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International Parkinson and Movement Disorder Society
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Rare Movement Disorders Study Group

Emilia Gatto Mayela Rodriguez Violante
Chair: Bhatia, Kailash Chair: Sarva, Harini

MDS Staff Liaison: Shannon Fraaza

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  Steering Committee

Nicolás Phielipp
Bettina Balint
Christopher Stephen
Federico Rodriguez-Porcel


Alberto Albanese
Ignacio H.I. Amorin
Bettina Balint
Amit Batla
Jose Antonio Bueri
Francisca Canals
Miryam Carecchio
Francisco Cardoso
Adriana M. Cardozo Dodera
Vanessa S. Carvalho
Martin Emiliano Cesarini
Anabel R. Chade
Pedro Chana-Cuevas
Daniela Muñoz Chesta
Emilia Gatto
Leonor Correia Guedes
Giovanni Cossu
Alejandra Darling
Marina AJ De Koning-Tijssen
Andres De La Cerda Sr.
Marcus Vinicius Della Coletta

Antoine Duquette
Tatiana Bremova-Ertl
Alberto J. Espay
Jose Luis Alberto Etcheverry Sr.
Joaquim J. Ferreira
Jennifer R. L. Friedman
Victor SC Fung
Jacky Ganguly
Christos Ganos
Pedro J. Garcia Ruiz
Oscar S. Gershanik
Kenneth Gross
Mariam Hull
Joseph Jankovic
Hyder A. Jinnah
Ryuji Kaji
Han-Joon Kim
Katya E. Kotschet
Andrés Lescano Da Rosa
Irene Litvan
Naomi J. Lubarr

Massimo Marano
Maria Josefa Marti
Celia Painous Marti
Francesca Magrinelli
Daniel Martinez-Ramirez
Adys Mendizabal
Francesca Morgante
Pramod K. Pal
Maria Cecilia Peralta
Nicolas M. Phielipp
Giulietta M. Riboldi
Maria C. Rodriguez-Oroz
Federico J. Rodriguez-Porcel
Ludger Schoels
Maria Stamelou
Christopher D. Stephen
Marcela C. Uribe Roca
Enza Maria Valente
Mayela Rodriguez Violante
Ruth H. Walker



The World Health Organization (WHO) does not endorse a single definition for orphan diseases. In some countries (e.g., Japan, Argentina, United States) an accepted prevalence ranges from 1/ 1,000 to 1/ 2,500; while in others (e.g., European Commission) require not only a low prevalence but also a “life-threatening or chronically debilitating clinical condition”. With the recent advances in molecular genetics there is an increasing number of rare diseases being identified, many of them involving movement disorders.

Orphan or Rare Movement Disorders (RMD) comprise a large number of rare and disabling disorders with a wide phenotypic spectrum that often emerge in childhood. A number of issues regarding patient identification, diagnosis, standard of care, lack of specific medical treatment and outcome measures constitute relevant reasons to develop a study group focusing on this topic.

Currently, the RMD Study Group aims to bring together researchers, patient groups and health professionals; as well as to stimulate research to improve diagnostic and therapeutic options for orphan diseases including those with movement disorders. Nevertheless, a coordinated effort at an international level is required to advance RMD research, and increase education and awareness regarding these disorders.

The Study Group represents an opportunity to develop an international registry of RMD. This registry will facilitate the development of high quality worldwide observational and interventional studies of RMD.


•    To define, characterize and establish frequency of RMD
•    To work toward developing international harmonization consensus to promote diagnosis, identification, classification, diffusion, research and translational trials for orphan diseases with movement disorders
•    To define standard diagnostic procedures
•    To harmonize with the Task Force for the Nomenclature of Genetically determined Movement Disorders
•    To develop, translate and validate educational-specific curriculum for these disorders
•    To develop Good Clinical Practice (GCP) guidelines for diagnosis and pharmacologic as well as non-pharmacologic treatments
•    To integrate RMD collaborative research studies

Ongoing Projects

Our members are currently working on the first draft questionnaire, addressing the definition, characterization, and frequency of the most relevant RMD-related issues in order to create a position paper highlighting the current gaps and guiding future efforts.

If you have something to contribute to these current group project topics, please reach out to the contact:
• Wilson’s Disease: Neil Mahant,
• DBS Dystonia Series: Harini Sarva or Federico Rodriguez-Porcel
• VAC14 Dystonia Parkinsonism: Christopher Stephen,
• Rational for the International Polycynthemia Vera and Movement Disorders Series: Emilia Gatto,
• Rational for Hemochromatosis and Movement Disorders: Pedro Garcia Ruiz,


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