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Muscle ultrasound in hereditary muscle disease

Published:September 30, 2022DOI:https://doi.org/10.1016/j.nmd.2022.09.009

      Highlights

      • Muscle ultrasound offers real time non-invasive imaging with excellent tissue resolution and relative low cost.
      • Muscle ultrasound can aid diagnosis by increasing the yield of needle electromyography and muscle biopsy.
      • Different ultrasound patterns of muscle involvement, degree of echogenic change and atrophy can aid in the differential diagnosis of hereditary muscle disease.
      • Newer quantitative muscle ultrasound techniques now offer increased diagnostic accuracy, reproducibility, and monitoring capacity in genetic muscle disorders.

      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

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