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. Connolly & 39 others Brigitte 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 journalArticle

129 Citations (Scopus)

Abstract

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
Volume24
Issue number2
DOIs
StatePublished - Feb 2014

Fingerprint

Myotonia Congenita
Muscles
Pathology
Genes
Mutation
Muscle Hypotonia
Genetic Testing
Standard of Care
Practice Guidelines
Differential Diagnosis
Guidelines
Physicians
Education

Keywords

  • Congenital myopathy
  • Diagnosis
  • Guidelines

ASJC Scopus subject areas

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

Cite this

North, K. N., Wang, C. H., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J. J., ... Yuan, N. (2014). Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, 24(2), 97-116. https://doi.org/10.1016/j.nmd.2013.11.003

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

In: Neuromuscular Disorders, Vol. 24, No. 2, 02.2014, p. 97-116.

Research output: Contribution to journalArticle

North, KN, Wang, CH, Clarke, N, Jungbluth, H, Vainzof, M, Dowling, JJ, Amburgey, K, Quijano-Roy, S, Beggs, AH, Sewry, C, Laing, NG, Bönnemann, CG, Aloysius, A, Apkon, S, Bellini, J, Bertini, E, Biancalana, V, Birnkrant, D, Bushby, K, Connolly, AM, Estournet-Mathiaud, B, Ferreiro, A, Fitzgerald, D, Florence, JM, Richard Gee, PT, Giannetti, JG, Glanzman, A, Goebel, H, Guillet, M, Hofmeister, B, Labeit, S, Laporte, J, Little, D, Kemp, J, Koumbourlis, AC, Main, M, Matthews, D, Morrison, LA, Munns, C, Muntoni, F, Navarro, C, Panitch, H, Pelin, K, Rose, K, Santiago, MT, Schroth, MK, Sejersen, T, Simonds, A, da Silva, AHC, Rinsky, L, Romero, N, Schochet, P, Schuler, PM, Shapiro, F, Storhaug, K, Wallgren-Pettersson, C, Wallis, C, Weiss, H & Yuan, N 2014, 'Approach to the diagnosis of congenital myopathies', Neuromuscular Disorders, vol. 24, no. 2, pp. 97-116. https://doi.org/10.1016/j.nmd.2013.11.003
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ et al. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders. 2014 Feb;24(2):97-116. https://doi.org/10.1016/j.nmd.2013.11.003
North, Kathryn N. ; Wang, Ching H. ; Clarke, Nigel ; Jungbluth, Heinz ; Vainzof, Mariz ; Dowling, James J. ; Amburgey, Kimberly ; Quijano-Roy, Susana ; Beggs, Alan H. ; Sewry, Caroline ; Laing, Nigel G. ; Bönnemann, Carsten G. ; Aloysius, Annie ; Apkon, Susan ; Bellini, Jonathan ; Bertini, Enrico ; Biancalana, Valerie ; Birnkrant, David ; Bushby, Kate ; Connolly, Anne M. ; Estournet-Mathiaud, Brigitte ; Ferreiro, Ana ; Fitzgerald, Dominic ; Florence, Julaine M. ; Richard Gee, P. T. ; Giannetti, Juliana G. ; Glanzman, Allan ; Goebel, Hans ; Guillet, Marc ; Hofmeister, Brittany ; Labeit, Siegfried ; Laporte, Joceline ; Little, David ; Kemp, James ; Koumbourlis, Anastassios C. ; Main, Marion ; Matthews, Dennis ; Morrison, Leslie A. ; Munns, Craig ; Muntoni, Francesco ; Navarro, Carmen ; Panitch, Howard ; Pelin, Katarina ; Rose, Kristy ; Santiago, Maria Teresa ; Schroth, Mary K. ; Sejersen, Thomas ; Simonds, Anita ; da Silva, Almeida Helga Cristina ; Rinsky, Lawrence ; Romero, Norma ; Schochet, Peter ; Schuler, Pamela M. ; Shapiro, Frederic ; Storhaug, Kari ; Wallgren-Pettersson, Carina ; Wallis, Colin ; Weiss, Hali ; Yuan, Nanci. / Approach to the diagnosis of congenital myopathies. In: Neuromuscular Disorders. 2014 ; Vol. 24, No. 2. pp. 97-116.
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