Approach to the diagnosis of congenital myopathies

Kathryn N. North, Ching H. Wang, Nigel Clarke, Heinz Jungbluth, Mariz Vainzof, James J. Dowling, Kimberly Amburgey, Susana Quijano-Roy, Alan H. Beggs, Caroline Sewry, Nigel G. Laing, Carsten G. Bönnemann, Annie Aloysius, Susan Apkon, Jonathan Bellini, Enrico Bertini, Valerie Biancalana, David Birnkrant, Kate Bushby, Anne M. ConnollyBrigitte Estournet-Mathiaud, Ana Ferreiro, Dominic Fitzgerald, Julaine M. Florence, P. T. Richard Gee, Juliana G. Giannetti, Allan Glanzman, Hans Goebel, Marc Guillet, Brittany Hofmeister, Siegfried Labeit, Joceline Laporte, David Little, James Kemp, Anastassios C. Koumbourlis, Marion Main, Dennis Matthews, Leslie A. Morrison, Craig Munns, Francesco Muntoni, Carmen Navarro, Howard Panitch, Katarina Pelin, Kristy Rose, Maria Teresa Santiago, Mary K. Schroth, Thomas Sejersen, Anita Simonds, Almeida Helga Cristina da Silva, Lawrence Rinsky, Norma Romero, Peter Schochet, Pamela M. Schuler, Frederic Shapiro, Kari Storhaug, Carina Wallgren-Pettersson, Colin Wallis, Hali Weiss, Nanci Yuan

Research output: Contribution to journalArticlepeer-review

224 Scopus citations


Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes. The consensus statement was refined by two rounds of on-line survey, and a three-day workshop. This consensus statement provides guidelines to the physician assessing the infant or child with hypotonia and weakness. We summarise the clinical features that are most suggestive of a congenital myopathy, the major differential diagnoses and the features on clinical examination, investigations, muscle pathology and muscle imaging that are suggestive of a specific genetic diagnosis to assist in prioritisation of genetic testing of known genes. As next generation sequencing becomes increasingly used as a diagnostic tool in clinical practise, these guidelines will assist in determining which sequence variations are likely to be pathogenic.

Original languageEnglish (US)
Pages (from-to)97-116
Number of pages20
JournalNeuromuscular Disorders
Issue number2
StatePublished - Feb 2014


  • Congenital myopathy
  • Diagnosis
  • Guidelines

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)


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