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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

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.

Keywords

Focal dystonia Pseudodystonia Diagnosis 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK (2013) Phenomenology and classification of dystonia: a consensus update. Mov Disord 28:863–873CrossRefGoogle Scholar
  2. 2.
    Jinnah HA, Berardelli A, Comella C, Defazio G, Delong MR, Factor S, Galpern WR, Hallett M, Ludlow CL, Perlmutter JS, Rosen AR, Investigators DC (2013) The focal dystonias: current views and challenges for future research. Mov Disord 28:926–943CrossRefGoogle Scholar
  3. 3.
    Martino D, Macerollo A, Abbruzzese G, Bentivoglio AR, Berardelli A, Esposito M, Fabbrini G, Girlanda P, Guidubaldi A, Liguori R, Liuzzi D, Marinelli L, Morgante F, Sabetta A, Santoro L, Defazio G (2010) Lower limb involvement in adult-onset primary dystonia: frequency and clinical features. Eur J Neurol 17:242–246CrossRefGoogle Scholar
  4. 4.
    Macerollo A, Superbo M, Gigante AF, Livrea P, Defazio G (2015 Mar) Diagnostic delay in adult-onset dystonia: data from an Italian movement disorder center. J Clin Neurosci 22:608–610CrossRefGoogle Scholar
  5. 5.
    Defazio G, Esposito M, Abbruzzese G, Scaglione CL, Fabbrini G, Ferrazzano G, Peluso S, Pellicciari R, Gigante AF, Cossu G, Arca R, Avanzino L, Bono F, Mazza MR, Bertolasi L, Bacchin R, Eleopra R, Lettieri C, Morgante F, Altavista MC, Polidori L, Liguori R, Misceo S, Squintani G, Tinazzi M, Ceravolo R, Unti E, Magistrelli L, Coletti Moja M, Modugno N, Petracca M, Tambasco N, Cotelli MS, Aguggia M, Pisani A, Romano M, Zibetti M, Bentivoglio AR, Albanese A, Girlanda P, Berardelli A (2017 May) The Italian dystonia registry: rationale, design and preliminary findings. Neurol Sci 38:819–825CrossRefGoogle Scholar
  6. 6.
    Beghi E, Regio V, Papantonio A, Bentivoglio AR, Fasano A, Fogli D, Giordano L, Piolti R, Rinaldi G, Simone P, Specchio LM, Tonali P, Torelli P, Zarrelli M, Messina P (2014) Reliability of clinical diagnosis of dystonia. Neuroepidemiology 43:213–219CrossRefGoogle Scholar
  7. 7.
    Logroscino G, Livrea P, Anaclerio D, Aniello MS, Benedetto G, Cazzato G, Giampietro L, Manobianca G, Marra M, Martino D, Pannarale P, Pulimeno R, Santamato V, Defazio G (2003) Agreement among neurologists on the clinical diagnosis of dystonia at different body sites. J Neurol Neurosurg Psychiatry 74:348–350CrossRefGoogle Scholar
  8. 8.
    Albanese A (2017) How many dystonias? Clinical evidence. Front Neurol 8:18PubMedPubMedCentralGoogle Scholar
  9. 9.
    Defazio G, Hallett M, Jinnah HA, Berardelli A (2013) Development and validation of a clinical guideline for diagnosing blepharospasm. Neurology 81:236–240CrossRefGoogle Scholar
  10. 10.
    Ludlow C, Adler C, Berke G et al (2008) Research priorities in spasmodic dysphonia. Otolaryngol Head Neck Surg 139:495–505CrossRefGoogle Scholar
  11. 11.
    Ramos VF, Karp BI, Hallett M (2014) Tricks in dystonia: ordering the complexity. J Neurol Neurosurg Psychiatry 85:987–993CrossRefGoogle Scholar
  12. 12.
    Bagella CF, Romito LM, Scaioli V, Elia AE (2017) Sensory trick in task-specific tremor. Neurol Sci 38:1341–1342CrossRefGoogle Scholar
  13. 13.
    Defazio G, Abbruzzese G, Girlanda P, Buccafusca M, Currà A, Marchese R, Martino D, Masi G, Mazzella L, Vacca L, Livrea P, Berardelli A (2003) Primary cervical dystonia and scoliosis: a multicenter case-control study. Neurology 60:1012–1015CrossRefGoogle Scholar
  14. 14.
    Christie C, Rodríguez-Quiroga SA, Arakaki T, Rey RD, Garretto NS (2014) Hemimasticatory spasm: report of a case and review of the literature. Tremor Other Hyperkinet Mov (N Y) 4:21Google Scholar
  15. 15.
    Thompson PD, Obeso JA, Delgado G, Gallego J, Marsden CD (1986) Focal dystonia of the jaw and the differential diagnosis of unilateral jaw and masticatory spasm. J Neurol Neurosurg Psychiatry 49:651–656CrossRefGoogle Scholar
  16. 16.
    Yap AU, Chua AP (2016) Sleep bruxism: current knowledge and contemporary management. J Conserv Dent 19:383–389CrossRefGoogle Scholar
  17. 17.
    Aggarwal A, Warren JE, Warren JD, Thompson PD (2009) Facial reflex hyperexcitability in geniospasm suggests a brainstem origin. Mov Disord 24:783–784CrossRefGoogle Scholar
  18. 18.
    Jarman PR, Wood NW, Davis MT, Davis PV, Bhatia KP, Marsden CD, Davis MB (1997) Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity. Am J Hum Genet 61:928–933CrossRefGoogle Scholar
  19. 19.
    Lohmann K, Klein C (2017) Update on the genetics of dystonia. Curr Neurol Neurosci Rep 17:26CrossRefGoogle Scholar
  20. 20.
    Sarva H, Deik A, Ullah A, Severt WL (2016) Clinical spectrum of stiff person syndrome: a review of recent reports. Tremor Other Hyperkinet Mov 6:340Google Scholar
  21. 21.
    Edwards MJ, Bhatia KP (2012) Functional (psychogenic) movement disorders: merging mind and brain. Lancet Neurol 11(3):250–260CrossRefGoogle Scholar

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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