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Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations
(Wiley-Blackwell, 2008-03-15)
Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. in ...
Difícil manejo do paciente com distonia segmentar respiratória
(ABORL-CCF Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial, 2007-04-01)
Respiratory dystonia is a rare and difficult to diagnose disorder, that causes breathing restriction of various degrees. The objective of the study is to report the case of a patient with respiratory dystonia involving the ...
Cross-cultural adaptation of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) to Brazilian Portuguese
(Academia Brasileira de Neurologia - ABNEURO, 2011)
Cervical dystonia (CD) is a prevalent and incapacitating movement disorder which needs a thorough clinical evaluation of every patient to better tailor treatment strategies. In Brazil, there are no validated CD scales that ...
Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review
(John Wiley & Sons Inc, 2014-09)
Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the most frequent ...
Distonia cervical: tratamiento fisioterapéutico
(2018-06-15)
La Distonia Cervical describe la hiperactividad distonica de la musculatura del cuello, que origina posturas anormales de la cabeza. Entre las posibles causas que origina esta patología tiene que ver con una disfunción de ...
Distonia segmentar como manifestação de angioma cavernoso: relato de caso
(Academia Brasileira de Neurologia, 2019)
Pesquisa de variantes patogênicas no gene gnal em pacientes com distonia isolada idiopática
(Universidade Federal de São Paulo (UNIFESP), 2016-06-30)
Introduction: Due to advancement of Next Generation Sequencing technologies, new genes have been identified as dystonia causes. GNAL gene was recently identified and characterized as a new genetic cause represented by the ...
Estudo da atividade cerebral na distonia focal idiopática utilizando ressonância magnética funcional
(Universidade Federal de São Paulo (UNIFESP), 2020-01-30)
Introduction: Dystonia is a neurological syndrome characterized by sustained or intermittent involuntary muscle contractions, leading to repetitive twisting movements and / or abnormal postures with or without tremor. Focal ...
Is dystonic posturing during temporal lobe epileptic seizures the expression of an endogenous anticonvulsant system?
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2008)
In temporal lobe epilepsy (TLE) seizures, tonic or clonic motor behaviors (TCB) are commonly associated with automatisms, versions, and vocalizations, and frequently occur during secondary generalization. Dystonias are a ...