Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia
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.
KeywordsFocal dystonia Pseudodystonia Diagnosis
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
- 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
- 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
- 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
- 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
- 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