MDS Nomenclature Survey
The system of assigning symbols to specify familial movement disorders (such as 'DYT', 'PARK', 'SCA' etc.) has a number of problems when used as a reference list of genetically determined conditions. These include erroneously assigned, duplicated or unconfirmed genes or chromosomal regions, missing symbols, combination of causative genes and risk factor genes in the same list, and discordance between clinical presentation and list assignment. The advent of next generation sequencing and an even faster identification of new genetic causes for movement disorders, raises additional needs for revision of the current system.
The MDS Task Force for Nomenclature of Genetic Movement Disorders has developed a new a system for naming genetically determined movement disorders that addresses these problems. This system is designed as a resource for both clinicians and researchers.
We would like to acknowledge that it is impossible to be truly comprehensive but have tried to include all of those disorders that have a movement disorder as a consistent and predominant feature. As knowledge of the phenotypic spectrum of these disorders will continuously evolve, it will be necessary to change designations over time. By avoiding a sequential nomenclature, we hope that this will be an easier process than it has been in the past.
We are also conscious of the fact that many of the disorders listed in these tables have well known names that will continue to be used, no matter how logical the new system may be. Finally, by attempting to avoid erroneous assignment of causative mutations, we have presented the challenge of establishing criteria that will minimize false positive assignments.
As part of the peer-review process of this new system and nomenclature, we would like to seek feedback from the MDS membership prior to its publication. We would like to invite you to read the MDS Task Force manuscript ({insert link to the manuscript here}) and to briefly answer the following questions.
Thank you very much for your interest and help with this important project.
Connie Marras and Christine Klein
on behalf of the MDS Task Force for Nomenclature of Genetic Movement Disorders