Author(s): Lee JH, Lyoo CH, Lee MS
Background:The various medical treatments applied to myoclonus-dystonia patients with a mutation of the ε-sarcoglycan gene (SGCE) have not been beneficial in most cases. Most patients experience progressive deterioration or static clinical courses, with only rare cases of spontaneous remission.
Case report:A 19-year-old girl presented with a 14-year history of myoclonus and dystonia that severely affected her left arm, neck, and trunk. Genetic studies showed a mutation in SGCE [deletion in exon 6 (c.771_772delAT, Cys258X)]. Both myoclonus and dystonia responded to anticholinergic treatment for 7 years and improved spontaneously.
Conclusions:The possibility of spontaneous improvement should be kept in mind when considering the therapeutic strategy in myoclonus-dystonia patients, especially when contemplating deep-brain stimulation.
Referred From: https://www.ncbi.nlm.nih.gov/pubmed/22259621
Author(s): Nardocci N
Author(s): Hess CW, Raymond D, AguiarPde C, Frucht S, Shriberg J, et al.
Author(s): Misbahuddin A, Placzek M, Lennox G, Taanman JW, Warner TT
Author(s): Grimes DA, Han F, Lang AE, St George-Hyssop P, Racacho L, et al.
Author(s): Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, et al.
Author(s): Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, et al.
Author(s): Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, et al.
Author(s): Harris RA
Author(s): Hevers W, Lüddens H
Author(s): Jacob TC, Michels G, Silayeva L, Haydon J, Succol F, et al.
Author(s): Vlastelica M, Jelaska M
Author(s): Abdelsayed M, Sokolov S
Author(s): Bialer M
Author(s): Stamelou M, Mencacci NE, Cordivari C, Batla A, Wood NW, et al.
Author(s): Bräutigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, et al.
Author(s): Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, et al.
Author(s): Rodriguez MC, Obeso JA, Olanow CW
Author(s): Szołna A, Harat M, Gryz J
Author(s): Hirabayashi H, Hariz MI, Wårdell K, Blomstedt P
Author(s): McIntyre CC, Grill WM, Sherman DL, Thakor NV
Author(s): Kuncel AM, Turner DA, Ozelius LJ, Greene PE, Grill WM, et al.
Author(s): Beukers RJ, Contarino MF, Speelman JD, Schuurman PR, Booij J, et al.
Author(s): Rughani AI, Lozano AM
Author(s): Frucht SJ, Bordelon Y, Houghton WH, Reardan D
