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 mechani...
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| Published in | Movement disorders Vol. 33; no. 1; pp. 21 - 35 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Wiley Subscription Services, Inc
01.01.2018
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| Subjects | |
| Online Access | Get full text |
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| Abstract | 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 |
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| AbstractList | 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 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. 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. 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 |
| Author | Cardoso, Francisco Jankovic, Joseph Bhatia, Kailash P. de Koning, Tom J. Morgante, Francesca Rodríguez‐Violante, Mayela de la Cerda, Andres Pal, Pramod Kumar Kaji, Ryuji Gatto, Emilia M. Munchau, Alexander Da Prat, Gustavo Schöls, Ludger Espay, Alberto J. Tijssen, Marina Fung, Victor Uribe Roca, Claudia Stamelou, Maria Miyasaki, Janis M. Rodriguez Oroz, Maria C. Garcia‐Ruiz, Pedro J. Albanese, Alberto Kotschet, Katya Gershanik, Oscar Jinnah, H. A. Marras, Connie |
| AuthorAffiliation | 33 Department of Neurology, Affiliated University of Buenos Aires and University DelSalvadore, Buenos Aires, Argentina 21 University Hospital Donostia, Madrid, Spain 10 Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, Australia 27 German Center for Neurodegenerative Diseases, Tubingen, Germany 22 BioDonostia Research Institute, Basque Center on Cognition, Brain and Language, San Sebastian, Madrid, Spain 16 The Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Canada 25 Movement Disorders Clinic, National Institute of Neurology and Neurosurgery, Mexico City, Mexico 5 Department of Internal Medicine, Movement Disorders Clinic, Neurology Service, UFMG, Belo Horizonte, MG, Brazil 26 Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany 23 Ikerbasque, B |
| AuthorAffiliation_xml | – name: 28 Neurology Clinic, Philipps University Marburg, Marburg, Germany – name: 30 Department of Neurology, University Medical Center Groningen, University of Groningen, The Netherlands – name: 21 University Hospital Donostia, Madrid, Spain – name: 32 Clinica Davila, CINSAN, Universidad de los Andes, Santiago, Chile – name: 2 Department of Neurology, Humanitas Research Hospital, Rozzano, Italy – name: 5 Department of Internal Medicine, Movement Disorders Clinic, Neurology Service, UFMG, Belo Horizonte, MG, Brazil – name: 11 Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain – name: 23 Ikerbasque, Basque Foundation for Science, Bilbao, Spain – name: 22 BioDonostia Research Institute, Basque Center on Cognition, Brain and Language, San Sebastian, Madrid, Spain – name: 18 Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy – name: 26 Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany – name: 19 Department of Pediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany – name: 27 German Center for Neurodegenerative Diseases, Tubingen, Germany – name: 6 Department of Neurology, Affiliated University of Buenos Aires, Buenos Aires, Argentina – name: 12 Institute of Neuroscience, Favaloro Foundation University Hospital, Buenos Aires, Argentina – name: 3 Catholic University, Milan, Italy – name: 8 Department of Genetics, Pediatrics and Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands – name: 15 Clinical Neurosciences, St. Vincent's Health, Melbourne, Australia – name: 31 Department of Neurology, British Hospital of Buenos Aires, Buenos Aires, Argentina – name: 33 Department of Neurology, Affiliated University of Buenos Aires and University DelSalvadore, Buenos Aires, Argentina – name: 14 Department of Neurology, Tokushima University Graduate School of Medicine, Tokushima, Japan – name: 7 University DelSalvadore, Buenos Aires, Argentina – name: 10 Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, Australia – name: 4 Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom – name: 29 Parkinson's Disease and Other Movement Disorders Department, HYGEIA Hospital, Athens, Greece – name: 1 Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, Georgia, USA – name: 9 James J. and Joan A. Gardner Center for Parkinson's disease and Movement Disorders, University of Cincinnati, Ohio, USA – name: 20 Department of Neurology, National Institute of Mental Health & Neuroscience, Bangalore, India – name: 13 Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas, USA – name: 16 The Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Canada – name: 17 Division of Neurology, University of Alberta, Edmonton, Canada – name: 24 Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain – name: 25 Movement Disorders Clinic, National Institute of Neurology and Neurosurgery, Mexico City, Mexico |
| Author_xml | – sequence: 1 givenname: H. A. surname: Jinnah fullname: Jinnah, H. A. email: hjinnah@emory.edu organization: Human Genetics and Pediatrics, Emory University – sequence: 2 givenname: Alberto orcidid: 0000-0002-5864-0006 surname: Albanese fullname: Albanese, Alberto organization: Catholic University – sequence: 3 givenname: Kailash P. orcidid: 0000-0001-8185-286X surname: Bhatia fullname: Bhatia, Kailash P. organization: University College London Institute of Neurology – sequence: 4 givenname: Francisco surname: Cardoso fullname: Cardoso, Francisco organization: Movement Disorders Clinic, Neurology Service, UFMG – sequence: 5 givenname: Gustavo surname: Da Prat fullname: Da Prat, Gustavo organization: University DelSalvadore – sequence: 6 givenname: Tom J. surname: de Koning fullname: de Koning, Tom J. organization: Pediatrics and Neurology, University Medical Center Groningen, University of Groningen – sequence: 7 givenname: Alberto J. orcidid: 0000-0002-3389-136X surname: Espay fullname: Espay, Alberto J. organization: University of Cincinnati – sequence: 8 givenname: Victor surname: Fung fullname: Fung, Victor organization: Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney – sequence: 9 givenname: Pedro J. surname: Garcia‐Ruiz fullname: Garcia‐Ruiz, Pedro J. organization: Fundacion Jimenez Diaz – sequence: 10 givenname: Oscar surname: Gershanik fullname: Gershanik, Oscar organization: Favaloro Foundation University Hospital – sequence: 11 givenname: Joseph surname: Jankovic fullname: Jankovic, Joseph organization: Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine – sequence: 12 givenname: Ryuji surname: Kaji fullname: Kaji, Ryuji organization: Tokushima University Graduate School of Medicine – sequence: 13 givenname: Katya surname: Kotschet fullname: Kotschet, Katya organization: Clinical Neurosciences, St. Vincent's Health – sequence: 14 givenname: Connie surname: Marras fullname: Marras, Connie organization: The Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto – sequence: 15 givenname: Janis M. surname: Miyasaki fullname: Miyasaki, Janis M. organization: University of Alberta – sequence: 16 givenname: Francesca surname: Morgante fullname: Morgante, Francesca organization: University of Messina – sequence: 17 givenname: Alexander surname: Munchau fullname: Munchau, Alexander organization: Institute of Neurogenetics, University of Lübeck – sequence: 18 givenname: Pramod Kumar surname: Pal fullname: Pal, Pramod Kumar organization: National Institute of Mental Health & Neuroscience – sequence: 19 givenname: Maria C. orcidid: 0000-0002-6041-9941 surname: Rodriguez Oroz fullname: Rodriguez Oroz, Maria C. organization: Network Center for Biomedical Research in Neurodegenerative Diseases – sequence: 20 givenname: Mayela surname: Rodríguez‐Violante fullname: Rodríguez‐Violante, Mayela organization: Movement Disorders Clinic, National Institute of Neurology and Neurosurgery – sequence: 21 givenname: Ludger surname: Schöls fullname: Schöls, Ludger organization: German Center for Neurodegenerative Diseases – sequence: 22 givenname: Maria orcidid: 0000-0003-1668-9925 surname: Stamelou fullname: Stamelou, Maria organization: Parkinson's Disease and Other Movement Disorders Department, HYGEIA Hospital – sequence: 23 givenname: Marina surname: Tijssen fullname: Tijssen, Marina organization: University Medical Center Groningen, University of Groningen – sequence: 24 givenname: Claudia surname: Uribe Roca fullname: Uribe Roca, Claudia organization: British Hospital of Buenos Aires – sequence: 25 givenname: Andres surname: de la Cerda fullname: de la Cerda, Andres organization: CINSAN, Universidad de los Andes – sequence: 26 givenname: Emilia M. surname: Gatto fullname: Gatto, Emilia M. email: emiliamgatto@gmail.com organization: Affiliated University of Buenos Aires and University DelSalvadore |
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| Snippet | 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... 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... |
| SourceID | pubmedcentral proquest crossref pubmed wiley |
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| StartPage | 21 |
| SubjectTerms | Clinical trials Clinical Trials as Topic - methods Dihydroxyphenylalanine Dystonia experimental therapeutics Humans inherited disease Movement disorders Movement Disorders - genetics Movement Disorders - therapy orphan disease Parkinson's disease Rare disease Rare Diseases - genetics Rare Diseases - therapy treatment Treatment Outcome Wilson's disease |
| Title | Treatable inherited rare movement disorders |
| URI | https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fmds.27140 https://www.ncbi.nlm.nih.gov/pubmed/28861905 https://www.proquest.com/docview/1986856537 https://search.proquest.com/docview/1936158285 https://pubmed.ncbi.nlm.nih.gov/PMC5921079 |
| Volume | 33 |
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