Consensus statement on standard of care for congenital myopathies

Ching H. Wang, James J. Dowling, Kathryn North, Mary K. Schroth, Thomas Sejersen, Frederic Shapiro, Jonathan Bellini, Hali Weiss, Marc Guillet, Kimberly Amburgey, Susan Apkon, Enrico Bertini, Carsten Bonnemann, Nigel Clarke, Anne M. Connolly, Brigitte Estournet-Mathiaud, Dominic Fitzgerald, Julaine M. Florence, Richard Gee, Juliana Gurgel-GiannettiAllan M. Glanzman, Brittany Hofmeister, Heinz Jungbluth, Anastassios C. Koumbourlis, Nigel G. Laing, Marion Main, Leslie A. Morrison, Craig Munns, Kristy Rose, Pamela M. Schuler, Caroline Sewry, Kari Storhaug, Mariz Vainzof, Nanci Yuan

Research output: Contribution to journalArticlepeer-review

Abstract

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. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/ nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.

Original languageEnglish
Pages (from-to)363-382
Number of pages20
JournalJournal of Child Neurology
Volume27
Issue number3
DOIs
Publication statusPublished - Mar 2012

Keywords

  • cap
  • central core
  • centronuclear
  • congenital myopathy
  • myosin storage
  • myotubular
  • nemaline
  • rod
  • standard of care
  • zebra body

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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