, an update, part 3: Primary care, emergency management, psychosocial care, and transitions of care across the lifespan
- CDC: www.cdc.gov/ncbddd/musculardystrophy/care-considerations.html
- Parent Project Muscular Dystrophy: www.parentprojectmd.org/careguidelines
- MDA: www.mda.org
- World Duchenne Organization: https://worldduchenne.org/
- TREAT NMD: www.treat-nmd.org/dmd-care