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Dystonia Diagnosis: Clinical Neurophysiology and Genetics.
di Biase, Lazzaro; Di Santo, Alessandro; Caminiti, Maria Letizia; Pecoraro, Pasquale Maria; Carbone, Simona Paola; Di Lazzaro, Vincenzo.
Afiliação
  • di Biase L; Neurology Unit, Campus Bio-Medico University Hospital Foundation, Via Álvaro del Portillo 200, 00128 Rome, Italy.
  • Di Santo A; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Campus Bio-Medico University of Rome, Via Álvaro del Portillo 21, 00128 Rome, Italy.
  • Caminiti ML; Brain Innovations Lab., Campus Bio-Medico University of Rome, Via Álvaro del Portillo 21, 00128 Rome, Italy.
  • Pecoraro PM; Neurology Unit, Campus Bio-Medico University Hospital Foundation, Via Álvaro del Portillo 200, 00128 Rome, Italy.
  • Carbone SP; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Campus Bio-Medico University of Rome, Via Álvaro del Portillo 21, 00128 Rome, Italy.
  • Di Lazzaro V; Neurology Unit, Campus Bio-Medico University Hospital Foundation, Via Álvaro del Portillo 200, 00128 Rome, Italy.
J Clin Med ; 11(14)2022 Jul 19.
Article em En | MEDLINE | ID: mdl-35887948
Dystonia diagnosis is based on clinical examination performed by a neurologist with expertise in movement disorders. Clues that indicate the diagnosis of a movement disorder such as dystonia are dystonic movements, dystonic postures, and three additional physical signs (mirror dystonia, overflow dystonia, and geste antagonists/sensory tricks). Despite advances in research, there is no diagnostic test with a high level of accuracy for the dystonia diagnosis. Clinical neurophysiology and genetics might support the clinician in the diagnostic process. Neurophysiology played a role in untangling dystonia pathophysiology, demonstrating characteristic reduction in inhibition of central motor circuits and alterations in the somatosensory system. The neurophysiologic measure with the greatest evidence in identifying patients affected by dystonia is the somatosensory temporal discrimination threshold (STDT). Other parameters need further confirmations and more solid evidence to be considered as support for the dystonia diagnosis. Genetic testing should be guided by characteristics such as age at onset, body distribution, associated features, and coexistence of other movement disorders (parkinsonism, myoclonus, and other hyperkinesia). The aim of the present review is to summarize the state of the art regarding dystonia diagnosis focusing on the role of neurophysiology and genetic testing.
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article