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The old adage, “knowledge is power” was never been more true than in the face of a congenital disease affecting those we love and care for. This guide provides a foundation of information for families so that we may shift from the frustration of powerlessness to becoming an active participant in care and advocacy. All productive systems of care require a team approach and by providing families with medical information, in terms we can understand and share with professionals, this guide will enable us to more effectively participate on the team which is essential for the well-being of the individual with CMD.
The Family Guide is the translation of the CMD Consensus Guidelines into language that is easy to understand. This project was led by Dr. Thomas Sejersen and managed by Diane Smith Hoban and Susan Sklaroff Van Hook. Additional contributors: Anne Rutkowski, MD, Meganne Leach, PNP, Ching Wang, MD, Kate Bushby, MD, Katy Meilleur, PNP,PhD, Carsten Bonnemann, MD
The CMD Consensus Guidelines represent the efforts of an international CMD clinical consortium led by Dr. Ching Wang, Dr. Thomas Sejersen and Dr. Anne Rutkowski and was made possible through the generous support of TREAT-NMD, AFM, Telethon and Cure CMD.
Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The finalconsensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.
The Care of Congenital Myopathy: A Guide for Families is a comprehensive care guide developed for families and people with congenital myopathy (CM) in response to community requests for useful information to help guide them. This work began as a translation into easily understood language from the Consensus Statement on Standard of Care for Congenital Myopathies medical document that was published in 2012 by Wang and colleagues in the Journal of Child Neurology. As the guide for families took shape, it was apparent that the guidebook would include much more than basic medical information, since we had terrific input every step of the way from the very people living with and caring for someone with CM. The family guide became testimony to many of the challenges, joys, concerns, and triumphs that are typical for those living a not-so-typical life. Our sincere appreciation goes out to everyone that contributed to what we hope will be an engaging, informative manual for families andindividuals with Congenital Myopathy.
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies.
The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences,periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee’s recommendations for symptom assessments and therapeutic interventions. It is the committee’s goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.