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Musculoskeletal Imaging a Potential Diagnosing Tool in Rare Diseases

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Musculoskeletal imaging, particularly ultrasound, may be an important tool in diagnosing rare diseases, according to a study published in the Journal of Ultrasonography. This diagnostic tool has the potential to influence clinical pathways.

A multidisciplinary clinical Center, including 621 main rare diseases, was activated in 2017. One radiologist systematically evaluated all conditions involving the musculoskeletal system from September 2018 to January 2018. A second radiologist verified the list for consistency.

In total, 16% of rare diseases were initially diagnosed with medical imaging. Of those, 36% had rare diseases involving the musculoskeletal system (39% were pediatric disease, 28% were adult age diseases, and 33% were all ages diseases). MRI could be used to diagnose 64%, CT scans in 53%, X-ray in 64%, ultrasound in 25%, and PET in 3%.

The authors concluded: “Musculoskeletal imaging could be important for a non-invasive diagnosis in up to 36/101 (36%) rare diseases, as well as for outcome prediction, especially in pediatrics. Musculoskeletal imaging plays a crucial role in the diagnosis of rare diseases and could strongly influence the clinical pathway. Ultrasound is crucial in up to 25% of patients with rare diseases affecting the musculoskeletal system.”

To view the entire study, click here.


The primary role of radiological imaging in the diagnosis of rare musculoskeletal diseases. emphasis on ultrasound. J Ultrason. 2019;19(78):187-192. DOI: 10.15557/JoU.2019.0028.

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