U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dystonia 21(DYT21)

MedGen UID:
482866
Concept ID:
C3281236
Disease or Syndrome
Synonym: DYT21
SNOMED CT: Primary dystonia 21 (716664003); Primary dystonia DYT21 type (716664003)
 
Monarch Initiative: MONDO:0013813
OMIM®: 614588
Orphanet: ORPHA306734

Definition

Dystonia-21 (DYT21) is an autosomal dominant form of pure torsion dystonia, a movement disorder characterized by sustained muscle contractions causing twisting and repetitive movements and abnormal postures (summary by Norgren et al., 2011). [from OMIM]

Clinical features

From HPO
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Laryngeal dystonia
MedGen UID:
409603
Concept ID:
C1963946
Disease or Syndrome
A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.
Blepharospasm
MedGen UID:
599
Concept ID:
C0005747
Disease or Syndrome
A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDystonia 21
Follow this link to review classifications for Dystonia 21 in Orphanet.

Professional guidelines

PubMed

Fertl E, Schnider P, Schneider B, Auff E
Eur Neurol 2000;44(3):139-43. doi: 10.1159/000008222. PMID: 11053960

Recent clinical studies

Etiology

Zolin A, Broner SW, Yoo A, Guan I, Lakhani S, Trabilsy M, Klebanoff L, Vo M, Sarva H
Headache 2023 Feb;63(2):255-263. doi: 10.1111/head.14467. PMID: 36794299
Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders
Mov Disord 2022 May;37(5):905-935. Epub 2022 Apr 28 doi: 10.1002/mds.28982. PMID: 35481685
Rissardo JP, Caprara ALF, Durante Í
Prague Med Rep 2021;122(3):140-180. doi: 10.14712/23362936.2021.14. PMID: 34606429
Khosravani S, Chen G, Ozelius LJ, Simonyan K
Neurobiol Dis 2021 Jan;148:105223. Epub 2020 Dec 11 doi: 10.1016/j.nbd.2020.105223. PMID: 33316367Free PMC Article
Perlman SL
Handb Clin Neurol 2011;100:113-40. doi: 10.1016/B978-0-444-52014-2.00006-9. PMID: 21496573

Diagnosis

Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free PMC Article
Bennett K, Diamond C, Hoeritzauer I, Gardiner P, McWhirter L, Carson A, Stone J
Clin Med (Lond) 2021 Jan;21(1):28-36. doi: 10.7861/clinmed.2020-0987. PMID: 33479065Free PMC Article
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Ismail FY, Fatemi A, Johnston MV
Eur J Paediatr Neurol 2017 Jan;21(1):23-48. Epub 2016 Aug 9 doi: 10.1016/j.ejpn.2016.07.007. PMID: 27567276
Perlman SL
Handb Clin Neurol 2011;100:113-40. doi: 10.1016/B978-0-444-52014-2.00006-9. PMID: 21496573

Therapy

Zolin A, Broner SW, Yoo A, Guan I, Lakhani S, Trabilsy M, Klebanoff L, Vo M, Sarva H
Headache 2023 Feb;63(2):255-263. doi: 10.1111/head.14467. PMID: 36794299
Rissardo JP, Fornari Caprara AL
Neurol India 2021 Nov-Dec;69(6):1524-1538. doi: 10.4103/0028-3886.333440. PMID: 34979637
Rissardo JP, Caprara ALF, Durante Í
Prague Med Rep 2021;122(3):140-180. doi: 10.14712/23362936.2021.14. PMID: 34606429
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
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, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, Gatto EM; International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders
Mov Disord 2018 Jan;33(1):21-35. Epub 2017 Sep 1 doi: 10.1002/mds.27140. PMID: 28861905Free PMC Article

Prognosis

Ramírez-Ruiz RD, Quintillá M, Sandoval M, León L, Costa JM, Quer M
Acta Otorrinolaringol Esp (Engl Ed) 2024 May-Jun;75(3):148-154. Epub 2023 Oct 30 doi: 10.1016/j.otoeng.2023.07.001. PMID: 37913988
Bohnen NI, Yarnall AJ, Weil RS, Moro E, Moehle MS, Borghammer P, Bedard MA, Albin RL
Lancet Neurol 2022 Apr;21(4):381-392. Epub 2022 Feb 4 doi: 10.1016/S1474-4422(21)00377-X. PMID: 35131038Free PMC Article
Khosravani S, Chen G, Ozelius LJ, Simonyan K
Neurobiol Dis 2021 Jan;148:105223. Epub 2020 Dec 11 doi: 10.1016/j.nbd.2020.105223. PMID: 33316367Free PMC Article
Wijemanne S, Jankovic J
Neurology 2007 Oct 16;69(16):1585-94. doi: 10.1212/01.wnl.0000277699.48155.39. PMID: 17938368
Kang UJ, Burke RE, Fahn S
Adv Neurol 1988;50:415-29. PMID: 3400500

Clinical prediction guides

Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A
Brain 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. PMID: 36729635
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free PMC Article
Bohnen NI, Yarnall AJ, Weil RS, Moro E, Moehle MS, Borghammer P, Bedard MA, Albin RL
Lancet Neurol 2022 Apr;21(4):381-392. Epub 2022 Feb 4 doi: 10.1016/S1474-4422(21)00377-X. PMID: 35131038Free PMC Article
Khosravani S, Chen G, Ozelius LJ, Simonyan K
Neurobiol Dis 2021 Jan;148:105223. Epub 2020 Dec 11 doi: 10.1016/j.nbd.2020.105223. PMID: 33316367Free PMC Article
Stover NP, Watts RL
Semin Neurol 2001;21(1):49-58. doi: 10.1055/s-2001-13119. PMID: 11346025

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
Corp DT, Greenwood CJ, Morrison-Ham J, Pullinen J, McDowall GM, Younger EFP, Jinnah HA, Fox MD, Joutsa J
Neurology 2022 Nov 1;99(18):e1957-e1967. Epub 2022 Aug 17 doi: 10.1212/WNL.0000000000201042. PMID: 35977840Free PMC Article
Lidstone SC, Costa-Parke M, Robinson EJ, Ercoli T, Stone J; FMD GAP Study Group
J Neurol Neurosurg Psychiatry 2022 Jun;93(6):609-616. Epub 2022 Feb 25 doi: 10.1136/jnnp-2021-328462. PMID: 35217516
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
Siokas V, Dardiotis E, Tsironi EE, Tsivgoulis G, Rikos D, Sokratous M, Koutsias S, Paterakis K, Deretzi G, Hadjigeorgiou GM
PLoS One 2017;12(1):e0169934. Epub 2017 Jan 12 doi: 10.1371/journal.pone.0169934. PMID: 28081261Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...