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Treatable inherited rare movement disorders

Jinnah, H. A. ; Albanese, Alberto ; Bhatia, Kailash P. ; Cardoso, Francisco ; Da Prat, Gustavo ; de Koning, Tom J. LU ; Espay, Alberto J. ; Fung, Victor ; Garcia-Ruiz, Pedro J. and Gershanik, Oscar , et al. (2018) In Movement Disorders 33(1). p.21-35
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,... (More)

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.

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author collaboration
publishing date
type
Contribution to journal
publication status
published
subject
keywords
experimental therapeutics, inherited disease, orphan disease, Rare disease, treatment
in
Movement Disorders
volume
33
issue
1
pages
15 pages
publisher
John Wiley & Sons Inc.
external identifiers
  • scopus:85028622983
  • pmid:28861905
ISSN
0885-3185
DOI
10.1002/mds.27140
language
English
LU publication?
no
id
48596c49-4cdc-4545-9324-91beb20aa681
date added to LUP
2020-02-11 12:42:26
date last changed
2024-04-03 02:44:45
@article{48596c49-4cdc-4545-9324-91beb20aa681,
  abstract     = {{<p>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.</p>}},
  author       = {{Jinnah, H. A. and Albanese, Alberto and Bhatia, Kailash P. and Cardoso, Francisco and Da Prat, Gustavo and de Koning, Tom J. and Espay, Alberto J. and Fung, Victor and Garcia-Ruiz, Pedro J. and Gershanik, Oscar and Jankovic, Joseph and Kaji, Ryuji and Kotschet, Katya and Marras, Connie and Miyasaki, Janis M. and Morgante, Francesca and Munchau, Alexander and Pal, Pramod Kumar and Rodriguez Oroz, Maria C. and Rodríguez-Violante, Mayela and Schöls, Ludger and Stamelou, Maria and Tijssen, Marina and Uribe Roca, Claudia and de la Cerda, Andres and Gatto, Emilia M.}},
  issn         = {{0885-3185}},
  keywords     = {{experimental therapeutics; inherited disease; orphan disease; Rare disease; treatment}},
  language     = {{eng}},
  month        = {{01}},
  number       = {{1}},
  pages        = {{21--35}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Movement Disorders}},
  title        = {{Treatable inherited rare movement disorders}},
  url          = {{http://dx.doi.org/10.1002/mds.27140}},
  doi          = {{10.1002/mds.27140}},
  volume       = {{33}},
  year         = {{2018}},
}