4.2 Review

Muscle ultrasound in hereditary muscle disease

期刊

NEUROMUSCULAR DISORDERS
卷 32, 期 11-12, 页码 851-863

出版社

PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2022.09.009

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Muscle ultrasound; Hereditary muscle disease; Neuromuscular disorders; Myopathy; Muscular dystrophy

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This article summarizes the key techniques of muscle ultrasound in the context of hereditary muscle diseases. It reviews the diagnostic utility of muscle ultrasound, particularly in guiding electromyography and muscle biopsy sampling. The article also outlines the different patterns of sonographic muscle involvement in various genetic muscle disorders and discusses the limitations of the technique. The aim is to encourage the adoption of ultrasound in the care of patients with hereditary muscle diseases.
In this review we summarise the key techniques of muscle ultrasound as they apply to hereditary muscle disease. We review the diagnostic utility of muscle ultrasound including its role in guiding electromyography and muscle biopsy sampling. We summarize the different patterns of sonographic muscle involvement in the major categories of genetic muscle disorders and discuss the limitations of the technique. We hope to encourage others to adopt ultrasound in their care for patients with hereditary muscle diseases.

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