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Torsion dystonia 7(DYT7)

MedGen UID:
355560
Concept ID:
C1865818
Disease or Syndrome
Synonyms: Dystonia 7; Torsion dystonia, focal adult-onset
 
Monarch Initiative: MONDO:0011200
OMIM®: 602124

Definition

Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by Leube et al., 1996). [from OMIM]

Clinical features

From HPO
Torsion dystonia
MedGen UID:
3941
Concept ID:
C0013423
Disease or Syndrome
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
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).
Writer cramp
MedGen UID:
57821
Concept ID:
C0154676
Disease or Syndrome
A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.
Clumsiness
MedGen UID:
66690
Concept ID:
C0233844
Sign or Symptom
Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
Hand tremor
MedGen UID:
68689
Concept ID:
C0239842
Finding
An unintentional, oscillating to-and-fro muscle movement affecting the hand.
Oromandibular dystonia
MedGen UID:
473560
Concept ID:
C2242577
Sign or Symptom
A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Abnormal increase in muscle size and mass not due to training.
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Mental or Behavioral Dysfunction
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
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.

Professional guidelines

PubMed

Delnooz CC, Veugen LC, Pasman JW, Lapatki BG, van Dijk JP, van de Warrenburg BP
Eur J Neurol 2014 Dec;21(12):1486-e98. Epub 2014 Jul 24 doi: 10.1111/ene.12517. PMID: 25060697
Kimmich O, Bradley D, Whelan R, Mulrooney N, Reilly RB, Hutchinson S, O'Riordan S, Hutchinson M
Brain 2011 Sep;134(Pt 9):2656-63. Epub 2011 Aug 11 doi: 10.1093/brain/awr194. PMID: 21840890

Recent clinical studies

Etiology

DeSimone JC, Archer DB, Vaillancourt DE, Wagle Shukla A
Brain 2019 Jun 1;142(6):1644-1659. doi: 10.1093/brain/awz085. PMID: 30957839Free PMC Article
Yang J, Shao N, Song W, Wei Q, Ou R, Wu Y, Shang HF
Brain Behav 2017 Feb;7(2):e00592. Epub 2016 Dec 18 doi: 10.1002/brb3.592. PMID: 28239516Free PMC Article
Duarte GS, Castelão M, Rodrigues FB, Marques RE, Ferreira J, Sampaio C, Moore AP, Costa J
Cochrane Database Syst Rev 2016 Oct 26;10(10):CD004314. doi: 10.1002/14651858.CD004314.pub3. PMID: 27782297Free PMC Article
Chung M, Huh R
Acta Neurochir (Wien) 2016 Jan;158(1):171-80; discussion 180. Epub 2015 Nov 27 doi: 10.1007/s00701-015-2646-7. PMID: 26611690
Molloy A, Kimmich O, Williams L, Butler JS, Byrne N, Molloy F, Moore H, Healy DG, Lynch T, Edwards MJ, Walsh C, Reilly RB, O'Riordan S, Hutchinson M
J Neurol Neurosurg Psychiatry 2015 Mar;86(3):331-5. Epub 2014 Jun 24 doi: 10.1136/jnnp-2014-307699. PMID: 24963124

Diagnosis

DeSimone JC, Archer DB, Vaillancourt DE, Wagle Shukla A
Brain 2019 Jun 1;142(6):1644-1659. doi: 10.1093/brain/awz085. PMID: 30957839Free PMC Article
Porcacchia P, Palomar FJ, Cáceres-Redondo MT, Huertas-Fernández I, Martín-Rodríguez JF, Carrillo F, Koch G, Mir P
Brain Stimul 2014 Sep-Oct;7(5):650-7. Epub 2014 Jun 23 doi: 10.1016/j.brs.2014.06.007. PMID: 25041687
Katschnig-Winter P, Schwingenschuh P, Davare M, Sadnicka A, Schmidt R, Rothwell JC, Bhatia KP, Edwards MJ
J Clin Neurosci 2014 Jun;21(6):934-8. Epub 2013 Oct 26 doi: 10.1016/j.jocn.2013.08.019. PMID: 24411324
Winter P, Kamm C, Biskup S, Köhler A, Leube B, Auburger G, Gasser T, Benecke R, Müller U
Mov Disord 2012 Dec;27(14):1819-21. Epub 2012 Oct 31 doi: 10.1002/mds.25219. PMID: 23115116
Bradley D, Whelan R, Kimmich O, O'Riordan S, Mulrooney N, Brady P, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M
J Neurol 2012 Jan;259(1):77-82. Epub 2011 Jun 8 doi: 10.1007/s00415-011-6125-7. PMID: 21656045

Therapy

Vilanova TFDD, Borges V, Ferraz HB
Clinics (Sao Paulo) 2019 Apr 1;74:e776. doi: 10.6061/clinics/2019/e776. PMID: 30942281Free PMC Article
van den Dool J, Visser B, Koelman JH, Engelbert RH, Tijssen MA
Arch Phys Med Rehabil 2019 Aug;100(8):1417-1425. Epub 2019 Feb 20 doi: 10.1016/j.apmr.2019.01.013. PMID: 30796919
Duarte GS, Castelão M, Rodrigues FB, Marques RE, Ferreira J, Sampaio C, Moore AP, Costa J
Cochrane Database Syst Rev 2016 Oct 26;10(10):CD004314. doi: 10.1002/14651858.CD004314.pub3. PMID: 27782297Free PMC Article
Eichenseer SR, Stebbins GT, Comella CL
Parkinsonism Relat Disord 2014 Apr;20(4):405-8. Epub 2014 Jan 15 doi: 10.1016/j.parkreldis.2014.01.004. PMID: 24486141
Katschnig-Winter P, Schwingenschuh P, Davare M, Sadnicka A, Schmidt R, Rothwell JC, Bhatia KP, Edwards MJ
J Clin Neurosci 2014 Jun;21(6):934-8. Epub 2013 Oct 26 doi: 10.1016/j.jocn.2013.08.019. PMID: 24411324

Prognosis

Wang X, Mao Z, Ling Z, Yu X
Clin Neurol Neurosurg 2020 May;192:105720. Epub 2020 Feb 4 doi: 10.1016/j.clineuro.2020.105720. PMID: 32036265
Chung M, Huh R
Acta Neurochir (Wien) 2016 Jan;158(1):171-80; discussion 180. Epub 2015 Nov 27 doi: 10.1007/s00701-015-2646-7. PMID: 26611690
Dinkelbach L, Mueller J, Poewe W, Delazer M, Elben S, Wolters A, Karner E, Wittstock M, Benecke R, Schnitzler A, Volkmann J, Südmeyer M
Parkinsonism Relat Disord 2015 Aug;21(8):976-80. Epub 2015 Jun 4 doi: 10.1016/j.parkreldis.2015.06.002. PMID: 26074391
Filip P, Lungu OV, Shaw DJ, Kasparek T, Bareš M
Neural Plast 2013;2013:908741. Epub 2013 Oct 1 doi: 10.1155/2013/908741. PMID: 24198973Free PMC Article
Witt JL, Moro E, Ash RS, Hamani C, Starr PA, Lozano AM, Hodaie M, Poon YY, Markun LC, Ostrem JL
Mov Disord 2013 Sep;28(10):1451-5. Epub 2013 Jun 20 doi: 10.1002/mds.25560. PMID: 23787946

Clinical prediction guides

Ni Z, Kim SJ, Phielipp N, Ghosh S, Udupa K, Gunraj CA, Saha U, Hodaie M, Kalia SK, Lozano AM, Lee DJ, Moro E, Fasano A, Hallett M, Lang AE, Chen R
Ann Neurol 2018 Feb;83(2):352-362. doi: 10.1002/ana.25156. PMID: 29369401
Yang J, Shao N, Song W, Wei Q, Ou R, Wu Y, Shang HF
Brain Behav 2017 Feb;7(2):e00592. Epub 2016 Dec 18 doi: 10.1002/brb3.592. PMID: 28239516Free PMC Article
Sadnicka A, Patani B, Saifee TA, Kassavetis P, Pareés I, Korlipara P, Bhatia KP, Rothwell JC, Galea JM, Edwards MJ
Cerebellum 2014 Oct;13(5):558-67. doi: 10.1007/s12311-014-0569-0. PMID: 24872202Free PMC Article
Katschnig-Winter P, Schwingenschuh P, Davare M, Sadnicka A, Schmidt R, Rothwell JC, Bhatia KP, Edwards MJ
J Clin Neurosci 2014 Jun;21(6):934-8. Epub 2013 Oct 26 doi: 10.1016/j.jocn.2013.08.019. PMID: 24411324
Kimmich O, Bradley D, Whelan R, Mulrooney N, Reilly RB, Hutchinson S, O'Riordan S, Hutchinson M
Brain 2011 Sep;134(Pt 9):2656-63. Epub 2011 Aug 11 doi: 10.1093/brain/awr194. PMID: 21840890

Recent systematic reviews

Duarte GS, Castelão M, Rodrigues FB, Marques RE, Ferreira J, Sampaio C, Moore AP, Costa J
Cochrane Database Syst Rev 2016 Oct 26;10(10):CD004314. doi: 10.1002/14651858.CD004314.pub3. PMID: 27782297Free PMC Article

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