LAUSR

Muscle imaging has progressively gained popularity in the neuromuscular field. Together with detailed clinical examination and muscle biopsy, it has become one of the main tools for deep phenotyping and orientation of etiological diagnosis. Even in the current era of powerful new generation sequencing, muscle MRI has arisen as a tool for prioritization of certain genetic entities, supporting the pathogenicity of variants of unknown significance and facilitating diagnosis in cases with an initially inconclusive genetic study. Although the utility of muscle imaging is increasingly clear, it has not reached its full potential in clinical practice. Pattern recognition is known for a number of diseases and will certainly be enhanced by the use of machine learning approaches. For instance, MRI heatmap representations might be confronted with molecular results by obtaining a probabilistic diagnosis based in each disease "MRI fingerprints". Muscle ultrasound as a screening tool and quantified techniques such as Dixon MRI seem still underdeveloped. In this paper, we aim to appraise the advances in recent years in pediatric muscle imaging and try to define areas of uncertainty and potential advances that might become standardized to be widely used in the future.