Journal Article (Review Article)

DZNE-2020-06050

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Treatable inherited rare movement disorders.

Jinnah, H. A. (Corresponding author) ; Albanese, A. ; Bhatia, K. P. ; Cardoso, F. ; Da Prat, G. ; de Koning, T. J. ; Espay, A. J. ; Fung, V. ; Garcia-Ruiz, P. J. ; Gershanik, O. ; Jankovic, J. ; Kaji, R. ; Kotschet, K. ; Marras, C. ; Miyasaki, J. M. ; Morgante, F. ; Munchau, A. ; Pal, P. K. ; Rodriguez Oroz, M. C. ; Rodríguez-Violante, M. ; Schöls, L.DZNE* ; Stamelou, M. ; Tijssen, M. ; Uribe Roca, C. ; de la Cerda, A. ; Gatto, E. M. ; Disorders, I. P. D. M. D. S. T. F. o. R. M.

2018
Wiley New York, NY

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Please use a persistent id in citations: doi:10.1002/mds.27140

Abstract: 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.

Keyword(s): Clinical Trials as Topic: methods (MeSH) ; Humans (MeSH) ; Movement Disorders: genetics (MeSH) ; Movement Disorders: therapy (MeSH) ; Rare Diseases: genetics (MeSH) ; Rare Diseases: therapy (MeSH) ; Treatment Outcome (MeSH)

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Contributing Institute(s):

1. Clinical Neurogenetics (AG Schöls)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2018

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Web of Science Core Collection

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