Literature DB >> 22166421

Dystonia: phenomenology.

Mark S LeDoux1.   

Abstract

In 1984, dystonia was defined by an ad hoc committee of the Dystonia Medical Research Foundation as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements, or abnormal postures. In 2011, dystonia remains a purely clinical diagnosis. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Primary dystonias are typically mobile and may show task specificity. Fixed dystonias are often psychogenic or associated with complex regional pain syndrome. Fixed dystonia may also be the terminal consequence of long-standing, inadequately-treated, severe appendicular or cervical dystonia. The vast majority of primary dystonias have their onset in adults. Late-onset, primary, focal dystonia, particularly blepharospasm, may spread to affect other anatomical segments. Patients with focal dystonia may also exhibit spontaneous remissions that last for years. Although sensory tricks are commonly reported by patients with primary dystonia, they have also been described in subjects with secondary dystonia. Another important sensory aspect of dystonia is pain which is relatively common in cervical dystonia but also reported by many patients with masticatory dystonia, hand-forearm dystonia and blepharospasm. In conclusion, "dystonia" can be used to delimit a clinical sign or loosely define a neuropsychiatric sensorimotor syndrome.
Copyright © 2011 Elsevier Ltd. All rights reserved.

Entities:  

Mesh:

Year:  2012        PMID: 22166421      PMCID: PMC4869992          DOI: 10.1016/S1353-8020(11)70050-5

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


  40 in total

1.  Arm tremor in cervical dystonia--is it a manifestation of dystonia or essential tremor?

Authors:  Sarah Schiebler; Alexander Schmidt; Simone Zittel; Tobias Bäumer; Christian Gerloff; Christine Klein; Alexander Münchau
Journal:  Mov Disord       Date:  2011-07-06       Impact factor: 10.338

2.  Idiopathic cervical dystonia: clinical characteristics.

Authors:  J Chan; M F Brin; S Fahn
Journal:  Mov Disord       Date:  1991       Impact factor: 10.338

3.  A genetic study of idiopathic focal dystonias.

Authors:  H M Waddy; N A Fletcher; A E Harding; C D Marsden
Journal:  Ann Neurol       Date:  1991-03       Impact factor: 10.422

4.  Geste antagonistes in idiopathic lower cranial dystonia.

Authors:  Steven E Lo; Michael Gelb; Steven J Frucht
Journal:  Mov Disord       Date:  2007-05-15       Impact factor: 10.338

5.  Novel THAP1 sequence variants in primary dystonia.

Authors:  J Xiao; Y Zhao; R W Bastian; J S Perlmutter; B A Racette; S D Tabbal; M Karimi; R C Paniello; Z K Wszolek; R J Uitti; J A Van Gerpen; D K Simon; D Tarsy; P Hedera; D D Truong; K P Frei; S Dev Batish; A Blitzer; R F Pfeiffer; S Gong; M S LeDoux
Journal:  Neurology       Date:  2010-01-19       Impact factor: 9.910

6.  Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.

Authors:  Deborah Raymond; Rachel Saunders-Pullman; Patricia de Carvalho Aguiar; Birgitt Schule; Norman Kock; Jennifer Friedman; Juliette Harris; Blair Ford; Steven Frucht; Gary A Heiman; Danna Jennings; Dana Doheny; Mitchell F Brin; Deborah de Leon Brin; Trisha Multhaupt-Buell; Anthony E Lang; Roger Kurlan; Christine Klein; Laurie Ozelius; Susan Bressman
Journal:  Mov Disord       Date:  2008-03-15       Impact factor: 10.338

7.  Mental rotation of body parts and sensory temporal discrimination in fixed dystonia.

Authors:  Petra Katschnig; Mark J Edwards; Petra Schwingenschuh; Maria Aguirregomozcorta; Georg Kägi; John C Rothwell; Kailash P Bhatia
Journal:  Mov Disord       Date:  2010-06-15       Impact factor: 10.338

8.  Blepharospasm: a review of 264 patients.

Authors:  F Grandas; J Elston; N Quinn; C D Marsden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-06       Impact factor: 10.154

9.  Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia.

Authors:  G Defazio; P Livrea; G Guanti; V Lepore; E Ferrari
Journal:  Eur Neurol       Date:  1993       Impact factor: 1.710

10.  Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Authors:  V Bonifati; C F Rohé; G J Breedveld; E Fabrizio; M De Mari; C Tassorelli; A Tavella; R Marconi; D J Nicholl; H F Chien; E Fincati; G Abbruzzese; P Marini; A De Gaetano; M W Horstink; J A Maat-Kievit; C Sampaio; A Antonini; F Stocchi; P Montagna; V Toni; M Guidi; A Dalla Libera; M Tinazzi; F De Pandis; G Fabbrini; S Goldwurm; A de Klein; E Barbosa; L Lopiano; E Martignoni; P Lamberti; N Vanacore; G Meco; B A Oostra
Journal:  Neurology       Date:  2005-07-12       Impact factor: 9.910

View more
  14 in total

Review 1.  Recent advances in the genetics of dystonia.

Authors:  Jianfeng Xiao; Satya R Vemula; Mark S LeDoux
Journal:  Curr Neurol Neurosci Rep       Date:  2014-08       Impact factor: 5.081

2.  Motor phenotypes and molecular networks associated with germline deficiency of Ciz1.

Authors:  Jianfeng Xiao; Satya R Vemula; Yi Xue; Mohammad M Khan; Korah P Kuruvilla; Esther M Marquez-Lona; Madison R Cobb; Mark S LeDoux
Journal:  Exp Neurol       Date:  2016-05-07       Impact factor: 5.330

Review 3.  Tricks in dystonia: ordering the complexity.

Authors:  Vesper Fe Marie Llaneza Ramos; Barbara I Karp; Mark Hallett
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-01-31       Impact factor: 10.154

4.  Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.

Authors:  Shinsuke Fujioka; Audrey J Strongosky; Anhar Hassan; Rosa Rademakers; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2015-01-08       Impact factor: 4.891

5.  Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Authors:  Satya R Vemula; Andreas Puschmann; Jianfeng Xiao; Yu Zhao; Monika Rudzińska; Karen P Frei; Daniel D Truong; Zbigniew K Wszolek; Mark S LeDoux
Journal:  Hum Mol Genet       Date:  2013-02-27       Impact factor: 6.150

Review 6.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

7.  Alleviating manoeuvres (sensory tricks) in cervical dystonia.

Authors:  Neepa Patel; John Hanfelt; Laura Marsh; Joseph Jankovic
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-05-14       Impact factor: 10.154

8.  Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.

Authors:  Joana Martins; Alejandra Darling; Cristina Garrido; Carmen Espinós; María José Martí; Belen Pérez Dueñas; Teresa Temudo
Journal:  Mov Disord Clin Pract       Date:  2019-10-25

9.  Genetic variants in diseases of the extrapyramidal system.

Authors:  Anna Oczkowska; Wojciech Kozubski; Margarita Lianeri; Jolanta Dorszewska
Journal:  Curr Genomics       Date:  2014-02       Impact factor: 2.236

10.  How to tackle tremor - systematic review of the literature and diagnostic work-up.

Authors:  A W G Buijink; M F Contarino; J H T M Koelman; J D Speelman; A F van Rootselaar
Journal:  Front Neurol       Date:  2012-10-23       Impact factor: 4.003

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.