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Dystonia

MedGen UID:
140732
Concept ID:
C0393593
Disease or Syndrome
Synonyms: Dystonia Disorder; Dystonia Disorders; Dystonic Disorder; Dystonic Disorders
SNOMED CT: Dystonia (15802004); Dystonia disorder (15802004)

Definition

A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. [from NCI]

Professional guidelines

PubMed

Tater P, Pandey S
Neurol India 2021 Mar-Apr;69(2):272-283. doi: 10.4103/0028-3886.314574. PMID: 33904435
Bhatia KP, Bain P, Bajaj N, Elble RJ, Hallett M, Louis ED, Raethjen J, Stamelou M, Testa CM, Deuschl G; Tremor Task Force of the International Parkinson and Movement Disorder Society
Mov Disord 2018 Jan;33(1):75-87. Epub 2017 Nov 30 doi: 10.1002/mds.27121. PMID: 29193359Free PMC Article
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

Thomsen M, Lange LM, Zech M, Lohmann K
Annu Rev Pathol 2024 Jan 24;19:99-131. Epub 2023 Sep 22 doi: 10.1146/annurev-pathmechdis-051122-110756. PMID: 37738511
Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2021;11:54. Epub 2021 Dec 21 doi: 10.5334/tohm.670. PMID: 35036047Free PMC Article
Grütz K, Klein C
J Neural Transm (Vienna) 2021 Apr;128(4):395-404. Epub 2021 Feb 19 doi: 10.1007/s00702-021-02314-2. PMID: 33604773Free PMC Article
Weissbach A, Saranza G, Domingo A
J Neural Transm (Vienna) 2021 Apr;128(4):417-429. Epub 2020 Oct 24 doi: 10.1007/s00702-020-02269-w. PMID: 33099685
De Pablo-Fernandez E, Warner TT
Br Med Bull 2017 Sep 1;123(1):91-102. doi: 10.1093/bmb/ldx019. PMID: 28910989

Diagnosis

Sadnicka A, Meppelink AM, Kalinowski A, Oakeshott P, van den Dool J
BMJ 2022 Apr 11;377:e062659. doi: 10.1136/bmj-2020-062659. PMID: 35410890Free PMC Article
Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2021;11:54. Epub 2021 Dec 21 doi: 10.5334/tohm.670. PMID: 35036047Free PMC Article
Grütz K, Klein C
J Neural Transm (Vienna) 2021 Apr;128(4):395-404. Epub 2021 Feb 19 doi: 10.1007/s00702-021-02314-2. PMID: 33604773Free PMC Article
De Pablo-Fernandez E, Warner TT
Br Med Bull 2017 Sep 1;123(1):91-102. doi: 10.1093/bmb/ldx019. PMID: 28910989
Schmerler DA, Espay AJ
Handb Clin Neurol 2016;139:235-245. doi: 10.1016/B978-0-12-801772-2.00020-5. PMID: 27719842

Therapy

Zakin E, Simpson DM
Toxins (Basel) 2021 Dec 14;13(12) doi: 10.3390/toxins13120899. PMID: 34941736Free PMC Article
Solish N, Carruthers J, Kaufman J, Rubio RG, Gross TM, Gallagher CJ
Drugs 2021 Dec;81(18):2091-2101. Epub 2021 Nov 17 doi: 10.1007/s40265-021-01631-w. PMID: 34787840Free PMC Article
Serrera-Figallo MA, Ruiz-de-León-Hernández G, Torres-Lagares D, Castro-Araya A, Torres-Ferrerosa O, Hernández-Pacheco E, Gutierrez-Perez JL
Toxins (Basel) 2020 Feb 11;12(2) doi: 10.3390/toxins12020112. PMID: 32053883Free PMC Article
Monheit GD, Pickett A
Aesthet Surg J 2017 May 1;37(suppl_1):S4-S11. doi: 10.1093/asj/sjw284. PMID: 28388718Free PMC Article
Fox MD, Alterman RL
JAMA Neurol 2015 Jun;72(6):713-9. doi: 10.1001/jamaneurol.2015.51. PMID: 25894231Free PMC Article

Prognosis

Horisawa S, Fukui A, Takeda N, Kawamata T, Taira T
Ann Clin Transl Neurol 2021 Apr;8(4):857-865. Epub 2021 Mar 15 doi: 10.1002/acn3.51333. PMID: 33720521Free PMC Article
Chang X, Zhang J, Jiang Y, Wang J, Wu Y
CNS Neurosci Ther 2020 Jul;26(7):754-761. Epub 2020 Feb 11 doi: 10.1111/cns.13294. PMID: 32043823Free PMC Article
Blumetti FC, Wu JCN, Barzi F, Axt MW, Waugh MC, Selber P
J Pediatr Orthop 2019 Apr;39(4):209-216. doi: 10.1097/BPO.0000000000000919. PMID: 30839486
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Hartmann A, Pogarell O, Oertel WH
J Neurol 1998 Aug;245(8):511-8. doi: 10.1007/s004150050235. PMID: 9747914

Clinical prediction guides

Grigoriou S, Espa E, Odin P, Timpka J, von Grothusen G, Jakobsson A, Cenci MA
Neuropharmacology 2023 Oct 1;237:109630. Epub 2023 Jun 12 doi: 10.1016/j.neuropharm.2023.109630. PMID: 37315840
Horisawa S, Fukui A, Takeda N, Kawamata T, Taira T
Ann Clin Transl Neurol 2021 Apr;8(4):857-865. Epub 2021 Mar 15 doi: 10.1002/acn3.51333. PMID: 33720521Free PMC Article
Centen LM, Oterdoom DLM, Tijssen MAJ, Lesman-Leegte I, van Egmond ME, van Dijk JMC
Mov Disord 2021 Mar;36(3):547-557. Epub 2020 Nov 20 doi: 10.1002/mds.28384. PMID: 33215750Free PMC Article
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article

Recent systematic reviews

Bilbao A, Spanagel R
BMC Med 2022 Aug 19;20(1):259. doi: 10.1186/s12916-022-02459-1. PMID: 35982439Free PMC Article
Pick S, Anderson DG, Asadi-Pooya AA, Aybek S, Baslet G, Bloem BR, Bradley-Westguard A, Brown RJ, Carson AJ, Chalder T, Damianova M, David AS, Edwards MJ, Epstein SA, Espay AJ, Garcin B, Goldstein LH, Hallett M, Jankovic J, Joyce EM, Kanaan RA, Keynejad RC, Kozlowska K, LaFaver K, LaFrance WC Jr, Lang AE, Lehn A, Lidstone S, Maurer CW, Mildon B, Morgante F, Myers L, Nicholson C, Nielsen G, Perez DL, Popkirov S, Reuber M, Rommelfanger KS, Schwingenshuh P, Serranova T, Shotbolt P, Stebbins GT, Stone J, Tijssen MA, Tinazzi M, Nicholson TR
J Neurol Neurosurg Psychiatry 2020 Jun;91(6):638-649. Epub 2020 Feb 28 doi: 10.1136/jnnp-2019-322180. PMID: 32111637Free PMC Article
Cohen EE, LaMonte SJ, Erb NL, Beckman KL, Sadeghi N, Hutcheson KA, Stubblefield MD, Abbott DM, Fisher PS, Stein KD, Lyman GH, Pratt-Chapman ML
CA Cancer J Clin 2016 May;66(3):203-39. Epub 2016 Mar 22 doi: 10.3322/caac.21343. PMID: 27002678
Snaith A, Wade D
BMJ Clin Evid 2011 Jun 13;2011 PMID: 21663705Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article

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