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Torsion dystonia

MedGen UID:
3941
Concept ID:
C0013423
Disease or Syndrome
Synonyms: Primary torsion dystonia
SNOMED CT: Torsion dystonia (431034009); Primary torsion dystonia (22451001); Idiopathic torsion dystonia (22451001); Dystonia deformans progressiva (22451001); Dystonia musculorum deformans (22451001); Schwalbe disease (22451001); Ziehen-Oppenheim disease (22451001)
 

Definition

A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078) [from MeSH]

Recent clinical studies

Etiology

Groen JL, Ritz K, Tanck MW, van de Warrenburg BP, van Hilten JJ, Aramideh M, Baas F, Tijssen MA
Mov Disord 2013 Jun;28(6):827-31. Epub 2013 Mar 4 doi: 10.1002/mds.25381. [Epub ahead of print] PMID: 23460578
Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, Boon AJ, Klein C, Koelman JH, Langeveld TP, Baas F, Tijssen MA
J Neurol Neurosurg Psychiatry 2012 Oct;83(10):1006-11. Epub 2012 Jul 8 doi: 10.1136/jnnp-2012-302729. [Epub ahead of print] PMID: 22773857
Beis JM, Bertoni N, Isner-Horobeti ME, Kandel M, Mainard D, Martinet N, Chapelain LL, Paysant J
NeuroRehabilitation 2012;30(3):235-7. doi: 10.3233/NRE-2012-0750. PMID: 22635129
Norgren N, Mattson E, Forsgren L, Holmberg M
Neurogenetics 2011 May;12(2):137-43. Epub 2011 Feb 8 doi: 10.1007/s10048-011-0274-9. [Epub ahead of print] PMID: 21301909
Bradley D, Whelan R, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M
Brain 2009 Sep;132(Pt 9):2327-35. Epub 2009 Jun 12 doi: 10.1093/brain/awp156. [Epub ahead of print] PMID: 19525326

Diagnosis

Beis JM, Bertoni N, Isner-Horobeti ME, Kandel M, Mainard D, Martinet N, Chapelain LL, Paysant J
NeuroRehabilitation 2012;30(3):235-7. doi: 10.3233/NRE-2012-0750. PMID: 22635129
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. [Epub ahead of print] PMID: 21656045
Chen P, Burdette AJ, Porter JC, Ricketts JC, Fox SA, Nery FC, Hewett JW, Berkowitz LA, Breakefield XO, Caldwell KA, Caldwell GA
Hum Mol Genet 2010 Sep 15;19(18):3502-15. Epub 2010 Jun 28 doi: 10.1093/hmg/ddq266. [Epub ahead of print] PMID: 20584926Free PMC Article
Brüggemann N, Klein C
Curr Neurol Neurosci Rep 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. PMID: 20425035
Bradley D, Whelan R, Walsh R, O'Dwyer J, Reilly R, Hutchinson S, Molloy F, Hutchinson M
Mov Disord 2010 Jan 15;25(1):84-90. doi: 10.1002/mds.22889. PMID: 19938165

Therapy

Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, Boon AJ, Klein C, Koelman JH, Langeveld TP, Baas F, Tijssen MA
J Neurol Neurosurg Psychiatry 2012 Oct;83(10):1006-11. Epub 2012 Jul 8 doi: 10.1136/jnnp-2012-302729. [Epub ahead of print] PMID: 22773857
Olufolabi AJ, Wee MY
Br J Anaesth 2006 May;96(5):611-3. Epub 2006 Mar 10 doi: 10.1093/bja/ael056. [Epub ahead of print] PMID: 16531441
Paret G, Tirosh R, Ben Zeev B, Vardi A, Brandt N, Barzilay Z
Acta Paediatr 1996 May;85(5):635-7. PMID: 8827116
Burke RE, Fahn S, Marsden CD
Neurology 1986 Feb;36(2):160-4. PMID: 3511401
Richards CL, Bédard PJ, Fortin G, Malouin F
Neurology 1983 Aug;33(8):1083-7. PMID: 6683810

Prognosis

Zacchi LF, Wu HC, Bell SL, Millen L, Paton AW, Paton JC, Thomas PJ, Zolkiewski M, Brodsky JL
J Biol Chem 2014 May 2;289(18):12727-47. Epub 2014 Mar 13 doi: 10.1074/jbc.M113.529123. [Epub ahead of print] PMID: 24627482Free PMC Article
Brüggemann N, Klein C
Curr Neurol Neurosci Rep 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. PMID: 20425035
Rechitsky S, Verlinsky O, Kuliev A, Ozen S, Laziuk K, Beck R, Gleicher N, Verlinsky Y
Reprod Biomed Online 2004 Feb;8(2):224-8. PMID: 14989804
Peñarrocha M, Sanchis JM, Rambla J, Guarinos J
Int J Oral Maxillofac Implants 2001 May-Jun;16(3):433-5. PMID: 11432664
Burke RE, Brin MF, Fahn S, Bressman SB, Moskowitz C
Mov Disord 1986;1(3):163-78. doi: 10.1002/mds.870010302. PMID: 3504242

Clinical prediction guides

Zacchi LF, Wu HC, Bell SL, Millen L, Paton AW, Paton JC, Thomas PJ, Zolkiewski M, Brodsky JL
J Biol Chem 2014 May 2;289(18):12727-47. Epub 2014 Mar 13 doi: 10.1074/jbc.M113.529123. [Epub ahead of print] PMID: 24627482Free PMC Article
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. [Epub ahead of print] PMID: 21840890
Norgren N, Mattson E, Forsgren L, Holmberg M
Neurogenetics 2011 May;12(2):137-43. Epub 2011 Feb 8 doi: 10.1007/s10048-011-0274-9. [Epub ahead of print] PMID: 21301909
Blomstedt P, Hariz MI, Tisch S, Holmberg M, Bergenheim TA, Forsgren L
Mov Disord 2009 Dec 15;24(16):2415-9. doi: 10.1002/mds.22842. PMID: 19890997
Warner TT, Fletcher NA, Davis MB, Ahmad F, Conway D, Feve A, Rondot P, Marsden CD, Harding AE
Brain 1993 Jun;116 ( Pt 3):739-44. PMID: 8513401

Recent systematic reviews

Groen JL, Ritz K, Tanck MW, van de Warrenburg BP, van Hilten JJ, Aramideh M, Baas F, Tijssen MA
Mov Disord 2013 Jun;28(6):827-31. Epub 2013 Mar 4 doi: 10.1002/mds.25381. [Epub ahead of print] PMID: 23460578
Beis JM, Bertoni N, Isner-Horobeti ME, Kandel M, Mainard D, Martinet N, Chapelain LL, Paysant J
NeuroRehabilitation 2012;30(3):235-7. doi: 10.3233/NRE-2012-0750. PMID: 22635129
O'Riordan S, Raymond D, Lynch T, Saunders-Pullman R, Bressman SB, Daly L, Hutchinson M
Neurology 2004 Oct 26;63(8):1423-6. PMID: 15505159
Greene P, Shale H, Fahn S
Mov Disord 1988;3(1):46-60. doi: 10.1002/mds.870030107. PMID: 3050472

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