Neurological Sciences

, Volume 40, Issue 1, pp 89–95 | Cite as

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 FaddaEmail author
  • Alfredo Berardelli
Original Article



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.


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.


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.


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.


Focal dystonia Pseudodystonia Diagnosis 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2018

Authors and Affiliations

  • Giovanni Defazio
    • 1
  • Alberto Albanese
    • 2
  • Roberta Pellicciari
    • 3
  • Cesa L. Scaglione
    • 4
  • Marcello Esposito
    • 5
  • Francesca Morgante
    • 6
  • Giovanni Abbruzzese
    • 7
  • Anna R. Bentivoglio
    • 8
  • Francesco Bono
    • 9
  • Mario Coletti Moja
    • 10
  • Giovanni Fabbrini
    • 11
  • Paolo Girlanda
    • 6
  • Leonardo Lopiano
    • 12
  • Claudio Pacchetti
    • 13
  • Marcello Romano
    • 14
  • Laura Fadda
    • 1
    Email author
  • Alfredo Berardelli
    • 11
  1. 1.Department of Medical Sciences and Public Health, Neurology UnitUniversity of CagliariCagliariItaly
  2. 2.Department of NeurologyIstituto Clinico HumanitasMilanItaly
  3. 3.Department of Basic Science, Neuroscience and Sense OrgansAldo Moro University of BariBariItaly
  4. 4.IRCCS Institute of Neurological SciencesBolognaItaly
  5. 5.Department of Neurosciences, Reproductive Science and DentistryFederico II University of NaplesNaplesItaly
  6. 6.Department of NeuroscienceUniversity of MessinaMessinaItaly
  7. 7.Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health and Department of Experimental Medicine, Section of Human PhysiologyUniversity of GenoaGenoaItaly
  8. 8.Center for Parkinson’s Disease and Extrapyramidal Disorders, Movement Disorders Unit, Institute of NeurologyCatholic UniversityRomeItaly
  9. 9.Neurology Unit, Department of Medical and Surgical SciencesMagna Graecia University of CatanzaroCatanzaroItaly
  10. 10.Neurology UnitUmberto I HospitalTurinItaly
  11. 11.Department of Neurology and PsychiatrySapienza University of Rome, and Neuromed Institute IRCCSPozzilliItaly
  12. 12.Department of Neuroscience ”Rita Levi Montalcini”University of TurinTurinItaly
  13. 13.Parkinson’s Disease and Movement Disorders UnitIRCCS Neurological National Institute C. MondinoPaviaItaly
  14. 14.Neurology UnitVilla Sofia HospitalPalermoItaly

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