Treatable inherited rare movement disorders

Forskningsoutput: TidskriftsbidragÖversiktsartikel

Bibtex

@article{48596c494cdc4545932491beb20aa681,
title = "Treatable inherited rare movement disorders",
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.",
keywords = "experimental therapeutics, inherited disease, orphan disease, Rare disease, treatment",
author = "Jinnah, {H. A.} and Alberto Albanese and Bhatia, {Kailash P.} and Francisco Cardoso and {Da Prat}, Gustavo and {de Koning}, {Tom J.} and Espay, {Alberto J.} and Victor Fung and Garcia-Ruiz, {Pedro J.} and Oscar Gershanik and Joseph Jankovic and Ryuji Kaji and Katya Kotschet and Connie Marras and Miyasaki, {Janis M.} and Francesca Morgante and Alexander Munchau and Pal, {Pramod Kumar} and {Rodriguez Oroz}, {Maria C.} and Mayela Rodr{\'i}guez-Violante and Ludger Sch{\"o}ls and Maria Stamelou and Marina Tijssen and {Uribe Roca}, Claudia and {de la Cerda}, Andres and Gatto, {Emilia M.} and {for the International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders}",
year = "2018",
month = jan,
day = "1",
doi = "10.1002/mds.27140",
language = "English",
volume = "33",
pages = "21--35",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "John Wiley and Sons",
number = "1",

}