Treatable inherited rare movement disorders.


There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials. © 2017 International Parkinson and Movement Disorder Society.

DOI: 10.1002/mds.27140

Cite this paper

@article{Jinnah2017TreatableIR, title={Treatable inherited rare movement disorders.}, author={Hyder Azad Jinnah and Alberto Albanese and Kailash P Bhatia and Francisco Cardoso and Gustavo A Da Prat and T J de Koning and Alberto J Espay and Victor Fung and Pedro Jos{\'e} Garc{\'i}a-Ruiz and Oscar S. Gershanik and Joseph Jankovic and Ryuji Kaji and Katya E Kotschet and Connie Marras and Janis M. Miyasaki and Francesca Morgante and Alexander Munchau and Pramod Kumar Pal and Mayela Rodr{\'i}guez-Violante and Ludger Sch{\"{o}ls and Maria Stamelou and M. A. J. Tijssen and Claudia Uribe Roca and Andr{\'e}s de la Cerda and Emilia Mabel Gatto}, journal={Movement disorders : official journal of the Movement Disorder Society}, year={2017} }