The Child Neurology Knowledge Environment

The drafting of these guidelines is the result of a three‐year‐long project guided by the US Centers forDisease Control (CDC) using a rigorous review process that required expert panels to consider morethan 70 thousand different care scenarios. The preparation of the guidelines was supported byadvocacy groups worldwide and by TREAT‐NMD (www.treat‐nmd.eu), an international networkformed to advance diagnosis, care and treatment for people with neuromuscular diseases. In a closecollaboration between TREAT‐NMD, patient advocacy groups and healthcare professionals, the fullacademic publication is also being transformed into a comprehensive “family guide”, which will bemade available at the start of 2010.

There is still no cure for DMD, but it is recognised that receiving the best care can dramaticallyimprove the quality of life and life expectancy of individuals with the condition, enabling them tolead fulfilling, independent lives into adulthood. The importance of care recommendations such asthese therefore cannot be underestimated. The international guidelines, which cover the diagnostics,cardiovascular, neuromuscular, gastroenterology and nutrition, orthopaedic and surgical,psychosocial, rehabilitation and respiratory fields, can be used by doctors, patients and familiesworldwide as a guide to the treatment that individuals with Duchenne should receive at each stageof the disease. They are also a valuable tool for lobbying at a national level to enable incorporation ofthese recommendations into national health systems.

“What is really significant about these guidelines is the weight of international expert opinion behindthem,” explains Kate Bushby, managing editor of the Lancet Neurology article, coordinator of theTREAT‐NMD network and herself a doctor specialising in DMD and related neuromuscular conditions.“Guidelines containing really quite similar recommendations have been produced before, but alwaysby a much smaller group of authors or an individual patient advocacy group, which has meant theyhave been easier to ignore. This document represents real international consensus including both themedical and the patient advocacy perspectives and can be used across the world as a powerful toolto recognize those centres where best practice is already in place and to identify gaps in care.”

Most of the recommendations in the document are not for especially expensive or hard‐to‐obtaintreatments, or indeed for care that is not already available in many of the best centres worldwide.What is stressed is the importance of a multidisciplinary approach – the necessity for patients to seespecialists in all the fields that are involved in DMD, and for those specialists to talk to one another toensure a coordinated approach to the care of each individual. With this authoritative documentbehind them, TREAT‐NMD will work with patient advocacy groups, healthcare professionals andhealth authorities across the world to establish the best ways of implementing theserecommendations and ensuring that all individuals with Duchenne have access to best‐practice care.

Document details

Bushby K et al, Diagnosis and management of Duchenne muscular dystrophy part 1 and Diagnosisand management of Duchenne muscular dystrophy part 2, The Lancet Neurology, In press, 2009

Link to the Lancet Neurology article (parts 1 and 2 combined) hosted on the TREAT‐NMD website: http://www.treat-nmd.eu/diagnosis-and-management-of-dmd

Links to the Lancet Neurology article via Science Direct:

Part 1: http://dx.doi.org/10.1016/S1474-4422(09)70271-6 
Part 2: http://dx.doi.org/10.1016/S1474-4422(09)70272-8

Note: A comprehensive family guide will be made available in January 2010. Anyone interested inreceiving further details or translating the guide into their own native language is invited to contactTREAT‐NMD at info@treat‐nmd.eu.About TREAT‐NMDTREAT‐NMD is an international network that was formed to facilitate collaborative research inneuromuscular disease and create the infrastructure to ensure that the most promising newtherapies reach patients as quickly as possible. The network brings together the key players in theneuromuscular field and is developing the resources that industry, clinicians and scientists need tobring novel therapeutic approaches through preclinical development and into the clinic, as well ashelping to establish best‐practice care for neuromuscular patients worldwide.For more information, visit www.treat‐nmd.eu

About the document creation process

The document was created using a rigorous review process (known as the RAND/UCLAAppropriateness Method or RAM) that required 84 international experts to rate interventions andassessments used in the management of DMD for “appropriateness” or “necessity” at differentstages of the condition. The US Centers for Disease Control and Prevention (CDC) supported itsdevelopment and it was funded under the US MD‐CARE Act. The managing editor was Professor KateBushby of Newcastle University in the UK.About DMDDuchenne muscular dystrophy (DMD) is one of the most common genetic disorders affecting childrenand young adults. It is a severe muscle wasting condition affecting 1 in 3,500 newborn boysworldwide, with onset in early childhood and the ensuing progressive muscle weakness and wastingleading to affected individuals becoming wheelchair bound by their early teens. Without treatment,the condition leads to death by the early twenties. DMD is caused by mutations in the DMD genethat lead to a failure to produce a functional muscle protein called dystrophin. Although severalpossible treatments are currently in clinical trial, there is currently no cure, but care interventionsranging from psychosocial, cardiac and nutritional care and steroid treatment to respiratory andorthopaedic interventions can have a dramatic effect on quality of life and life expectancy.

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