Muscle ultrasound in hereditary muscle disease

Neuromuscul Disord. 2022 Dec;32(11-12):851-863. doi: 10.1016/j.nmd.2022.09.009. Epub 2022 Sep 30.

Abstract

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.

Keywords: Hereditary muscle disease; Muscle ultrasound; Muscular dystrophy; Myopathy; Neuromuscular disorders.

Publication types

  • Review

MeSH terms

  • Electromyography
  • Humans
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / pathology
  • Muscles / pathology
  • Muscular Diseases* / pathology
  • Neuromuscular Diseases* / diagnosis
  • Ultrasonography