Care for Guides Congenital Myopathies
Consensus Statement on Standard of Care for Congenital Myopathies
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
- Neurology
- Pulmonology
- 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.
Family Guide for Congenital Myopathy
The family guide available on this page summarizes an international consensus on congenital myopathy (CM) diagnosis and medical care. It was created by a diverse working group including research professionals, CM parents, and an individual with CM.
The guide is based on the main academic consensus document which is published in the Journal of Child Neurology by Wang and colleagues in 2012.
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.
