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Validation of a guideline to reduce variability in diagnosing cervical dystonia

BACKGROUND: Cervical dystonia is characterized by a variable pattern of neck muscle involvement. Due to the lack of a diagnostic test, cervical dystonia diagnosis is based on clinical examination and is therefore subjective. The present work was designed to provide practical guidance for clinicians...

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Autores principales: Defazio, Giovanni, Belvisi, Daniele, Comella, Cynthia, Hallett, Mark, Jinnah, Hyder A., Cimino, Paola, Latorre, Anna, Mascia, Marcello Mario, Rocchi, Lorenzo, Gigante, Angelo Fabio, Ercoli, Tommaso, Berardelli, Alfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129917/
https://www.ncbi.nlm.nih.gov/pubmed/36790546
http://dx.doi.org/10.1007/s00415-023-11585-6
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author Defazio, Giovanni
Belvisi, Daniele
Comella, Cynthia
Hallett, Mark
Jinnah, Hyder A.
Cimino, Paola
Latorre, Anna
Mascia, Marcello Mario
Rocchi, Lorenzo
Gigante, Angelo Fabio
Ercoli, Tommaso
Berardelli, Alfredo
author_facet Defazio, Giovanni
Belvisi, Daniele
Comella, Cynthia
Hallett, Mark
Jinnah, Hyder A.
Cimino, Paola
Latorre, Anna
Mascia, Marcello Mario
Rocchi, Lorenzo
Gigante, Angelo Fabio
Ercoli, Tommaso
Berardelli, Alfredo
author_sort Defazio, Giovanni
collection PubMed
description BACKGROUND: Cervical dystonia is characterized by a variable pattern of neck muscle involvement. Due to the lack of a diagnostic test, cervical dystonia diagnosis is based on clinical examination and is therefore subjective. The present work was designed to provide practical guidance for clinicians in confirming or refuting suspected cervical dystonia. METHODS: Participants were video recorded according to a standardized protocol to assess 6 main clinical features possibly contributing to cervical dystonia diagnosis: presence of repetitive, patterned head/neck movements/postures inducing head/neck deviation from neutral position (item 1); sensory trick (item 2); and red flags related to conditions mimicking dystonia that should be absent in dystonia (items 3–6). Inter-/intra-rater agreement among three independent raters was assessed by k statistics. To estimate sensitivity and specificity, the gold standard was cervical dystonia diagnosis reviewed at each site by independent senior neurologists. RESULTS: The validation sample included 43 idiopathic cervical dystonia patients and 41 control subjects (12 normal subjects, 6 patients with isolated head tremor, 4 with chorea, 6 with tics, 4 with head ptosis due to myasthenia or amyotrophic lateral sclerosis, 7 with orthopedic/rheumatologic neck diseases, and 2 with ocular torticollis). The best combination of sensitivity and specificity was observed considering all the items except for an item related to capability to voluntarily suppress spasms (sensitivity: 96.1%; specificity: 81%). CONCLUSIONS: An accurate diagnosis of cervical dystonia can be achieved if, in addition to the core motor features, we also consider some clinical features related to dystonia mimics that should be absent in dystonia. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00415-023-11585-6.
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spelling pubmed-101299172023-04-27 Validation of a guideline to reduce variability in diagnosing cervical dystonia Defazio, Giovanni Belvisi, Daniele Comella, Cynthia Hallett, Mark Jinnah, Hyder A. Cimino, Paola Latorre, Anna Mascia, Marcello Mario Rocchi, Lorenzo Gigante, Angelo Fabio Ercoli, Tommaso Berardelli, Alfredo J Neurol Original Communication BACKGROUND: Cervical dystonia is characterized by a variable pattern of neck muscle involvement. Due to the lack of a diagnostic test, cervical dystonia diagnosis is based on clinical examination and is therefore subjective. The present work was designed to provide practical guidance for clinicians in confirming or refuting suspected cervical dystonia. METHODS: Participants were video recorded according to a standardized protocol to assess 6 main clinical features possibly contributing to cervical dystonia diagnosis: presence of repetitive, patterned head/neck movements/postures inducing head/neck deviation from neutral position (item 1); sensory trick (item 2); and red flags related to conditions mimicking dystonia that should be absent in dystonia (items 3–6). Inter-/intra-rater agreement among three independent raters was assessed by k statistics. To estimate sensitivity and specificity, the gold standard was cervical dystonia diagnosis reviewed at each site by independent senior neurologists. RESULTS: The validation sample included 43 idiopathic cervical dystonia patients and 41 control subjects (12 normal subjects, 6 patients with isolated head tremor, 4 with chorea, 6 with tics, 4 with head ptosis due to myasthenia or amyotrophic lateral sclerosis, 7 with orthopedic/rheumatologic neck diseases, and 2 with ocular torticollis). The best combination of sensitivity and specificity was observed considering all the items except for an item related to capability to voluntarily suppress spasms (sensitivity: 96.1%; specificity: 81%). CONCLUSIONS: An accurate diagnosis of cervical dystonia can be achieved if, in addition to the core motor features, we also consider some clinical features related to dystonia mimics that should be absent in dystonia. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00415-023-11585-6. Springer Berlin Heidelberg 2023-02-15 2023 /pmc/articles/PMC10129917/ /pubmed/36790546 http://dx.doi.org/10.1007/s00415-023-11585-6 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Communication
Defazio, Giovanni
Belvisi, Daniele
Comella, Cynthia
Hallett, Mark
Jinnah, Hyder A.
Cimino, Paola
Latorre, Anna
Mascia, Marcello Mario
Rocchi, Lorenzo
Gigante, Angelo Fabio
Ercoli, Tommaso
Berardelli, Alfredo
Validation of a guideline to reduce variability in diagnosing cervical dystonia
title Validation of a guideline to reduce variability in diagnosing cervical dystonia
title_full Validation of a guideline to reduce variability in diagnosing cervical dystonia
title_fullStr Validation of a guideline to reduce variability in diagnosing cervical dystonia
title_full_unstemmed Validation of a guideline to reduce variability in diagnosing cervical dystonia
title_short Validation of a guideline to reduce variability in diagnosing cervical dystonia
title_sort validation of a guideline to reduce variability in diagnosing cervical dystonia
topic Original Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129917/
https://www.ncbi.nlm.nih.gov/pubmed/36790546
http://dx.doi.org/10.1007/s00415-023-11585-6
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