Abstract
INTRODUCTION:Myoclonic dystonia is a movement disorder with low prevalence, but very disabling, where refractoriness to medical treatment is frequent. Deep brain stimulation has been proposed as a therapeutic option, seeking to improve motor function, disability and quality of life in these patients.
MATERIALS AND METHODS:We present 3 patients with a clinical diagnosis of Myoclonic-Dystonia without genetic confirmation, who underwent bilateral deep brain stimulation of the Globus Pallidus Internus.
RESULTS:A significant improvement was evidenced in the evaluation of the unified myoclonus scale (80-90 %) and in the Burke-Fahn-Marsden dystonia scale (both in mobility and in disability). The clinical improvement was evidenced in the 3 patients, in follow-up periods that were between 6 months and 5 years after deep brain stimulation.
DISCUSSION AND CONCLUSIONS:Findings in this Colombian case series are consistent with that reported in the literature. However, the current description provides information on the outcome of patients without genotyping undergoing deep brain stimulation, considering that the efficacy of the intervention in these types of patients without genetic confirmation has not been determined and depends on other factors.
References
Roze E, Lang AE, Vidailhet M. Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment. Curr Opin Neurol. 2018;31(4):484-90.
Rocha H, Linhares P, Chamadoira C, Rosas MJ, Vaz R. Early deep brain stimulation in patients with myoclonus-dystonia syndrome. J Clin Neurosci. 2016;27:17-21.
Nardocci N. Myoclonus-dystonia syndrome. Handb Clin Neurol. 2011;100:563-75.
Rughani AI, Lozano AM. Surgical treatment of myoclonus dystonia syndrome. Mov Disord. 2013;28(3):282-7.
Azoulay-Zyss J, Roze E, Welter ML, Navarro S, Yelnik J, Clot F, et al. Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to e-sarcoglycan mutations: a pilot study. Arch Neurol 2011;68:94-8.
Vidailhet M, Jutras MF, Grabli D, Roze E. Deep brain stimulation for dystonia. J Neurol Neurosurg Psychiatry. 2013;84(9):1029-42.
Gruber D, Kùhn AA, Schoenecker T, Kivi A, Trottenberg T, Hoffmann KT, et al. Pallidal and thalamic deep brain stimulation in myoclonus-dystonia. Mov Disord 2010;25:1733-43.
Beukers RJ, Contario MF, Speelman JD, Schuurman PR, Booij J, Tijssen MA. Deep brain stimulation of the pallidum is effective and might stabilize striatal D2 receptor binding in myoclonus-dystonia. Front Neurol 2012;3:22.
Cif L, Valente E, Hemm S, Coubes C, Vayssiere N, Serrat S, et al. Deep brain stimulation in myoclonus-dystonia syndrome. Mov Disord 2004;19:724-7.
Contarino MF, Foncke EM, Cath DC, Schuurman PR, Speel-man JD, Tijssen MA, et al. Effect of pallidal deep brain stimulation on psychiatric symptoms in myoclonus-dystonia due to epsilonsarcoglycan mutations. Arch Neurol 2011;68:1087-8.
Foncke E, Bour L, Spellman J, Koelman JH, Tijssen MA. Local ield potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia. Mov Disord 2007;22:369-76.
Jog M, Kumar H. Bilateral pallidal deep brain stimulation in a case of myoclonus dystonia syndrome. Mov Disord. 2009;24:1547-9.
Kim JH, Na YC, Lee WH, Chang WS, Jung HH, Chang JW. Bilateral globus pallidus interna deep-brain stimulation in a patient with myoclonus-dystonia: a case report. Neuromodulation 2014;17:724-8.
Kùhn AA, Krause P, Lauritsch K, Zentner C, Brùcke C, Schneider GH. Early surgical treatment in a case of myoclonus dystonia syndrome. J Child Neurol. 2014;29:NP149-50.
Kuncel AM, Turner DA, Ozelius LJ, Greene PE, Grill WM, Stacy MA. Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome. Clin Neurol Neurosurg. 2009;111:303-6.
Kurtis MM, Luciano M, Yu Q, Goodman RR, Ford B, Raymond D, et al. Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation. Clin Neurol Neurosurg 2010;112:149-52.
Liu X, Griffin IC, Parkin SG, Miall RC, Rowe JG, Gregory RP, et al. Involvement of the medial pallidum in focal myoclonic dystonia: a clinical and neurophysiological case study. Mov Disord. 2002;17:346-53.
Magariños-Ascone C, Regidor I, Martínez-Castrillo J, Gómez-Galán M, Figueiras-Méndez R. Pallidal stimulation relieves myoclonus-dystonia syndrome. J Neurol Neurosurg Psychiatry. 2005;76:989-91.
Oropilla JQ, Diesta CC, Itthimathin P, Suchowersky O, Kiss ZH. Both thalamic and pallidal deep brain stimulation for myoclonic dystonia. J Neurosurg. 2010;112:1267-70.
Papuc E, Obszanska K, Rejdak K, Stelmasiak Z, Trojanowski T. Atypical symptomatology of myoclonus dystonia (DYT-11) with positive response to bilateral pallidal deep brain stimulation. Mov Disord. 2014;29:E3.
Sidiropoulos C, Mestre T, Hutchison W, Moro E, Valencia A, Poon YY, et al. Bilateral pallidal stimulation for sargoglycan epsilon negative myoclonus. Parkinsonism Relat Disord. 2014;20:915-8.
Trottenberg T, Meissner W, Kabus C, Arnold G, Funk T, Einhaupl KM, Kupsch A. Neurostimulation of the ventral intermediate thalamic nucleus in inherited myoclonus-dystonia syndrome. Mov Disord. 2001;16:769-71.
Uruha A, Kimura K, Okiyama R. An Asian patient with myoclonus-dystonia (DYT11) responsive to deep brain stimulation of the globus pallidus internus. Case Rep Neurol Med. 2014;2014:937095.
Vercueil L, Pollak P, Fraix V, Caputo E, Moro E, Benazzouz A, et al. Deep brain stimulation in the treatment of severe dystonia. J Neurol. 2001;248:695-700.
Wang S, Liu X, Yianni J, Green AL, Joint C, Stein JF, et al. Use of surface electromyography to assess and select patients with idiopathic dystonia for bilateral pallidal stimulation. J Neurosurg. 2006;105:21-5.
Yianni J, Bain P, Giladi N, Auca M, Gregory R, Joint C, et al. Globus pallidus internus deep brain stimulation for dystonic conditions: a prospective audit. Mov Disord. 2003;18:436-42.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.