Skip to Content
 
International Parkinson and Movement Disorder Society

 

Rare Movement Disorders Study Group

Main Content

Join now »

Have questions? Contact the MDS Staff Liaison, Shannon Fraaza, at sfraaza@movementdisorders.org

Mandate/Purpose

  • 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
View background  

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.

View the group's: 

 

 

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:

Leadership

Bhatia
Chair
Kailash Bhatia

Mayela Rodriguez Violante
Chair
Harini Sarva

Steering Committee

Bettina Balint
Nicolás Phielipp
Federico Rodriguez-Porcel
Christopher Stephen

Members

Abdullahi, Auwal
Acurio, Karlos
Adarmes Gomez, Astrid
Aderinto, Nicholas
Agarwal, Pankaj
Aggarwal, Annu
Albanese, Alberto
Albor, Lauren
Alimohamed, Mohamed
Amorin, Ignacio
Aquino, Camila
Barad, Narendrakumar
Barsottini, Orlando
Batla, Amit
Bavdhankar, Koustubh
Berg, Daniela
Bhowmick, Suvorit
Bohnen, Nicolaas
Bremova-Ertl, Tatiana
Bueri, Jose Antonio
Canals, Francisca
Cardoso, Francisco
Cardozo, Adriana
Carecchio, Miryam
Cartella, Sandy
Carvalho, Vanessa
Cesarini, Martin
Chade, Anabele
Chana, Pedro
Chandran, Suresh
Chavda, Vishal
Chen, Nita
Cherian, Ajith
Chouksey, Dinesh
Correia Guedes, Leonor
Cossu, Giovanni
Cullis, Paul
Dalla Zanna, Gianmarco
Darling, Alejandra
Das, Animesh
Dashti, Masoumeh
De Koning-Tijssen, Marina
De la Cerda, Andrés
Deik, Andres

Della Coletta, Marcus V.
Desai, Soaham Dilip
Dosekova, Petra
Dujardin, Kathy
Dulski, Jaroslaw
Duquette, Antoine
Eid, Abdulmunaim
Erro, Roberto
Espay, Alberto
Etcheverry, Jose
Fereshtehnejad, Seyed-Mohammad
Ferreira, Joaquim
Frank, Samuel
Friedman, Jennifer
Fung, Victor
Ganguly, Jacky
Ganos, Christos
Garcia Ruiz, Pedro
Garg, Divyani
Gatto, Emilia
Gershanik, Oscar
Gibson, Valerie
Giulietta Riboldi, Maria
Gonzalez Martinez, Victoria
Goyal, Sheetal
Gross, Kenneth B.V.
Gulati, Kartika
Hakaj, Erlinda
Halliday, Glenda
Harishma, RS
Heim, Beatrice
Holla, Vikram
Hu, Michele
Hull, Mariam
Jankovic, Joseph
Jeon, Beomseok
Jinnah, Hyder
K P, Divya
Kaji, Ryuji
Kamath, Sneha
Kandadai, Rukmini
Kaya Gulec, Zeynep
Kilbane, Camilla
Kim, Han-Joon

Klein, Christine
Kocer, Bilge
Kotschet, Katya
Labaure Amengual, Nicholas
Lapshova, Darya
Leentjens, Albert
Lescano Da Rosa, Andrés
Lim, Wei Kang
Litvan Irene
Lizarraga, Karlo
Lubarr, Naomi
Maamary, Joel
Magrinelli, Francesca
Mahant, Neil
Marano, Massimo
Marinus, Johan
Marras, Connie
Martí, Maria Jose
Martinez-Ramirez, Daniel
Martino, Davide
McDermott, Michael
Mecheri, Yasser
Meinck, Hans-Michael
Mendizabal, Adys
Morales, Hugo
Mesaros, Maysen
Mesihovic, Luka
Mestre, Tiago
Milenkovic, Ivan
Mohd Fauzi, Nor Amelia
Mollenhauer, Brit
Montiel, Marcela
Morgante, Francesca
Moura, Joao
Muñoz Chesta, Daniela
Murphy, Michael
Nasif, Salome
Nawaz, Jr, Ahmad
Novotni, Gabriela
Painous Marti, Celia
Pal, Pramod
Pandita, Neha
Pandey, Sanjay
Peralta, María Cecilia

Perez Hornos, Gonzalo
Postuma, Ron
Radhakrishnan, Divya
Raj, Jidhin
Ray, Somdattaa
Relja, Maja
Riveros Cortes, Paola
Rodrigues, Ana
Rodriguez, Ramon
Rodríguez Oroz, María Cruz
Rodriguez Violante, Mayela
Saeed, Mamoun
Salles, Philippe
Sarkar, Swagata
Saunders-Pullman, Rachel
Schoels, Ludger
Siddiqui, Junaid
Simuni, Tatyana
Situ Kcomt, Miguel
Smilowska, Katarzyna
Sobreira Lima Verde, Ana Silvi
Stamelou, Maria
Stoilova, Juliana
Subramanian, Velusamy
Sue, Carolyn
Surmeier, Dalton
Suroliya, Varun
Tabibi, Mohammad Ali
Tchikadze, Nino
Terkanic, Christian
Thi Nguyen, Huyen
Tsoma, Eugenia
Umaiorubahan, Meenakshisundaram
Uribe Roca, Claudia
Usman, Jibrin
Valente, Enza Maria
Van Hilten, Jacobus
Villanueva-Fischberg, Gezel
Vo, Khang
Voloshyn-Haponov, Ivan
Walker, Ruth
Weintraub, Daniel
Witek, Natalie

Resource Type

Please wait while we gather your results.

All MDS Groups    All Study Groups