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.