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.
This CMD Consensus Guidelines is translated into a 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
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.
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.
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.
Pulmonary care is complicated and no clinician can be expected to understand every possible disease with respiratory complications, especially ultra-rare conditions. If your pulmonary care team is not familiar with the pulmonary care standards in congenital muscular dystrophy, please encourage them to review this guide and reach out for additional consultation.
Cure CMD is grateful for the tremendous voluntary contributions made by the authors of this guide and their ongoing dedication.
Patients with CMD may have an increased risk of hypoglycemia during fasting, illness, or stress due to their relatively low muscle mass and hence, paucity of gluconeogenic substrate. Clinicians should therefore maintain a high index of suspicion for hypoglycemia in this high-risk patient population and caregivers should routinely be trained to recognize and treat hypoglycemia.
It has been proposed that low muscle mass in the context of muscle atrophy predisposes children with neuromuscular disorders to hypoglycemia.
This guide is only available in English. Email us at for translations in another language
LMNA clinical guidelines and care protocols are intended to provide information, based on an appraisal of the current best evidence of clinical and cost-effectiveness, regarding therapeutic interventions for given conditions.
The Department of Health also aims to introduce nationally agreed multidisciplinary care protocols which will dictate how certain conditions are to be managed. These developments have the potential to enhance healthcare provision
This guide is a comprehensive care guide developed for families and people with congenital myopathy (CM) in response to community requests for useful information to help them. Along with medical information, the family guide includes testimonies of the challenges, concerns, joys, and triumphs for those living a not-so-typical life.
We sincerely appreciate everyone who contributed. 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.
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 and individuals with Congenital Myopathy.