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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
Safarpour D, Jabbari B
Handb Clin Neurol 2023;196:539-555. doi: 10.1016/B978-0-323-98817-9.00003-X. PMID: 37620089
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
Jinnah HA
Neurol Clin 2020 May;38(2):325-348. Epub 2020 Mar 2 doi: 10.1016/j.ncl.2020.01.003. PMID: 32279713Free PMC Article
Jinnah HA, Factor SA
Neurol Clin 2015 Feb;33(1):77-100. doi: 10.1016/j.ncl.2014.09.002. PMID: 25432724Free PMC Article

Diagnosis

Stephen CD
Continuum (Minneap Minn) 2022 Oct 1;28(5):1435-1475. doi: 10.1212/CON.0000000000001159. PMID: 36222773Free PMC Article
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
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
Batla A
Neurol India 2018 Mar-Apr;66(Supplement):S48-S58. doi: 10.4103/0028-3886.226439. PMID: 29503327
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK
Mov Disord 2013 Jun 15;28(7):863-73. Epub 2013 May 6 doi: 10.1002/mds.25475. PMID: 23649720Free PMC Article

Therapy

Bohn E, Goren K, Switzer L, Falck-Ytter Y, Fehlings D
Dev Med Child Neurol 2021 Sep;63(9):1038-1050. Epub 2021 Mar 27 doi: 10.1111/dmcn.14874. PMID: 33772789Free PMC Article
Ruberto AJ, Sivilotti MLA, Forrester S, Hall AK, Crawford FM, Day AG
Ann Emerg Med 2021 Jun;77(6):613-619. Epub 2020 Nov 5 doi: 10.1016/j.annemergmed.2020.08.021. PMID: 33160719
Perlman SL
Neurotherapeutics 2020 Oct;17(4):1660-1664. Epub 2020 Oct 6 doi: 10.1007/s13311-020-00941-3. PMID: 33021724Free 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
Lee DJ, Lozano CS, Dallapiazza RF, Lozano AM
J Neurosurg 2019 Aug 1;131(2):333-342. doi: 10.3171/2019.4.JNS181761. PMID: 31370011

Prognosis

Grijalvo-Perez AM, Litvan I
Semin Neurol 2014 Apr;34(2):160-73. Epub 2014 Jun 25 doi: 10.1055/s-0034-1381734. PMID: 24963675
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Hoppmann RA, Reid RR
Curr Opin Rheumatol 1995 Mar;7(2):147-50. doi: 10.1097/00002281-199503000-00014. PMID: 7766496
Kempster PA, Brenton DP, Gale AN, Stern GM
J Neurol Neurosurg Psychiatry 1988 Jun;51(6):859-62. doi: 10.1136/jnnp.51.6.859. PMID: 3404194Free PMC Article
Wachtel RC, Batshaw ML, Eldridge R, Jankel W, Cataldo M
Johns Hopkins Med J 1982 Dec;151(6):355-61. PMID: 7176296

Clinical prediction guides

Comella CL, Jankovic J, Hauser RA, Patel AT, Banach MD, Ehler E, Vitarella D, Rubio RG, Gross TM; ASPEN-1 Study Group
Neurology 2024 Feb 27;102(4):e208091. Epub 2024 Jan 31 doi: 10.1212/WNL.0000000000208091. PMID: 38295339Free 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
De Verdal M, Renard D, Collombier L, Castelnovo G
Rev Neurol (Paris) 2017 Dec;173(10):645-649. Epub 2017 Jun 16 doi: 10.1016/j.neurol.2017.05.006. PMID: 28629634
Edwards MJ, Talelli P, Rothwell JC
Lancet Neurol 2008 Sep;7(9):827-40. doi: 10.1016/S1474-4422(08)70190-X. PMID: 18703005
Albanese A
Parkinsonism Relat Disord 2007;13 Suppl 3:S356-61. doi: 10.1016/S1353-8020(08)70030-0. PMID: 18267264

Recent systematic reviews

Dai S, Chen H, Luo T
BMC Pregnancy Childbirth 2023 Oct 28;23(1):761. doi: 10.1186/s12884-023-06059-6. PMID: 37898733Free PMC Article
Loudovici-Krug D, Derlien S, Best N, Günther A
Toxins (Basel) 2022 Nov 11;14(11) doi: 10.3390/toxins14110784. PMID: 36422957Free PMC Article
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

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