Neuromuscular imaging, particularly MRI, can facilitate diagnosis, guide genetic testing, and support disease monitoring in muscular dystrophies.
May support MRI in muscular dystrophy workflows; leaves open prospective validation before routine adoption.
Muscular dystrophies are a group of inherited diseases mainly affecting skeletal muscles, which result in progressive disability and often end in loss of ambulation and early demise of the patients. While no specific treatments are available to date, multiple promising therapies are under development. Muscle imaging can detect specific patterns of involvement and facilitate diagnosis and guide genetic testing. Newer imaging techniques can also help to gain insights into pathology and metabolic changes. In addition, quantitative muscle imaging, especially with MRI, can support disease monitoring and may provide a useful parameter and possible end point in future treatment trials.
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Fischmann et al. (2013) studied this question.
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