Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes

作者: Victor S. C. Fung , H. A. Jinnah , Kailash Bhatia , Marie Vidailhet

DOI: 10.1002/MDS.25549

关键词:

摘要: The clinical evaluation of a patient with dystonia is stepwise process, beginning classification the phenomenology movement disorder(s), then formulation syndrome, which, in turn, leads to targeted etiological differential diagnosis. In recent years, there have been significant advances our understanding basis dystonia, aided especially by discoveries imaging and genetics. this review, we provide an update on assessment including highlighting how integrate clinical, imaging, blood, neurophysiological investigations order formulate syndrome. Evolving or emerging syndromes are reviewed, potential etiologies these as well established listed guide diagnostic testing. © 2013 Movement Disorder Society.

参考文章(66)
Marsden Cd, Investigation of dystonia. Advances in Neurology. ,vol. 50, pp. 35- 44 ,(1988)
Alexander Zimprich, Monika Grabowski, Friedrich Asmus, Markus Naumann, Daniela Berg, Markus Bertram, Karl Scheidtmann, Peter Kern, Juliane Winkelmann, Bertram Müller-Myhsok, Leonhard Riedel, Matthias Bauer, Tanja Müller, Mirna Castro, Thomas Meitinger, Tim M. Strom, Thomas Gasser, Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genetics. ,vol. 29, pp. 66- 69 ,(2001) , 10.1038/NG709
W S Kim, I O Kim, J W Kwon, S G Moon, T J Kim, K M Yeon, J E Cheon, J K Seo, MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. American Journal of Neuroradiology. ,vol. 27, pp. 1373- 1378 ,(2006)
M. Stamelou, N. E. Mencacci, C. Cordivari, A. Batla, N. W. Wood, H. Houlden, J. Hardy, K. P. Bhatia, Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency Neurology. ,vol. 79, pp. 435- 441 ,(2012) , 10.1212/WNL.0B013E318261714A
Mirdhu M. Wickremaratchi, M. Duleeka W. Knipe, B.S. Dwarakanath Sastry, Elizabeth Morgan, Anne Jones, Rachel Salmon, Richard Weiser, Maralyn Moran, Debbie Davies, Louise Ebenezer, Sandip Raha, Neil P. Robertson, Christopher C. Butler, Yoav Ben-Shlomo, Huw R. Morris, The motor phenotype of Parkinson's disease in relation to age at onset Movement Disorders. ,vol. 26, pp. 457- 463 ,(2011) , 10.1002/MDS.23469
Meltem Demirkiran, Joseph Jankovic, Paroxysmal dyskinesias: Clinical features and classification Annals of Neurology. ,vol. 38, pp. 571- 579 ,(1995) , 10.1002/ANA.410380405
J. Kalita, U. K. Misra, Markedly severe dystonia in Japanese encephalitis. Movement Disorders. ,vol. 15, pp. 1168- 1172 ,(2000) , 10.1002/1531-8257(200011)15:6<1168::AID-MDS1016>3.0.CO;2-V
Masaya Segawa, Yoshiko Nomura, Nobuyoshi Nishiyama, Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Annals of Neurology. ,vol. 54, ,(2003) , 10.1002/ANA.10630
Ainhi D. Ha, Kaitlyn L. Parratt, Nanna D. Rendtorff, Marianne Lodahl, Karl Ng, Dominic B. Rowe, Carolyn M. Sue, Michael W. Hayes, Lisbeth Tranebjaerg, Victor S.C. Fung, The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Movement Disorders. ,vol. 27, pp. 1034- 1040 ,(2012) , 10.1002/MDS.25033
John G.L Morris, Stacey K. Jankelowitz, Victor S.C. Fung, Paul D. Clouston, Michael W. Hayes, Padraic Grattan-Smith, Athetosis I: Historical considerations Movement Disorders. ,vol. 17, pp. 1278- 1280 ,(2002) , 10.1002/MDS.10267