Rare Movement Disorders Study Group

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Chair: Bhatia, Kailash	Chair: Sarva, Harini

MDS Staff Liaison: Shannon Fraaza

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.

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
 

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, nmahant@gmail.com
• DBS Dystonia Series: Harini Sarva has9059@med.cornell.edu or Federico Rodriguez-Porcel rodrigfe@musc.edu
• VAC14 Dystonia Parkinsonism: Christopher Stephen, cstephen@mgh.harvard.edu
• Rational for the International Polycynthemia Vera and Movement Disorders Series: Emilia Gatto, emiliamgatto@gmail.com
• Rational for Hemochromatosis and Movement Disorders: Pedro Garcia Ruiz, pgarcia@fjd.es