Phenomenology and classification of dystonia: A consensus update

被引:1691
作者
Albanese, Alberto [1 ,2 ]
Bhatia, Kailash [3 ]
Bressman, Susan B. [4 ,5 ,6 ,7 ]
DeLong, Mahlon R. [8 ]
Fahn, Stanley [9 ]
Fung, Victor S. C. [10 ,11 ]
Hallett, Mark [12 ]
Jankovic, Joseph [13 ,14 ]
Jinnah, Hyder A. [8 ,15 ,16 ]
Klein, Christine [17 ]
Lang, Anthony E. [18 ,19 ,20 ]
Mink, Jonathan W. [21 ,22 ,23 ,24 ]
Teller, Jan K. [25 ]
机构
[1] Univ Cattolica Sacro Cuore, Dept Neurol, I-20123 Milan, Italy
[2] Ist Nazl Neurol Carlo Besta, Dept Neurol, Milan, Italy
[3] UCL, Sobell Dept Motor Neurosci & Movement Disorders, Inst Neurol, London, England
[4] Beth Israel Deaconess Med Ctr, Dept Neurol, New York, NY 10003 USA
[5] Albert Einstein Coll Med, Dept Neurol, New York, NY USA
[6] Beth Israel Deaconess Med Ctr, Dept Neurol, Bronx, NY USA
[7] Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA
[8] Emory Univ, Dept Neurol, Atlanta, GA 30322 USA
[9] Columbia Univ, Dept Neurol, New York, NY USA
[10] Univ Sydney, Movement Disorders Unit, Dept Neurol, Westmead Hosp, Sydney, NSW 2006, Australia
[11] Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
[12] NINDS, Human Motor Control Sect, NIH, Bethesda, MD 20892 USA
[13] Baylor Coll Med, Parkinsons Dis Ctr, Houston, TX 77030 USA
[14] Baylor Coll Med, Dept Neurol, Movement Disorders Clin, Houston, TX 77030 USA
[15] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA
[16] Emory Univ, Dept Pediat, Atlanta, GA 30322 USA
[17] Med Univ Lubeck, Sect Clin & Mol Neurogenet, Dept Neurol, D-23538 Lubeck, Germany
[18] Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON M5T 2S8, Canada
[19] Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, Toronto, ON M5T 2S8, Canada
[20] Univ Toronto, Toronto, ON, Canada
[21] Univ Rochester, Dept Neurol, Rochester, NY USA
[22] Univ Rochester, Dept Neurobiol & Anat, Rochester, NY USA
[23] Univ Rochester, Dept Brain & Cognit Sci, Rochester, NY USA
[24] Univ Rochester, Dept Pediat, Rochester, NY USA
[25] Dystonia Med Res Fdn, Chicago, IL USA
关键词
dystonia; classification; definition; DYT1; PHENOTYPE; DIAGNOSIS; BLEPHAROSPASM; GUIDELINES; DISEASE;
D O I
10.1002/mds.25475
中图分类号
R74 [神经病学与精神病学];
学科分类号
100204 [神经病学];
摘要
This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. (C) 2013 Movement Disorder Society
引用
收藏
页码:863 / 873
页数:11
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