Role of radiologic imaging in genetic and acquired neuromuscular disorders

Submitted: 20 January 2015
Accepted: 25 February 2015
Published: 11 March 2015
Abstract Views: 1816
PDF: 831
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

Authors

Great technologic and clinical progress have been made in the last two decades in identifying genetic defects of several neuromuscular diseases, as Spinal Muscular Atrophy, genetic muscular dystrophies and other genetic myopathies. The diagnosis is usually challenging, due to great variability in genetic abnormalities and clinical phenotypes and the poor specificity of complementary analyses, i.e., serum creatine kinase (CK) and electrophysiology. Muscle biopsy represents the gold standard for the diagnosis of genetic neuromuscular diseases, but clinical imaging of muscle tissue is an important diagnostic tool to identify and quantifyies muscle damage. Radiologic imaging is, indeed, increasingly used as a diagnostic tool to describe patterns and the extent of muscle involvement, thanks to modern techniques that enable to definethe definition of degrees of muscle atrophy and changes in connective tissue. They usually grade the severity of the disease process with greater accuracy than clinical scores. Clinical imaging is more than complementary to perform muscle biopsy, especially as ultrasound scans are often mandatory to identify the muscle to be biopsied. We will here detail and provideWe will herein provide detailed examples of the radiologic methods that can be used in genetic and acquired neuromuscular disorders, stressing pros and cons.

Dimensions

Altmetric

PlumX Metrics

Downloads

Download data is not yet available.

Citations

Plaudit

How to Cite

Ortolan, P., Zanato, R., Coran, A., Beltrame, V., & Stramare, R. (2015). Role of radiologic imaging in genetic and acquired neuromuscular disorders. European Journal of Translational Myology, 25(2), 121–127. https://doi.org/10.4081/ejtm.2015.5014

Similar Articles

You may also start an advanced similarity search for this article.