Giovanni Defazio1, Alberto Albanese2, Roberta Pellicciari3, Cesa L Scaglione4, Marcello Esposito5, Francesca Morgante6, Giovanni Abbruzzese7, Anna R Bentivoglio8, Francesco Bono9, Mario Coletti Moja10, Giovanni Fabbrini11, Paolo Girlanda6, Leonardo Lopiano12, Claudio Pacchetti13, Marcello Romano14, Laura Fadda15, Alfredo Berardelli11. 1. Department of Medical Sciences and Public Health, Neurology Unit, University of Cagliari, Cagliari, Italy. 2. Department of Neurology, Istituto Clinico Humanitas, Rozzano, Milan, Italy. 3. Department of Basic Science, Neuroscience and Sense Organs, Aldo Moro University of Bari, Bari, Italy. 4. IRCCS Institute of Neurological Sciences, Bologna, Italy. 5. Department of Neurosciences, Reproductive Science and Dentistry, Federico II University of Naples, Naples, Italy. 6. Department of Neuroscience, University of Messina, Messina, Italy. 7. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health and Department of Experimental Medicine, Section of Human Physiology, University of Genoa, Genoa, Italy. 8. Center for Parkinson's Disease and Extrapyramidal Disorders, Movement Disorders Unit, Institute of Neurology, Catholic University, Rome, Italy. 9. Neurology Unit, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy. 10. Neurology Unit, Umberto I Hospital, Turin, Italy. 11. Department of Neurology and Psychiatry, Sapienza University of Rome, and Neuromed Institute IRCCS, Pozzilli, Italy. 12. Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy. 13. Parkinson's Disease and Movement Disorders Unit, IRCCS Neurological National Institute C. Mondino, Pavia, Italy. 14. Neurology Unit, Villa Sofia Hospital, Palermo, Italy. 15. Department of Medical Sciences and Public Health, Neurology Unit, University of Cagliari, Cagliari, Italy. fadda_laura@yahoo.it.
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.
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.
Authors: Elan D Louis; Eina H Eliasen; Christine Y Kim; Monica Ferrer; Shahin Gaini; Maria Skaalum Petersen Journal: Neuroepidemiology Date: 2019-08-20 Impact factor: 3.282
Authors: Gamze Kilic-Berkmen; Sarah Pirio Richardson; Joel S Perlmutter; Mark Hallett; Christine Klein; Aparna Wagle-Shukla; Irene A Malaty; Stephen G Reich; Brian D Berman; Jeanne Feuerstein; Marie Vidailhet; Emmanuel Roze; Joseph Jankovic; Abhimanyu Mahajan; Alberto J Espay; Richard L Barbano; Mark S LeDoux; Alexander Pantelyat; Samuel Frank; Natividad Stover; Alfredo Berardelli; Julie Leegwater-Kim; Giovanni Defazio; Scott A Norris; Hyder A Jinnah Journal: Mov Disord Clin Pract Date: 2021-12-01
Authors: Elizabeth Cisneros; Glenn T Stebbins; Qiyu Chen; Jeanne P Vu; Casey N Benadof; Zheng Zhang; Richard L Barbano; Susan H Fox; Christopher G Goetz; Joseph Jankovic; Hyder A Jinnah; Joel S Perlmutter; Charles H Adler; Stewart A Factor; Stephen G Reich; Ramon Rodriguez; Lawrence L Severt; Natividad P Stover; Brian D Berman; Cynthia L Comella; David A Peterson Journal: J Neurol Sci Date: 2020-11-01 Impact factor: 3.181
Authors: Christine Y Kim; Maria Skaalum Petersen; Eina H Eliasen; Giovanni Defazio; Paul Greene; Hyder A Jinnah; Marina A J Tijssen; Elan D Louis Journal: Tremor Other Hyperkinet Mov (N Y) Date: 2019-08-20