Standards of Care for Congenital Myopathy (CM)
|Consensus Statement on Standard of Care for Congenital Myopathy
Ching H. Wang, MD, PhD, James J. Dowling, MD, PhD, Kathryn North, MD, FRACP, Mary K. Schroth, MD, Thomas Sejersen, MD, PhD, Frederic Shapiro, MD, Jonathan Bellini, BS, Hali Weiss, MD, Marc Guillet, PT , Kimberly Amburgey, MS, Susan Apkon, MD , Enrico Bertini, MD, Carsten Bonnemann, MD, Nigel Clarke, FRACP, PhD, Anne M. Connolly, MD, Brigitte Estournet-Mathiaud, MD, Dominic Fitzgerald, MD, Julaine M. Florence, DPT, Richard Gee, PT, MS, Juliana Gurgel-Giannetti, MD, PhD, Allan M. Glanzman, PT, DPT, PCS, Brittany Hofmeister, RD, Heinz Jungbluth, MD, Anastassios C. Koumbourlis, MD, MPH, Nigel G. Laing, PhD, Marion Main, MA, MCSP, Leslie A. Morrison, MD, Craig Munns, MD, Kristy Rose, PT, Pamela M. Schuler, MD, Caroline Sewry, PhD, Kari Storhaug, DDS, PhD, Mariz Vainzof, PhD, Nanci Yuan, MD
Journal of Child Neurology: 27 issue: 3, page(s): 363-382.
About the Full Academic Consensus Publication
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. Therefore, there is a great need to establish guidelines for diagnosis and clinical care in congenital myopathies.
The International Standard of Care Committee for Congenital Myopathies, which includes 59 members from 10 medical disciplines, was established to identify current care issues, review literature for evidence-based practice, and achieve consensus for diagnostic and clinical care recommendations in 5 areas:
- Genetics/ diagnosis
- Gastroenterology/ nutrition/ speech/ oral care
- Orthopedics/ rehabilitation.
To achieve consensus on the care recommendations a multistage approach was undertaken that included a comprehensive literature review, a 2-part online survey, and an intensive in-person workshop (3-days). From these activities, an academic article was produced summarizing the full consensus reached by the participants on best-practice care for congenital myopathies. This article was published in the Journal of Child Neurology in November 2012 and it is hoped that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.