Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: There is a need to unify diagnostic criteria, develop a comprehensive approach regarding educational and practical challenges in diagnosis, treatment, and outcome measures and to disseminate knowledge about rare diseases.
Background: While the World Health Organization (WHO) does not endorse a single definition for orphan or rare diseases, this group of diseases may be defined as “any disease or condition that affects fewer than 200,000 persons or about 1 in 1,500 people disease”. With recent advances in genetics and other diagnostic techniques there is an increasing number of rare diseases being identified, many of which manifest as movement disorders.
Methods: We intend to achieve our main objectives by (1) characterizing the clinical signs and symptoms suggestive of rare disorders; (2) designing a practical movement-based classification; and (3) creating an international database to include epidemiological, demographic, genetic and therapeutic approaches; and (4) establishing a prospective cohort study to identify novel rare diseases.
Results: The Rare Movement Disorder Study Group (RMDSG) has been endorsed by Officers of the International Parkinson and The Movement Disorder Society on September 1, 2015. A systematic review was conducted to find a universally applicable definition of “rare diseases”. The RMDSG concluded that “rare diseases” was a more appropriate term than "orphan disease" as the latter is considered politically inappropriate. There is an ongoing strategic plan for the RMDSG to increase education about rare diseases.
Conclusions: The RMDSG is bringing together an international team of researchers, patient groups and health professionals to help improve diagnostic and therapeutic options for the growing number of rare diseases and increase education and awareness programs regarding these disorders.
To cite this abstract in AMA style:E.M. Gatto, A. Albanese, K. Bathia, F. Cardoso, M. Cesarini, A. Chade, P. Chana, A. De la Cerda:Chile, A. Espay, J. Etcheverry, J. Ferreira, P. Garcia Ruiz, J. Jankovic, H. Jinnah, R. Kaji, K. Kotschet, C. Marras, J. Miyasaki, F. Morgante, A. Münchau, P. Pal, M.C. Rodriguez Oroz, M. Rodríguez Violante, A. Sanguinetti, L. Schoel. Objectives of the MDS rare movement disorders study group [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/objectives-of-the-mds-rare-movement-disorders-study-group/. Accessed December 7, 2023.
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