Treatable Inherited Rare Movement Disorders

• Type of Material: Article
• Authors: Hyder Jinnah, Emory University; Alberto Albanese, Humanitas Research Hospital; Kailash P. Bhatia, University College London; Francisco Cardoso, Federal University of Minas Gerais; Gustavo Da Prat, Affiliated Univ Buenos Aires; Tom J. de Koning, University of Groningen; Alberto J. Espay, University of Cincinnati; Victor Fung, University of Sydney; Pedro J. Garcia-Ruiz, Fundacion Jimenez Diaz; Oscar Gershanik, Fundacion Favaloro Hospital Universitario; Joseph Jankovic, Baylor College of Medicine; Ryuji Kaji, Tokushima University; Katya Kotschet, St Vincents Health; Connie Marras, University of Toronto; Janis M. Miyasaki, University of Alberta; Francesca Morgante, University of Messina; Alexander Munchau, University of Lubeck; Pramod Kumar Pal, National Institute of Mental Health and Neuro Sciences; Maria C. Rodriguez Oroz, University Hospital Donostia; Mayela Rodriguez-Violante, National Institute of Neurology and Neurosurgery; Ludger Schoels, University of Tubingen; Maria Stamelou, Philipps University Marburg; Marina Tijssen, University of Groningen; Claudia Uribe Roca, British Hospital of Buenos Aires; Andres de la Cerda, University of the Andes; Emilia M. Gatto, Affiliated University of Buenos Aires
• Language: English
• Date: 2018-01-01
• Publisher: Wiley
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2017 International Parkinson and Movement Disorder Society
• Final Published Version (URL): http://dx.doi.org/10.1002/mds.27140
• Title of Journal or Parent Work: Movement Disorders
• ISSN: 0885-3185
• Volume: 33
• Issue: 1
• Start Page: 21
• End Page: 35
• Keywords: CLINICAL-TRIALS; GLUT1 DEFICIENCY SYNDROME; METABOLIC DISEASE; Rare disease; orphan disease; inherited disease; Neurosciences & Neurology; HYDROXYLASE DEFICIENCY; Life Sciences & Biomedicine; REDUCTASE DEFICIENCY; experimental therapeutics; DIAGNOSTIC-APPROACH; treatment; Science & Technology; ACIDURIA TYPE-I; ATAXIA-TELANGIECTASIA; Clinical Neurology; SYRUP-URINE-DISEASE; NEUROLOGICAL DISORDERS
• Research Categories: Biology, Neuroscience; Biology, Genetics

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.