Resumen
Para el manejo médico de la distonía se han utilizado tradicionalmente varios fármacos encaminados a disminuir esta condición y a mejorar la calidad de vida. Las terapias orales solas o combinadas proporcionan control parcial de los síntomas y en la mayoría de los casos hay que recurrir a terapias invasivas.
Citas
Jankovic J. Treatment of dystonia. Lancet Neurol. 2006;5(10):864-72. https://doi.org/10.1016/S1474-4422(06)70574-9
Fung VS, Jinnah HA, Bhatia K, Vidailhet M. Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. Mov Disord. 2013; 28(7):889-98. https://doi.org/10.1002/mds.25549
Albanese A, Lalli S. Is this Dystonia?. Mov Disord. 2009;24(12):1725-73. https://doi.org/10.1002/mds.22597
Snaith A, Wade D. Dystonia. BMJ Clin Evid. 2014;Feb;28.
Jinnah HA, Factor SA. Diagnosis and treatment of dystonia. Neurol Clin. 2015;33(1):77-100. https://doi.org/10.1016/j.ncl.2014.09.002
Svetel M, Kozic D, Stefanoval E, Semnic R, Dragasevic N, Kostic VS. Dystonia in Wilson's disease. Mov Disord. 2001;16(4):719-23.
Delnooz CC, Horstink MW, Tijssen MA, van de Warrenburg BP. Paramedical treatment in primary dystonia: a systematic review. Mov Disord. 2009;24:2187-2198.
Steinberger D, Korinthenberg R, Topka H, et al. Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group. Neurology. 2000;55:1735-1737.
Yaltho TC, Jankovic J, Lotze T. The association of Tourette syndrome and dopa-responsive dystonia. Mov Disord. 2011;26:359-60.
Trender-Gerhard I, Sweeney MG, Schwingenschuh P, et al. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry 2009;80:839-45.
Bernal-Pacheco O, Oyama G, Briton A, Andrew B. Singleton, Hubert H. Fernandez, Ramon L. Rodriguez, et al. A novel DYT-5 Mutation with Phenotipic Variability within a Colombian Family. Tremor Other Hyperkinet Mov (N Y). 2013:10:3. https://doi.org/10.7916/D86W98SW
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with dopa-responsive dystonia. Brain 2009;132:1753-63. https://doi.org/10.1093/brain/awp084
Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, et al. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol. 2012;71(4):520-30. https://doi.org/10.1002/ana.22685.
Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, et al. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011;3:87re3. https://doi.org/10.1126/scitranslmed.3002243.
Hwang WJ, Calne DB, Tsui JK, de la Fuente-Fernandez R. The long-term response to levodopa in dopa-responsive dystonia. Parkinsonism Relat. Disord. 2001;8(1):1-5.
Calderon DP, Fremont R, Kraenzlin F, Khodakhah K. The neural substrates of rapid-onset dystonia-parkinsonism. Nat Neurosci. 2011;14(3):357-65. https://doi.org/10.1038/nn.2753
Brashear A, Cook JF, Hill DF, et al. Psychiatric disorders in rapid onset dystonia-parkinsonism. Neurology. 2012;79:1168-1173.
Burke RE, Fahn S, Marsden CD. Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl. Neurology. 1986;36(2):160-64.
Oztekin NS, Saygi SS, Dalkara T, Senses I, Zileli T. High dose anticholinergic therapy (biperiden) in dystonia. Clin Neurol Neurosurg. 1991;93(1):35-7.
Reuss R, Reuter I, Jauss M, Fischer F, Muller SC, Stolz E. Torticollis under cyclobenzaprine. Pharmacology. 2009;84(2):91-2. https://doi.org/10.1159/000227773
Taylor AE1, Lang AE, Saint-Cyr JA, Riley DE, Ranawaya R. Cognitive processes in idiopathic dystonia treated with high-dose anticholinergic therapy: Implications for treatment strategies. Clin Neuropharmacol. 1991;14(1):62-77.
Benarroch EE. GABAB receptors: structure, functions, and clinical implications. Neurology. 2012;78(8):578-84. https://doi.org/10.1212/WNL.0b013e318247cd03
Hou JG, Ondo W, Jankovic J. Intrathecal baclofen for dystonia. Mov Disord. 2001;16(6):1201-02.
Albright AL, Barry MJ, Shafron DH, Ferson SF. Intrathecal baclofen for generalized dystonia. Dev Med Child Neurol. 2001;43(10):652-57.
Cloud LJ, Jinnah HA. Treatment strategies for dystonia. Expert Opin Pharmacother. 2010;11(1):5-15. https://doi.org/10.1517/14656560903426171.
Motta F, Antonello C. Analysis of complications in 430 consecutive pediatric patients treated with intrathecal baclofen therapy: 14-year experience. J Neurosurg Pediatr. 2014;13(3):301-6. https://doi.org/10.3171/2013.11.PEDS13253
Rocque B, Leland A. Intraventricular vs intrathecal baclofen for secondary dystonia: a comparison of complications. Neurosurgery. 2012;70(2 Suppl Operative):321-5.
van Hilten BJ, van de Beek WJ, Hoff JI, et al. Intrathecal baclofen for the treatment of dystonia in patients with reflex sympathetic dystrophy. N Engl J Med 2000;343:625-630.
Bardutzky J, Tronnier V, Schwab S, Meinck HM. Intrathecal baclofen for stiff-person syndrome: life-threatening intermittent catheter leakage. Neurology. 2003;60(12):1976-78.
Karp BI, Goldstein SR, Chen R, Samii A, Bara-Jimenez W Hallett M. An open trial of clozapine for dystonia. Mov Disord. 1999;14(4):652-57.
Pinninti NR1, Faden J, Adityanjee A. Are Second-Generation Antipsychotics Useful in Tardive Dystonia? Clin Neuropharmacol. 2015;38(5):183-97. https://doi.org/doi:10.1097/WNF.0000000000000106
Grover S1, Hazari N2, Kate N2, et al. Management of tardive syndromes with clozapine: a case series. Asian J Psychiatr. 2014;8:111-4. https://doi.org/doi:10.1016/j.ajp.2013.12.016
Gourzis P1, Skokou M, Soubasi E, Katrivanou A, Polychronopoulos P. Treatment of Tardive Dystonia Induced by Antipsychotics, Old and New. Clin Neuropharmacol. 2015;38(4):121-6. https://doi.org/doi:10.1097/WNF.0000000000000086.
Hanagasi HA1, Bilgic B, Gurvit H, Emre M. Clozapine treatment in oromandibular dystonia. Clin Neuropharmacol. 2004;27(2):84-6.
Jankovic J, Clarence-Smith K. Tetrabenazine for the treatment of chorea and other hyperkinetic movement disorders. Expert Rev Neurother. 2011;(11):1509-23. https://doi.org/doi:10.1586/ern.11.149
Luciano AY, Jinnah HA, Pfeiffer RF, Truong DD, Nance MA, LeDoux MS. Treatment of myoclonus-dystonia syndrome with tetrabenazine. Parkinsonism Relat Disord. 2014;20(12):1423-6. https://doi.org/doi:10.1016/j.parkreldis.2014.09.029
Kaur N, Kumar P, Jamwal S, Deshmukh R, Gauttam V. Tetrabenazina: Spotlight on drug review. Ann Neurosci. 2016;23(3):176-85. https://doi.org/doi:10.1159/000449184
Shapleske J1, Mickay AP, Mckenna PJ. Successful treatment of tardive dystonia with clozapine and clonazepam. Br J Psychiatry. 1996;168(4):516-8.
Davis TL, Charles PD, Burns RS. Clonazepam-sensitive intermittent dystonic tremor. Southern medical journal. 1995; 88(10):1069-71.
Ahmad S, Meeran MK. Treatment of spasmodic torticollis with diazepam. Br Med J. 1979;13(1):127.
Keats S. Dystonia Musculorum Deformans Progressiva. Experience with Diazepam. Dis Nerv Syst. 1963;24:624-9.
Bianchine JR, Bianchine JW. Treatment of spasmodic torticollis with diazepam. South Med J. 1971;64(7):893-4.
Yoshimichi Miyazaki, Wataru Sako, Kotaro Asanuma, Yuishin Izumi, Tetsuro Miki, Ryuji Kaji. Efficacy of zolpidem for dystonia: a study among different subtypes. Front Neurol. 2012;3:58. https://doi.org/doi:10.3389/fneur.2012.00058
Waln O. Jankovic J. Zolpidem improves tardive dyskinesia and akathisia. Mov Disord. 2013; 28(12):1748-9. https://doi.org/doi:10.1002/mds.25480
Evidente VG. Zolpidem improves dystonia in "Lubag" or X-linked dystonia-parkinsonism syndrome. Neurology. 2002;58(4):662-3.
Park IS, Kim JS, An JY, Kim YI, Lee KS. Excellent response to oral zolpidem in a sporadic case of the myoclonus dystonia syndrome. Mov Disord. 2009;24(14):2172-3. https://doi.org/doi:10.1002/mds.22745.
Chen YY, Sy HN, Wu SL. Zolpidem improves akinesia, dystonia and dyskinesia in advanced Parkinson's disease. J Clin Neurosci. 2008;15(8):955-6. https://doi.org/doi:10.1016/j.jocn.2007.07.082
Frucht SJ, Bordelon Y, Houghton WH, Reardam D. A pilot tolerability and efficacy trial of sodium oxybate in ethanol-responsive movement disorders. Mov Disord. 2005;20(10):1330-37. https://doi.org/doi:10.1002/mds.20605
Brewer GJ. Novel therapeutic approaches to the treatment of Wilson's disease. Expert Opin Pharmacother. 2006;(783):317-24. https://doi.org/doi:10.1517/14656566.7.3.317
Li X, Jankovic J, Le W. Iron chelation and neuroprotection in neurodegenerative diseases. J Neural Transm 2011;118(3):473-77. https://doi.org/doi:10.1007/s00702-010-0518-0
Dusek P, Jankovic J, Le W. Iron dysregulation in movement disorders. Neurobiol Dis. 2012;46(1):1-18. https://doi.org/doi:10.1016/j.nbd.2011.12.054
Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA). Curr Neuropharmacol. 2013;11(1):59-79. https://doi.org/doi:10.2174/157015913804999469
Lucetti C, Nuti A, Gambaccini G, Bernardini S, Brotini S, Manca ML. Mexiletine in the treatment of torticollis and generalized dystonia. Clin Neuropharmacol. 2000;23(4):186-89.
Koshy JC, Sharabi SE, Feldman EM, Hollier LH Jr, Patrinely JR, Soparkar CN. Effect of dietary zinc and phytase supplementation on botulinum toxin treatments. J Drugs Dermatol 2012;11:507- 512.
Zorzi G, Zibordi F, Chiapparini L, Bertini E, Russo L, Piga A. Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial. Mov Disord. 2011;26(9):1756-59.
Velasco-Sanchez D, Aracil A, Montero R, et al. Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum. 2011(81);10:1-8. https://doi.org/doi:0.1007/s12311-010-0212-7
Sethi KD, Hess DC, Huffnagle VH, Adams RJ. Acetazolamide treatment of paroxysmal dystonia in central demyelinating disease. Neurology; 1992;42(2):919-21.
Termsarasab P, Thammongkolchai T, Frucht ST. Medical Treatment of Dystonia. Journal of Clinical Movement Disorders. 2016;3:19. https://doi.org/doi:10.1186/s40734-016-0047-6
Cao S, Hewett JW, Yokoi F, Lu J, Buckley AC, Burdette AJ, et al. Chemical enhancement of torsin A function in cell and animal models of torsion dystonia. Dis Model Mech. 2010;3(5-6):386-96. https://doi.org/doi:10.1242/dmm.003715
Truong DD, Sandromi P, van der Noort S, Matsumoto RR. Diphenhydramine is effective in the treatment of idiopathic dystonia. Arch Neurol. 1995;52:405-07.
Loscher W, Richter A. Piracetam and levetiracetam, two pyrrolidone derivatives, exert antidystonic activity in a hamster model of paroxysmal dystonia. Eur J Pharmacol. 2000;391(3):251-54.
Hering S, Wenning GK, Seppi K, Poewe W, Mueller J. An open trial of levetiracetam for segmental and generalized dystonia. Mov Disord 2007; 22 (11):1649-51. https://doi.org/doi:10.1002/mds.21597
Pereira AC, Loo WJ, Bamford M, Wroe SJ. Use of lamotrigine to treat paroxysmal kinesigenic choreoathetosis. J Neurol Neurosurg Psychiatry. 2000;68:796-7.
Albanese A, Romito LM, Calandrella D. Therapeutic advances in dystonia. Mov Dis. 2015, 30(11):1547-56. https://doi.org/doi:10.1002/mds.26384
Hainque E, Vidailhet M, Cozic N, Charbonnier-Beaupel F, Thobois S, Tranchant C. A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia. Neurology. 2016 May 3;86(18):1729-35. https://doi.org/doi:10.1212/WNL.0000000000002631.
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