Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia

Giovanni Defazio, Alberto Albanese, Roberta Pellicciari, Cesa L Scaglione, Marcello Esposito, Francesca Morgante, Giovanni Abbruzzese, Anna R Bentivoglio, Francesco Bono, Mario Coletti Moja, Giovanni Fabbrini, Paolo Girlanda, Leonardo Lopiano, Claudio Pacchetti, Marcello Romano, Laura Fadda, Alfredo Berardelli

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia.

METHODS: A panel of four neurologists generated a list of clinical items related to the motor phenomenology of the examined focal dystonias and a list of clinical features characterizing neurological/non-neurological conditions mimicking dystonia. Thereafter, ten additional expert neurologists assessed the diagnostic relevance of the selected features and the content validity ratio was calculated. The clinical features reaching a content validity ratio > 0.5 contributed to the final recommendations.

RESULTS: The recommendations retained patterned and repetitive movements/postures as the core feature of dystonia in different body parts. If present, a sensory trick confirmed diagnosis of dystonia. In the patients who did not manifest sensory trick, active exclusion of clinical features related to conditions mimicking dystonia (features that would be expected to be absent in dystonia) would be necessary for dystonia to be diagnosed.

DISCUSSION: Although reliability, sensitivity, and specificity of the recommendations are yet to be demonstrated, information from the present study would hopefully facilitate diagnostic approach to focal dystonias in the clinical practice and would be the basis for future validated diagnostic guidelines.

Original languageEnglish
JournalNeurological Sciences
DOIs
Publication statusE-pub ahead of print - 2018

Fingerprint

Torticollis
Dystonia
Dystonic Disorders
Blepharospasm
Guidelines
Movement Disorders
Posture
Human Body
Sensitivity and Specificity

Cite this

Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia. / Defazio, Giovanni; Albanese, Alberto; Pellicciari, Roberta; Scaglione, Cesa L; Esposito, Marcello; Morgante, Francesca; Abbruzzese, Giovanni; Bentivoglio, Anna R; Bono, Francesco; Coletti Moja, Mario; Fabbrini, Giovanni; Girlanda, Paolo; Lopiano, Leonardo; Pacchetti, Claudio; Romano, Marcello; Fadda, Laura; Berardelli, Alfredo.

In: Neurological Sciences, 2018.

Research output: Contribution to journalArticle

Defazio, G, Albanese, A, Pellicciari, R, Scaglione, CL, Esposito, M, Morgante, F, Abbruzzese, G, Bentivoglio, AR, Bono, F, Coletti Moja, M, Fabbrini, G, Girlanda, P, Lopiano, L, Pacchetti, C, Romano, M, Fadda, L & Berardelli, A 2018, 'Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia', Neurological Sciences. https://doi.org/10.1007/s10072-018-3586-9
Defazio, Giovanni ; Albanese, Alberto ; Pellicciari, Roberta ; Scaglione, Cesa L ; Esposito, Marcello ; Morgante, Francesca ; Abbruzzese, Giovanni ; Bentivoglio, Anna R ; Bono, Francesco ; Coletti Moja, Mario ; Fabbrini, Giovanni ; Girlanda, Paolo ; Lopiano, Leonardo ; Pacchetti, Claudio ; Romano, Marcello ; Fadda, Laura ; Berardelli, Alfredo. / Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia. In: Neurological Sciences. 2018.
@article{6b90377e866443ef8cc6dc8632326720,
title = "Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia",
abstract = "BACKGROUND: Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia.METHODS: A panel of four neurologists generated a list of clinical items related to the motor phenomenology of the examined focal dystonias and a list of clinical features characterizing neurological/non-neurological conditions mimicking dystonia. Thereafter, ten additional expert neurologists assessed the diagnostic relevance of the selected features and the content validity ratio was calculated. The clinical features reaching a content validity ratio > 0.5 contributed to the final recommendations.RESULTS: The recommendations retained patterned and repetitive movements/postures as the core feature of dystonia in different body parts. If present, a sensory trick confirmed diagnosis of dystonia. In the patients who did not manifest sensory trick, active exclusion of clinical features related to conditions mimicking dystonia (features that would be expected to be absent in dystonia) would be necessary for dystonia to be diagnosed.DISCUSSION: Although reliability, sensitivity, and specificity of the recommendations are yet to be demonstrated, information from the present study would hopefully facilitate diagnostic approach to focal dystonias in the clinical practice and would be the basis for future validated diagnostic guidelines.",
author = "Giovanni Defazio and Alberto Albanese and Roberta Pellicciari and Scaglione, {Cesa L} and Marcello Esposito and Francesca Morgante and Giovanni Abbruzzese and Bentivoglio, {Anna R} and Francesco Bono and {Coletti Moja}, Mario and Giovanni Fabbrini and Paolo Girlanda and Leonardo Lopiano and Claudio Pacchetti and Marcello Romano and Laura Fadda and Alfredo Berardelli",
year = "2018",
doi = "10.1007/s10072-018-3586-9",
language = "English",
journal = "Neurological Sciences",
issn = "1590-1874",
publisher = "Springer-Verlag Italia s.r.l.",

}

TY - JOUR

T1 - Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia

AU - Defazio, Giovanni

AU - Albanese, Alberto

AU - Pellicciari, Roberta

AU - Scaglione, Cesa L

AU - Esposito, Marcello

AU - Morgante, Francesca

AU - Abbruzzese, Giovanni

AU - Bentivoglio, Anna R

AU - Bono, Francesco

AU - Coletti Moja, Mario

AU - Fabbrini, Giovanni

AU - Girlanda, Paolo

AU - Lopiano, Leonardo

AU - Pacchetti, Claudio

AU - Romano, Marcello

AU - Fadda, Laura

AU - Berardelli, Alfredo

PY - 2018

Y1 - 2018

N2 - BACKGROUND: Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia.METHODS: A panel of four neurologists generated a list of clinical items related to the motor phenomenology of the examined focal dystonias and a list of clinical features characterizing neurological/non-neurological conditions mimicking dystonia. Thereafter, ten additional expert neurologists assessed the diagnostic relevance of the selected features and the content validity ratio was calculated. The clinical features reaching a content validity ratio > 0.5 contributed to the final recommendations.RESULTS: The recommendations retained patterned and repetitive movements/postures as the core feature of dystonia in different body parts. If present, a sensory trick confirmed diagnosis of dystonia. In the patients who did not manifest sensory trick, active exclusion of clinical features related to conditions mimicking dystonia (features that would be expected to be absent in dystonia) would be necessary for dystonia to be diagnosed.DISCUSSION: Although reliability, sensitivity, and specificity of the recommendations are yet to be demonstrated, information from the present study would hopefully facilitate diagnostic approach to focal dystonias in the clinical practice and would be the basis for future validated diagnostic guidelines.

AB - BACKGROUND: Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia.METHODS: A panel of four neurologists generated a list of clinical items related to the motor phenomenology of the examined focal dystonias and a list of clinical features characterizing neurological/non-neurological conditions mimicking dystonia. Thereafter, ten additional expert neurologists assessed the diagnostic relevance of the selected features and the content validity ratio was calculated. The clinical features reaching a content validity ratio > 0.5 contributed to the final recommendations.RESULTS: The recommendations retained patterned and repetitive movements/postures as the core feature of dystonia in different body parts. If present, a sensory trick confirmed diagnosis of dystonia. In the patients who did not manifest sensory trick, active exclusion of clinical features related to conditions mimicking dystonia (features that would be expected to be absent in dystonia) would be necessary for dystonia to be diagnosed.DISCUSSION: Although reliability, sensitivity, and specificity of the recommendations are yet to be demonstrated, information from the present study would hopefully facilitate diagnostic approach to focal dystonias in the clinical practice and would be the basis for future validated diagnostic guidelines.

U2 - 10.1007/s10072-018-3586-9

DO - 10.1007/s10072-018-3586-9

M3 - Article

C2 - 30269178

JO - Neurological Sciences

JF - Neurological Sciences

SN - 1590-1874

ER -