Keywords:
Neoplasia, Genetic defects, Congenital, Education, Diagnostic procedure, Decision analysis, Ultrasound, MR, CT, Neuroradiology peripheral nerve, Musculoskeletal system, Musculoskeletal soft tissue
Authors:
F. Rossi1, G. Murialdo2, A. Schenone3, M. Grandis2, D. Ferone2, A. Tagliafico3; 1IT, 2Genoa/IT, 3Genova/IT
DOI:
10.1594/essr2018/P-0019
Purpose
In July 2017,
in Genoa,
a clinical Center specialized in rare disease was funded,
designed to help Patients who are still struggling in search of a defined diagnosis.
[1] As defined by the European Union Regulation on Orphan Medicinal Products (1999),
in European Countries a disease is rare when one in 2000 people is interested.
[2] These pathologies are often serious,
chronic,
with a progressive and worsening course and may be life-threatening. Rare diseases are also known as “orphan” diseases because the diagnosis is often very difficult or is misinterpreted. [3] The role of a timely and accurate diagnosis is crucial to improve care for “Invisible Patients”,
with a significant positive impact on their life.
[4-5] To overcome this challenge,
an imaging approach is usually performed and could be the most important diagnostic tool for several rare diseases.
Medical imaging is crucial not only for diagnosis,
but also for therapy monitoring and even outcome prediction.
Rare disease can involve all the systems and organs,
including also the Musculoskeletal system.
Therefore,
the purpose of the present study is to assess when Medical Imaging plays a primary role in the diagnostic path of a rare disease with a special emphasis on conditions involving Musculoskeletal system.