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Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18.

Approach to the diagnosis of congenital myopathies.

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Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, Australia. Electronic address:
Driscoll Children's Hospital, Corpus Christi, TX, United States.
Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, Australia.
Evelina Children's Hospital, Department of Paediatric Neurology, London, United Kingdom; Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, United Kingdom; Clinical Neuroscience Division, IoP, London, United Kingdom.
Human Genome Research Center, University of Sao Paulo, Sao Paulo, Brazil.
Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada.
Department of Pediatrics, Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ), Garches, France.
Children's Hospital Boston, Boston, MA, United States.
Dubowitz Neuromuscular Centre, London, United Kingdom; Wolfson Centre of Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom.
Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QQ Building, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States.


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.


Congenital myopathy; Diagnosis; Guidelines

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