Care Guides for Congenital Muscular Dystrophy
Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
Despite recent rapid progress in research leading to a better understanding of disease mechanisms, there is a great deal of variation in the care that patients with congenital muscular dystrophy receive. This can be attributed to two main causes: (1) congenital muscular dystrophies are rare disorders, and (2) the clinical phenotypes are overlapping and can be difficult to distinguish. Clinicians who care for patients with neuromuscular disorders do not always have the necessary expertise to recognise and differentiate the different types of congenital muscular dystrophy on the basis of their clinical presentation, and recent advances in genetic and medical technology have not been widely distributed and accepted in clinical practice. Therefore, there is a great need to establish guidelines for diagnosis and clinical care in congenital muscular dystrophy.
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, two separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009.
From these activities, an academic article was produced summarizing the full consensus reached by the participants on best-practice care for the congenital muscular dystrophies. This article was published in the Journal of Child Neurology in November 2010 and can be accessed via provided.
Congenital Muscular Dystrophy Family Guide
The Congenital Muscular Dystrophy family guide summarizes an international consensus on congenital muscular dystrophy (CMD) diagnosis and medical care. It was created by a working group which was lead by Cure CMD and their effort was also supported by TREAT-NMD, AFM-Association Française contre les Myopathies, and Telethon Italy.
The guide is based on the main academic consensus document which is published in the Journal of Child Neurology (Ching H Wang, et al. Consensus Statement on Standard of Care for Congenital Muscular Dystrophies, J Child Neurology 2010;25(12):1559 –1581. Published online 15 Nov 2010).
The family-guide ‘translates’ the full academic publication into a form that is more readily understandable to non-specialists and will enable families to have a clear guideline that they can use to discuss their care with their care providers.
The treatment guidelines are based on medical management recommendations by a group of 82 international experts from 7 medical subspecialties: pathology, neurology, pulmonary/ICU care, gastrointestinal/nutrition/ speech/oral care, orthopedics/rehabilitation, cardiology, and palliative care.
- To build consensus, the team used the following strategies:
- a comprehensive literature review
- an online expert survey of how CMD care is currently provided in their practice
- an online survey of families’ opinions on key care issues and care gaps in CMD
- a 2-day CMD Standard of Care work shop, held in Brussels in November 2009.
Thanks to Cure CMD this guide has been translated into several different languages available below. If you are interested helping to update these guides please get in touch with us: firstname.lastname@example.org or with Cure CMD Directly: email@example.com
CMD Pulmonary Guide
Cure CMD have also created a Pulmonary guide aimed at affected individuals, families and clinicians. As Pulmonary care is complicated and no clinician can be expected to understand every possible disease with respiratory complications, especially ultra-rare conditions. If you or your pulmonary care team is not familiar with the pulmonary care standards in congenital muscular dystrophy, please review this guide below or visit the KKSK pulmonary web series which is based on the guide.