eprintid: 10032311 rev_number: 41 eprint_status: archive userid: 608 dir: disk0/10/03/23/11 datestamp: 2017-11-08 10:53:28 lastmod: 2021-09-17 22:14:43 status_changed: 2018-03-13 11:53:40 type: article metadata_visibility: show creators_name: Jinnah, HA creators_name: Albanese, A creators_name: Bhatia, KP creators_name: Cardoso, F creators_name: Da Prat, G creators_name: de Koning, TJ creators_name: Espay, AJ creators_name: Fung, V creators_name: Garcia-Ruiz, PJ creators_name: Gershanik, O creators_name: Jankovic, J creators_name: Kaji, R creators_name: Kotschet, K creators_name: Marras, C creators_name: Miyasaki, JM creators_name: Morgante, F creators_name: Munchau, A creators_name: Pal, PK creators_name: Rodriguez Oroz, MC creators_name: Rodriguez-Violante, M creators_name: Schoels, L creators_name: Stamelou, M creators_name: Tijssen, M creators_name: Uribe Roca, C creators_name: de la Cerda, A creators_name: Gatto, EM title: Treatable Inherited Rare Movement Disorders ispublished: pub divisions: UCL divisions: B02 divisions: C07 divisions: D07 divisions: F84 divisions: F85 keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, Rare disease, orphan disease, inherited disease, treatment, experimental therapeutics, GLUT1 DEFICIENCY SYNDROME, SYRUP-URINE-DISEASE, ACIDURIA TYPE-I, ATAXIA-TELANGIECTASIA, DIAGNOSTIC-APPROACH, CLINICAL-TRIALS, HYDROXYLASE DEFICIENCY, NEUROLOGICAL DISORDERS, REDUCTASE DEFICIENCY, METABOLIC DISEASE note: This version is the version of record. For information on re-use, please refer to the publisher’s terms and conditions. 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. date: 2017-09-01 date_type: published publisher: WILEY official_url: https://doi.org/10.1002/mds.27140 full_text_type: pub language: eng article_type_text: Review verified: verified_manual elements_id: 1418005 doi: 10.1002/mds.27140 lyricists_name: Bhatia, Kailash lyricists_name: Stamelou, Maria lyricists_id: KPBHA96 lyricists_id: MSTAM90 actors_name: Stacey, Thomas actors_id: TSSTA20 actors_role: owner full_text_status: restricted publication: Movement Disorders volume: 33 number: 1 pagerange: 21-35 pages: 15 issn: 1531-8257 citation: Jinnah, HA; Albanese, A; Bhatia, KP; Cardoso, F; Da Prat, G; de Koning, TJ; Espay, AJ; ... Gatto, EM; + view all <#> Jinnah, HA; Albanese, A; Bhatia, KP; Cardoso, F; Da Prat, G; de Koning, TJ; Espay, AJ; Fung, V; Garcia-Ruiz, PJ; Gershanik, O; Jankovic, J; Kaji, R; Kotschet, K; Marras, C; Miyasaki, JM; Morgante, F; Munchau, A; Pal, PK; Rodriguez Oroz, MC; Rodriguez-Violante, M; Schoels, L; Stamelou, M; Tijssen, M; Uribe Roca, C; de la Cerda, A; Gatto, EM; - view fewer <#> (2017) Treatable Inherited Rare Movement Disorders. Movement Disorders , 33 (1) pp. 21-35. 10.1002/mds.27140 <https://doi.org/10.1002/mds.27140>. document_url: https://discovery.ucl.ac.uk/id/eprint/10032311/1/Bhatia%20Jinnah_et_al-2018-Movement_Disorders.pdf