Literature DB >> 22430107

Diagnosis of dystonic syndromes--a new eight-question approach.

Kelly L Bertram1, David R Williams.   

Abstract

Dystonia is a syndrome of abnormal involuntary movements that are repetitive, twisting or patterned, and can result in abnormal postures. Dystonia may be generalized or focal, and can occur as a primary syndrome or secondary to another disease--over 50 clinical conditions are reported to cause dystonia. Classification of dystonia is based on genetic background, anatomical distribution, age at onset, and neurodegenerative processes. In many cases, manifestations of dystonia are identical regardless of the aetiology, which makes accurate diagnosis challenging, if not impossible, without additional investigations. Exhaustive lists of the causes of dystonia are not practical to aid clinicians when attempting to determine if a hyperkinetic movement can be diagnosed as dystonic. The existing diagnostic algorithms for dystonic syndromes rely on the clinician's experience, without a streamlined diagnostic pathway. Non-specialist clinicians and neurologists may, therefore, find diagnosis of dystonic syndromes difficult. In this Review, an eight-question approach is proposed, with a summary of the evidence for investigations that enable successful diagnosis of dystonic syndromes. The aim of this approach is to inform both specialists and general neurologists on the appropriate diagnostic test for each patient who presents with a possible dystonic syndrome.

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Year:  2012        PMID: 22430107     DOI: 10.1038/nrneurol.2012.39

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN: 1759-4758            Impact factor:   42.937


  89 in total

Review 1.  Dystonia: a disorder of motor programming or motor execution?

Authors:  Petr Kanovský
Journal:  Mov Disord       Date:  2002-11       Impact factor: 10.338

2.  Movement disorders associated with hyperthyroidism: expanding the phenotype.

Authors:  Eng-King Tan; Ling-Ling Chan
Journal:  Mov Disord       Date:  2006-07       Impact factor: 10.338

3.  Wilson disease in septuagenarian siblings: Raising the bar for diagnosis.

Authors:  Aftab Ala; Jimo Borjigin; Arnold Rochwarger; Michael Schilsky
Journal:  Hepatology       Date:  2005-03       Impact factor: 17.425

Review 4.  The diagnosis of dystonia.

Authors:  Howard L Geyer; Susan B Bressman
Journal:  Lancet Neurol       Date:  2006-09       Impact factor: 44.182

5.  Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

Authors:  A Schiller; R A Wevers; G C H Steenbergen; N Blau; H H Jung
Journal:  Neurology       Date:  2004-10-26       Impact factor: 9.910

6.  Idiopathic focal dystonia: a disorder of muscle spindle afferent processing?

Authors:  R A Grünewald; Y Yoneda; J M Shipman; H J Sagar
Journal:  Brain       Date:  1997-12       Impact factor: 13.501

7.  Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

Authors:  Susan B Bressman; Deborah Raymond; Tania Fuchs; Gary A Heiman; Laurie J Ozelius; Rachel Saunders-Pullman
Journal:  Lancet Neurol       Date:  2009-04-01       Impact factor: 44.182

Review 8.  Psychogenic movement disorders.

Authors:  Amitabh Gupta; Anthony E Lang
Journal:  Curr Opin Neurol       Date:  2009-08       Impact factor: 5.710

9.  Is this dystonia?

Authors:  Alberto Albanese; Stefania Lalli
Journal:  Mov Disord       Date:  2009-09-15       Impact factor: 10.338

10.  Focal hand dystonia secondary to Basal Ganglia germinoma.

Authors:  Joong-Seok Kim; Soo-Jeong Han; Woojun Kim; Bum-Soo Kim; Yeong-In Kim; Kwang-Soo Lee
Journal:  J Clin Neurol       Date:  2007-09-20       Impact factor: 3.077

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  4 in total

Review 1.  Engineering animal models of dystonia.

Authors:  Janneth Oleas; Fumiaki Yokoi; Mark P DeAndrade; Antonio Pisani; Yuqing Li
Journal:  Mov Disord       Date:  2013-06-15       Impact factor: 10.338

2.  Striatal dopamine D1-like receptor binding is unchanged in primary focal dystonia.

Authors:  Morvarid Karimi; Stephen M Moerlein; Tom O Videen; Yi Su; Hubert P Flores; Joel S Perlmutter
Journal:  Mov Disord       Date:  2013-10-21       Impact factor: 10.338

3.  A Beautician's Dystonia: Long-Lasting Effect of Botulinum Toxin.

Authors:  Siria Di Martino; Stefania Dalise; Giuseppe Lamola; Martina Venturi; Bruno Rossi; Carmelo Chisari
Journal:  Case Rep Neurol Med       Date:  2014-07-16

4.  Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders.

Authors:  Martje E van Egmond; Hendriekje Eggink; Anouk Kuiper; Deborah A Sival; Corien C Verschuuren-Bemelmans; Marina A J Tijssen; Tom J de Koning
Journal:  J Clin Mov Disord       Date:  2018-04-06
  4 in total

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