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Dystonier

Sist revidert:
Sist revidert av:
Definisjon:
En tilstand med ufrivillige, vridende, vedvarende muskelkontraksjoner som et isolert fenomen eller i kombinasjon med underliggende nevrologisk sykdom
Forekomst:
Kronisk dystoni forekommer hos mer enn 300 personer pr én million innbyggere
Symptomer:
Vridende, repeterte bevegelser av den kroppsregionen som er rammet. Ledsages ofte av unormale kroppsholdninger
Funn:
Ufrivillige bevegelser rundt øynene, ansiktet, mandibulærmusklene, tungen, halsmusklene, armer, hender og føtter
Diagnostikk:
Finnes ingen diagnostiske undersøkelser, men gentesting, MR, og ulike typer labtester gjøres for å utelukke andre forklaringer
Behandling:
Symptomatisk. Bortsett fra dopa-responsiv dystoni og Wilsons sykdom er behandlingsalternativene botox-injeksjoner, ev. dyp hjernestimulering
  • Nasjonal kompetansetjeneste for bevegelsesforstyrrelser (NKB) - nettside 
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  3. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013; 28:863. PubMed  
  4. Comella C. Classification and evaluation of dystonia. UpToDate, last updated Aug 19, 2018. UpToDate  
  5. Steeves TD, Day L, Dykeman J, et al. The prevalence of primary dystonia: a systematic review and meta-analysis. Mov Disord 2012; 27:1789. PubMed  
  6. Tallaksen CME, Dietrichs E. Genetikk ved bevegelsesforstyrrelser - spinocerebellære lidelser Tidsskr Nor Lægeforen 2004; 124: 2233-5.
  7. Charlesworth G, Bhatia KP, Wood NW. The genetics of dystonia: new twists in an old tale. Brain. 2013 Jul;136(Pt 7):2017-37. Epub 2013 Jun 17. PMID: 23775978 PubMed  
  8. Holton JL, Schneider SA, Ganesharajah T, et al. Neuropathology of primary adult-onset dystonia. Neurology 2008; 70:695. Neurology  
  9. Phukan J, Albanese A, Gasser T, Warner T. Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurol 2011; 10:1074. PubMed  
  10. Geyer HL, Bressman SB. The diagnosis of dystonia. Lancet Neurol 2006; 5:780. PubMed  
  11. Bressman SB. Dystonia genotypes, phenotypes, and classification. Adv Neurol 2004; 94: 101-7. PubMed  
  12. O'Riordan S, Raymond D, Lynch T, et al. Age at onset as a factor in determining the phenotype of primary torsion dystonia. Neurology 2004; 63:1423. Neurology  
  13. Logroscino G, Livrea P, Anaclerio D, et al. Agreement among neurologists on the clinical diagnosis of dystonia at different body sites. J Neurol Neurosurg Psychiatry 2003; 74:348. PubMed  
  14. Albanese A, Barnes MP, Bhatia KP, et al. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur J Neurol 2006; 13:433. PubMed  
  15. Frank S. Dystonias. BMJ BestPractice, last updated January 2019.
  16. Comella C. Treatment of dystonia. UpToDate, last updated Mar 27, 2019. UpToDate  
  17. Quagliato EM, Carelli EF, Viana MA. A prospective, randomized, double-blind study comparing the efficacy and safety of type A botulinum toxins Botox and Prosigne in the treatment of cervical dystonia. Clin Neuropharmacol 2010; 33: 22-6. PubMed  
  18. Zoons E, Dijkgraaf MG, Dijk JM, et al. Botulinum toxin as treatment for focal dystonia: a systematic review of the pharmaco-therapeutic and pharmaco-economic value. J Neurol. 2012 Dec;259(12):2519-26. PubMed  
  19. Simpson DM, Hallett M, AshmanEJ, et al. Practice guideline update summary: Botulinum neurotoxin for the treatment of plepharospasm, cervical dystonia, adult spasticity, and headache. Neurology 2016. doi:10.1212/WNL.0000000000002560 DOI  
  20. 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; 101: 189-194. PubMed  
  21. Toft M, Lilleeng B, Ramm-Pettersen J et al. Behandling av bevegelsesforstyrrelser med dyp hjernestimulering. Tidsskr Nor Legeforen 2008; 128: 1972-6. Tidsskrift for Den norske legeforening  
  • Rune Midgard, spesialist i nevrologi, Molde
  • Terje Johannessen, professor i allmennmedisin, Trondheim

Tidligere fagmedarbeidere

  • Espen Dietrichs, professor og avdelingsoverlege, Universitetet i Oslo og Nevrologisk avdeling, Rikshospitalet, Oslo