Neuropediatrics 2017; 48(04): 233-241
DOI: 10.1055/s-0037-1604111
Review Article
Georg Thieme Verlag KG Stuttgart · New York

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease

Jodi Warman Chardon
1  Department of Genetics, Children's Hospital of Eastern Ontario/Research Institute, Ottawa, Ontario, Canada
2  Division of Neurology, The Ottawa Hospital/Research Institute, Ottawa, Canada
3  The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
,
Volker Straub
3  The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
› Author Affiliations
Further Information

Publication History

21 May 2017

28 May 2017

Publication Date:
02 July 2017 (eFirst)

Abstract

Muscle magnetic resonance imaging (MRI) and ultrasound (US) are emerging tools to assist in the diagnosis of children with genetic muscle disease. Increasing number of studies demonstrate that these imaging techniques can identify selective patterns of muscle atrophy, fatty degeneration, and muscle edema that help to distinguish between different early-onset genetic myopathies and muscular dystrophies. Recognizing patterns of pathology by muscle imaging can help to guide genetic testing and avoid the more invasive procedure of a muscle biopsy. Conversely, since massive parallel sequencing is now more commonly used as the initial step in diagnostic testing, imaging techniques can help to confirm or exclude if a variant of uncertain significance is indeed disease causing and compatible with a pattern of pathology as detected by muscle imaging. Whereas for diagnostic purposes and pattern recognition, muscle pathology does not need to be quantified, measuring disease progression is increasingly supported by quantitative muscle imaging, which is critical given the recent increment in rare disease therapeutic trials. Here, we discuss the value of muscle imaging techniques in pediatric muscle disease and summarize data identifying specific patterns of involvement in muscle MRI and US in some of the more common genetic myopathies and muscular dystrophies.