Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Torsion Dystonias Treatment & Management

  • Author: Priyantha Herath, MD, PhD; Chief Editor: Selim R Benbadis, MD  more...
 
Updated: Feb 15, 2016
 

Medical Care

Available therapies for dystonia include oral medications or subcutaneous botulinum toxin injections, surgical procedures, and physical and/or rehabilitation therapies.[28, 29] Therapy for most people with dystonia is symptomatic, directed at controlling the intensity of the dystonic contractions.

  • Although no curative treatment for dystonia is available, treatment of the underlying disorder may help reverse symptoms in patients with secondary forms of dystonia (eg, from Wilson disease or DRD).
  • Early diagnosis and start of treatment for dystonia, though not proven to alter its course or increase the likelihood for remission, may improve quality of life and alleviate the disability of patients with dystonia.
  • Overall, about 40% of patients improve with oral therapy. Adverse effects of the particular agents used can limit the benefits.
  • Overall, the goals of therapy should be directed at increasing movement, alleviating pain, preventing contractures, restoring functional abilities, and minimizing adverse effects from medical therapy.[30]
Next

Surgical Care

Surgical care is reserved for patients with severe symptoms in whom drug therapy fails. In general, it should be considered in patients with generalized dystonia because these patients are severely affected, because their condition is most likely to be refractory to therapy, or because they have unfavorable responses to medical therapy primarily due to adverse effects related to their need for increasing doses or to drug interactions from polypharmacy. Careful patient selection is one of the most important aspects of ensuring a successful surgical outcome.

  • Thalamotomy was originally the preferred surgery for dystonia.[31] However, GPI pallidal deep brain stimulation (DBS) has produced remarkable improvement in dystonic symptoms associated with Parkinson disease. In light of this, pallidotomy or thalamotomy is no longer considered appropriate.
  • With the development of high-frequency stimulation as an alternative to the creation of surgical lesions, surgical procedures have become safer and adverse effects are easier to control than before. As the disease progresses, stimulation may be varied.[32]
  • Over the past few years, DBS of the globus pallidus interna (GPI) has gained widespread acceptance as an effective treatment for primary generalized dystonia.[33, 34, 35] {ref36
  • GPI DBS is becoming popular in patients with primary dystonia because of its effectiveness and safety. It can be proposed at the initial phase of the disease to limit the functional consequences and to improve the prognosis for functional recovery. The consensus is that the secondary forms are less responsive than primary forms, yet responses in secondary forms do occur.[39]
  • Selective peripheral denervation with partial rhizotomy performed by an experienced surgeon may have a role in cervical dystonia that does not respond to other therapies.[41]
  • Myectomy may be beneficial for blepharospasm and minimally effective for cervical dystonia. Problems include weakness and disfigurement.
Previous
 
 
Contributor Information and Disclosures
Author

Priyantha Herath, MD, PhD Director of Movement Disorders Clinic, Attenting Neurologist, Department of Neurology, University of South Carolina School of Medicine at Columbia

Priyantha Herath, MD, PhD is a member of the following medical societies: American Academy of Neurology, International Parkinson and Movement Disorder Society

Disclosure: Nothing to disclose.

Coauthor(s)

Souvik Sen, MD, MPH, MS, FAHA Professor and Chair, Department of Neurology, University of South Carolina School of Medicine

Souvik Sen, MD, MPH, MS, FAHA is a member of the following medical societies: American Academy of Neurology, Association for Patient-Oriented Research, American Heart Association

Disclosure: Nothing to disclose.

Sonal Mehta, MD Clinical Assistant Professor, Department of Neurology, University of South Carolina School of Medicine

Sonal Mehta, MD is a member of the following medical societies: American Academy of Neurology, American Heart Association, American Stroke Association, Neurocritical Care Society, Society of Vascular and Interventional Neurology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Nestor Galvez-Jimenez, MD, MSc, MHA The Pauline M Braathen Endowed Chair in Neurology, Chairman, Department of Neurology, Program Director, Movement Disorders, Department of Neurology, Division of Medicine, Cleveland Clinic Florida

Nestor Galvez-Jimenez, MD, MSc, MHA is a member of the following medical societies: American Academy of Neurology, American College of Physicians, International Parkinson and Movement Disorder Society

Disclosure: Nothing to disclose.

Chief Editor

Selim R Benbadis, MD Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Medical Association, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cyberonics; Eisai; Lundbeck; Sunovion; UCB; Upsher-Smith<br/>Serve(d) as a speaker or a member of a speakers bureau for: Cyberonics; Eisai; Glaxo Smith Kline; Lundbeck; Sunovion; UCB<br/>Received research grant from: Cyberonics; Lundbeck; Sepracor; Sunovion; UCB; Upsher-Smith.

Additional Contributors

Stephen T Gancher, MD Adjunct Associate Professor, Department of Neurology, Oregon Health Sciences University

Stephen T Gancher, MD is a member of the following medical societies: American Academy of Neurology, American Neurological Association, International Parkinson and Movement Disorder Society

Disclosure: Nothing to disclose.

Jasvinder Chawla, MD, MBA Chief of Neurology, Hines Veterans Affairs Hospital; Professor of Neurology, Loyola University Medical Center

Jasvinder Chawla, MD, MBA is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Clinical Neurophysiology Society, American Medical Association

Disclosure: Nothing to disclose.

Vijaya K Patil, MD Assistant Professor, Department of Neurology, Edward Hines Jr Veterans Affairs Medical Center, Loyola University, Chicago Stritch School of Medicine

Vijaya K Patil, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Medical Council of India

Disclosure: Nothing to disclose.

References
  1. Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. Mov Disord. 1987. 332-58.

  2. Grundman K. Primary torsion dystonia. Arch Neurol. 2005. 62(4):682-5.

  3. Zacchi LF, Wu HC, Bell SL, Millen L, Paton AW, Paton JC, et al. The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia. J Biol Chem. 2014 May 2. 289(18):12727-47. [Medline]. [Full Text].

  4. Zech M, Gross N, Jochim A, Castrop F, Kaffe M, Dresel C, et al. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Mov Disord. 2014 Jan. 29(1):143-7. [Medline].

  5. McNaught KS, Kapustin A, Jackson T, et al. Brainstem pathology in DYT1 primary torsion dystonia. Ann Neurol. 2004 Oct. 56(4):540-7. [Medline].

  6. Eidelberg D, Moeller JR, Antonini A, et al. Functional brain networks in DYT1 dystonia. Ann Neurol. 1998 Sep. 44(3):303-12. [Medline].

  7. Ramdhani RA, Simonyan K. Primary dystonia: conceptualizing the disorder through a structural brain imaging lens. Tremor Other Hyperkinet Mov (N Y). 2013. 3:[Medline]. [Full Text].

  8. Kaji R, Nagako M, Urushihara R. Sensory deficits in dystonia and their significance. Fahn S, Hallet M, DeLong M, eds. Advances in Neurology: Dystonia. Philadelphia, Pa: Lippincott, Williams and Wilkins; 2004. Vol 94: 11-7.

  9. Bara-Jimenez W, Catalan MJ, Hallett M, Gerloff C. Abnormal somatosensory homunculus in dystonia of the hand. Ann Neurol. 1998 Nov. 44(5):828-31. [Medline].

  10. Trost M. Dystonia update. Curr Opin Neurol. 2003 Aug. 16(4):495-500. [Medline].

  11. Nutt JG, Muenter MD, Aronson A, et al. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord. 1988. 3(3):188-94. [Medline].

  12. Fukuda H, Kusumi M, Nakashima K. Epidemiology of primary focal dystonias in the western area of Tottori prefecture in Japan: Comparison with prevalence evaluated in 1993. Mov Disord. 2006 Sep. 21(9):1503-6. [Medline].

  13. Defazio G, Abbruzzese G, Livrea P, Berardelli A. Epidemiology of primary dystonia. Lancet Neurol. 2004 Nov. 3(11):673-8. [Medline].

  14. Epidemiologic Study of Dystonia in Europe (ESDE) Collaborative Group. Sex-related influences on the frequency and age of onset of primary dystonia. Neurology. 1999 Nov 10. 53(8):1871-3. [Medline].

  15. Almasy L, Bressman SB, Raymond D, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol. 1997 Oct. 42(4):670-3. [Medline].

  16. Valente EM, Bentivoglio AR, Cassetta E, et al. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset. Ann Neurol. 2001 Mar. 49(3):362-6. [Medline].

  17. Nemeth AH. The genetics of primary dystonias and related disorders. Brain. 2002 Apr. 125(Pt 4):695-721. [Medline].

  18. Shang H, Clerc N, Lang D, et al. Clinical and molecular genetic evaluation of patients with primary dystonia. Eur J Neurol. 2005 Feb. 12(2):131-8. [Medline].

  19. Barrett MJ, Bressman S. Genetics and pharmacological treatment of dystonia. Int Rev Neurobiol. 2011. 98:525-49. [Medline].

  20. Wider C, Melquist S, Hauf M, Solida A, Cobb SA, Kachergus JM, et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology. 2008 Apr 15. 70(16 Pt 2):1377-83. [Medline]. [Full Text].

  21. Han F, Racacho L, Lang AE, Bulman DE, Grimes DA. Refinement of the DYT15 locus in myoclonus dystonia. Mov Disord. 2007 Apr 30. 22(6):888-92. [Medline].

  22. Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 2008 Mar. 7(3):207-15. [Medline].

  23. Chouery E, Kfoury J, Delague V, Jalkh N, Bejjani P, Serre JL, et al. A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. Neurogenetics. 2008 Oct. 9(4):287-93. [Medline].

  24. Bressman SB, de Leon D, Brin MF, et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol. 1989 Nov. 26(5):612-20. [Medline].

  25. Müller U. The monogenic primary dystonias. Brain. 2009 Aug. 132:2005-25. [Medline].

  26. Orosz F, Oláh J, Ovádi J. Triosephosphate isomerase deficiency: New insights into an enigmatic disease. Biochim Biophys Acta. 2009 Dec. 1792(12):1168-74. [Medline].

  27. Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol. 2011 Jan. 18(1):5-18. [Medline].

  28. Cloud LJ, Jinnah HA. Treatment strategies for dystonia. Expert Opin Pharmacother. 2010 Jan. 11(1):5-15. [Medline].

  29. Delnooz CC, Horstink MW, Tijssen MA, van de Warrenburg BP. Paramedical treatment in primary dystonia: a systematic review. Mov Disord. 2009 Nov 15. 24(15):2187-98. [Medline].

  30. Bressman SB, Greene PE. Dystonia. Curr Treat Options Neurol. 2000 May. 2(3):275-285. [Medline].

  31. Tasker RR, Doorly T, Yamashiro K. Thalamotomy in generalized dystonia. Adv Neurol. 1988. 50:615-31. [Medline].

  32. Krause M, Fogel W, Kloss M, et al. Pallidal stimulation for dystonia. Neurosurgery. 2004 Dec. 55(6):1361-8; discussion 1368-70. [Medline].

  33. Tronnier VM, Fogel W. Pallidal stimulation for generalized dystonia: report of three cases. J Neurosurg. 2000 Mar. 92(3):453-6. [Medline].

  34. Vercueil L, Pollak P, Fraix V, et al. Deep brain stimulation in the treatment of severe dystonia. J Neurol. 2001 Aug. 248(8):695-700. [Medline].

  35. Coubes P, Echenne B, Roubertie A, et al. Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case [in French]. Neurochirurgie. 1999 May. 45(2):139-44. [Medline].

  36. Krauss JK, Yianni J, Loher TJ, Aziz TZ. Deep brain stimulation for dystonia. J Clin Neurophysiol. 2004 Jan-Feb. 21(1):18-30. [Medline].

  37. Coubes P, Cif L, El Fertit H, et al. Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results. J Neurosurg. 2004 Aug. 101(2):189-94. [Medline].

  38. Cif L, Vasques X, Gonzalez V, Ravel P, Biolsi B, Collod-Beroud G, et al. Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study. Mov Disord. 2010 Jan 8. [Medline].

  39. Woehrle JC, Blahak C, Kekelia K, Capelle HH, Baezner H, Grips E, et al. Chronic deep brain stimulation for segmental dystonia. Stereotact Funct Neurosurg. 2009. 87(6):379-84. [Medline].

  40. Lozano A, Abosch A. Pallidal stimulation for dystonia. Fahn S, Hallet M, De Long M, eds. Advances in Neurology: Dystonia. Philadelphia, Pa: Lippincott, Williams and Wilkins; 2004. Vol 94: 301-8.

  41. Bertrand CM, Molina-Negro P. Selective peripheral denervation in 111 cases of spasmodic torticollis: rationale and results. In: Fahn S, Marsden CD, Calne DB, eds. Dystonia. Advances in Neurology. New York, NY: Raven; 1988. Vol 50: 637-43.

  42. Burke RE, Fahn S, Marsden CD. Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl. Neurology. 1986 Feb. 36(2):160-4. [Medline].

  43. Balash Y, Giladi N. Efficacy of pharmacological treatment of dystonia: evidence-based review including meta-analysis of the effect of botulinum toxin and other cure options. Eur J Neurol. 2004 Jun. 11(6):361-70. [Medline].

  44. Brin MF, Comella C, Jankovic J. Dystonia: Etiology, Clinical Features, and Treatment. Philadelphia, Pa: Lippincott, Williams, and Wilkins; 2004.

  45. Fahn S, Hallet M, De Long M, eds. Advances in Neurology: Dystonia. Philadelphia, Pa: Lippincott, Williams and Wilkins; 2004. Vol 94:

  46. FDA Requires Boxed Warning for All Botulinum Toxin Products. U.S. Food and Drug Administration. Available at http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm149574.htm. Accessed: January 19, 2010.

  47. Ford B, Greene P, Louis ED, et al. Use of intrathecal baclofen in the treatment of patients with dystonia. Arch Neurol. 1996 Dec. 53(12):1241-6. [Medline].

  48. Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009 Mar. 41(3):286-8. [Medline].

  49. Greene P. Baclofen in the treatment of dystonia. Clin Neuropharmacol. 1992 Aug. 15(4):276-88. [Medline].

  50. Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, et al. Novel THAP1 sequence variants in primary dystonia. Neurology. 2010 Jan 19. 74(3):229-38. [Medline]. [Full Text].

  51. Segawa M, Nomura Y. Genetics and pathophysiology of primary dystonia with special emphasis on DYT1 and DYT5. Semin Neurol. 2014 Jul. 34 (3):306-11. [Medline].

  52. Müller J, Wissel J, Masuhr F, Ebersbach G, Wenning GK, Poewe W. Clinical characteristics of the geste antagoniste in cervical dystonia. J Neurol. 2001 Jun. 248 (6):478-82. [Medline].

Previous
Next
 
Idiopathic torsion dystonia. Major nuclear complex of the basal ganglia is the striatum, which is composed of the caudate and putamen. The striatum receives glutamatergic input from the cerebral cortex and dopaminergic input from the substantia nigra pars compacta (SNc). Two types of spiny projection neurons receive cortical and nigral inputs: those that project directly and those that project indirectly to the internal segment of the globus pallidus (GPI), which is the major output site of the basal ganglia. Complementary action of both of these pathways regulates the overall function of the GPI. The GPI, which, in turn, provides tonic inhibitory (ie, gamma-aminobutyric acid [GABA]–ergic) discharges downstream into the thalamic nuclei that project to the frontal cortical and other CNS areas. Direct pathway (D1) inhibits the substantia nigra pars reticulata (SNr) and the GPI, which are the major output sites, resulting in a net disinhibition and facilitation of thalamocortical circuits. Indirect pathway (D2), through serial connections with the globus pallidus pars externa (GPe) and the subthalamic nucleus (STN), is excitatory to the GPI, resulting in further inhibitory action on thalamocortical pathways. In this model, the mean discharge rate of the GPI is the key factor that determines a hypokinetic or hyperkinetic movement disorder. Increased inhibitory influences of the GPI on the thalamocortical circuitry result in hypokinetic disorders, such as Parkinson disease, whereas decreased GPI activity results in hyperkinetic disorders, such as hemiballismus. VL = ventrolateral thalamus.
Table 1. Anatomic Distribution of Primary Torsion Dystonia
FocalBody Site
Segmentaltwo or more contiguous body regions
Multifocaltwo or more noncontiguous body regions
Generalizedinvolving atleast one leg, the trunk and another body region
Hemidystoniainvolving one side of the body
Table.
TypeDesignationMode of InheritanceGeneGene LocusOMIM#
DYT1Early-onset generalizedAutosomal dominantTOR1A9q.34.11128100
DYT2Early-onset generalizedAutosomal recessiveUknownUknown224500
DYT3X-linked dystonia parkinsonism (Lubag syndrome)X-chromosomal recessiveTAF1Xq13.1314250
DYT4Torsion dystonia (Whispering dysphonia)Autosomal dominantTUBB4A19p13.3128101
DYT5aDopa-responsive dystonia (Segawa disease)Autosomal dominantGCH114q22.1–22.2128230
DYT5bDopa-responsive dystoniaAutosomal recessiveTH11p15.5605407
DYT6Adolescent-onset mixed phenotypeAutosomal dominantTHAP18p11.21602629
DYT7Paroxysmal dystonic choreoathetosisAutosomal dominantUnknown18p602124
DYT8Paroxysmal kinesigenic, nonkinesigenic dyskinesiaAutosomal dominantMR-12q33–35118800
DYT9Paroxysmal choreoathetosis with spasticityAutosomal dominantCSE1p601042
DYT10Paroxysmal kinesigenic dystoniaAutosomal dominantPRRT216q11.2–12.1128200
DYT11Myoclonus dystoniaAutosomal dominantSGCE7q21.3159900
DYT11Myoclonus dystoniaAutosomal dominantDRD211q23.2159900
DYT12Rapid-onset dystonia parkinsonism (syndrome)Autosomal dominantATP1A319q12–13.2128235
DYT13Early- and late-onset focal or craniocervical dystoniaAutosomal dominantUnknown1p36.32-p36.13607671
DYT14Dopa-responsive generalized dystonia    
DYT15Myoclonus-dystoniaAutosomal dominantUnknown18p11607488
DYT16Dystonia-parkinsonism syndromeAutosomal recessivePRKRA2q31.2612067
DYT17Adolescent onsetAutosomal recessiveUnknown20p11.2-q13.12612406
DYT18Paroxysmal exertion-induced dyskinesiaAutosomal dominantSLC2A11p34.2612126
DYT19Paroxysmal kinesigenic dyskinesia 2Autosomal dominantUnknown16q13-q22.1611031
DYT20Paroxysmal nonkinesigenic dyskinesia 2Autosomal dominantUnknown2q31611147
DYT21Late-onset torsion dystoniaAutosomal dominantUnknown2q14.3-q21.3614588
DYT22  UnknownUnknownNot listed
DYT23Adult-onset cervical dystoniaAutosomal dominantCIZ19q34614860
DYT24Focal dystoniaAutosomal dominantANO311p14.2615034
DYT25Adult-onset focal dystoniaAutosomal dominantGNAL18p11.21615073
Table.
Previous
Next
 
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.