Please note: A revised family guide with the updated care recommendations is available in English. Further translations and an updated website are in development.
This guide contains a lot of information. You can use it in two different ways. Some families prefer to concentrate on the stage of DMD that their child has reached. Others like to understand as much as possible about every aspect of DMD from the start.
In the section disease stages you can see how experts think about the different stages of DMD and how the care needs of someone with DMD changes over that time. Then if you want to go directly to the parts of the document which are relevant to you now, you should be able to find them easily. At the end of the document, there are two sections that might be important to have as an easy reference: things to remember if surgery is planned and things to consider in an emergency situation. We have colour-coded the different sections to match with the colours in the figure 1. There is a glossary at the end of the booklet to help you to understand any difficult terms that you find here or that our care team might use.
“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 minimising 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.”
United Parent Projects Muscular Dystrophy
This guide for families summarises the results of an international consensus on the medical care of Duchenne muscular dystrophy (DMD). This effort was supported by the US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups and the TREAT-NMD network. The main document is published in Lancet Neurology.
The recommendations are based on an extensive study by 84 international experts in DMD diagnosis and care chosen to represent a broad range of specialties. They independently “rated” methods of care used in the management of DMD to say how “necessary”, “appropriate” or “inappropriate” each one was at different stages of the course of DMD. 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 DMD care.
The experts stressed that the best management of DMD requires a multidisciplinary approach, with the input of specialists in many different areas, and that there must be a doctor or medical professional that coordinates these efforts. Because everybody is different, the person with DMD and his family should be actively engaged with a medical professional who will coordinate and individualise clinical care.
This document will provide you with basic information to allow you to participate effectively in this process. The doctor or medical professional who coordinates care must be aware of all potential issues in DMD and must have access to the interventions that are the foundations for proper care and to input from different specialties. The emphasis of interventions will change over time. This guide takes you through the different topics or domains of DMD care (Figure 1). Not all of these specialists will be needed at all stages of the condition, but it is important that they are accessible if necessary and that the person coordinating care has support in all these areas.
Bushby K, et al. The Diagnosis and Management of Duchenne Muscular Dystrophy, part 1: diagnosis, and pharmacological and psychosocial management, Lancet Neurology 2010, 9(1) 77-93.
Bushby K, et al. The Diagnosis and Management of Duchenne Muscular Dystrophy, part 2: implementation of multidisciplinary care, Lancet Neurology 2010, 9(2) 177-189.
The main document can be downloaded free from http://www.treat-nmd.eu/diagnosis-and-management-of-DMD/
Information based on consensus statement (published in January 2010)