Results 11 to 20 of about 418 (154)

El enfoque de Orientación Cognitiva al Desempeño Ocupacional Diario en discapacidades con origen en la infancia. [PDF]

Dev Med Child Neurol
El enfoque de Orientación Cognitiva al Desempeño Ocupacional Diario (Cognitive Orientation to daily Occupational Performance en inglés o CO‐OP), es una intervención orientada a objetivos centrada en la participación. Diseñada para mejorar el desempeño abordando objetivos personales importantes para los niños y sus familias. Con sus orígenes en 2001, el
Gimeno H, Polatajko H.
europepmc   +2 more sources

Genetic study of a Chinese pedigree with early onset Parkinson's disease caused by novel compound heterozygous mutations in PARKIN gene. [PDF]

Ibrain, 2021
Objective To explore the genetic basis for a Chinese pedigree where two siblings were affected with early‐onset Parkinson's disease (EOPD). Methods Clinical examinations and genomic analyses were performed on five subjects belonging to two generations of a Han Chinese family.
Zhang L, Luo AD, Pan CY, Liu M, Liao SS.
europepmc   +2 more sources

Aplicación de toxina botulínica en el tratamiento de la distonía. Experiencia en un hospital de tercer nivel

Revista Colombiana de Medicina Física y Rehabilitación, 2022
Introducción. La distonía es un trastorno del movimiento que produce afectaciones funcionales a quienes la padecen; la aplicación de toxina botulínica es el tratamiento de elección debido a su seguridad. Objetivo.
Yudi Milena Rodriguez Mojica, Liliana Carolina Mancipe García, Diego Mauricio Chaustre Ruíz   +2 more
doaj   +3 more sources

Difícil manejo do paciente com distonia segmentar respiratória

Revista Brasileira De Otorrinolaringologia, 2007
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 larynx and the pharynx and its evolution concerning spasms intensity and control.
Noémi De Biase
exaly   +3 more sources

Estimulación cerebral profunda del globo pálido interno en el síndrome de distonía mioclónica: serie de 3 casos y revisión de la literatura

Acta Neurológica Colombiana, 2022
INTRODUCCIÓN: La distonía mioclónica es un trastorno del movimiento con poca prevalencia, pero muy discapacitante, en el cual es frecuente la refractariedad al tratamiento médico.
Sergio Andrés Taborda Holguín, Julián Cuartas Zapata, Melissa Ibarra, Hans Carmona Villada, Paula Andrea Millán Giraldo   +4 more
doaj   +1 more source

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Movement Disorders, Volume 38, Issue 2, Page 286-303, February 2023., 2023
Abstract Background As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of
Eva‐Juliane Vollstedt, Susen Schaake, Katja Lohmann, Shalini Padmanabhan, Alexis Brice, Suzanne Lesage, Christelle Tesson, Marie Vidailhet, Isabel Wurster, Faycel Hentati, Anat Mirelman, Nir Giladi, Karen Marder, Cheryl Waters, Stanley Fahn, Meike Kasten, Norbert Brüggemann, Max Borsche, Tatiana Foroud, Eduardo Tolosa, Alicia Garrido, Grazia Annesi, Monica Gagliardi, Maria Bozi, Leonidas Stefanis, Joaquim J. Ferreira, Leonor Correia Guedes, Micol Avenali, Simona Petrucci, Lorraine Clark, Ekaterina Y. Fedotova, Natalya Y. Abramycheva, Victoria Alvarez, Manuel Menéndez‐González, Silvia Jesús Maestre, Pilar Gómez‐Garre, Pablo Mir, Andrea Carmine Belin, Caroline Ran, Chin‐Hsien Lin, Ming‐Che Kuo, David Crosiers, Zbigniew K. Wszolek, Owen A. Ross, Joseph Jankovic, Kenya Nishioka, Manabu Funayama, Jordi Clarimon, Caroline H. Williams‐Gray, Marta Camacho, Mario Cornejo‐Olivas, Luis Torres‐Ramirez, Yih‐Ru Wu, Guey‐Jen Lee‐Chen, Ana Morgadinho, Teeratorn Pulkes, Pichet Termsarasab, Daniela Berg, Gregor Kuhlenbäumer, Andrea A. Kühn, Friederike Borngräber, Giuseppe de Michele, Anna De Rosa, Alexander Zimprich, Andreas Puschmann, George D. Mellick, Jolanta Dorszewska, Jonathan Carr, Rosangela Ferese, Stefano Gambardella, Bruce Chase, Katerina Markopoulou, Wataru Satake, Tatsushi Toda, Malco Rossi, Marcelo Merello, Timothy Lynch, Diana A. Olszewska, Shen‐Yang Lim, Azlina Ahmad‐Annuar, Ai Huey Tan, Bashayer Al‐Mubarak, Hasmet Hanagasi, Dariusz Koziorowski, Sibel Ertan, Gençer Genç, Patricia de Carvalho Aguiar, Melinda Barkhuizen, Marcia M.G. Pimentel, Rachel Saunders‐Pullman, Bart van de Warrenburg, Susan Bressman, Mathias Toft, Silke Appel‐Cresswell, Anthony E. Lang, Matej Skorvanek, Agnita J.W. Boon, Rejko Krüger, Esther M. Sammler, Vitor Tumas, Bao‐rong Zhang, Gaetan Garraux, Sun Ju Chung, Yun Joong Kim, Juliane Winkelmann, Carolyn M. Sue, Eng‐King Tan, Joana Damásio, Péter Klivényi, Vladimir S. Kostic, David Arkadir, Mika Martikainen, Vanderci Borges, Jens Michael Hertz, Laura Brighina, Mariana Spitz, Oksana Suchowersky, Olaf Riess, Parimal Das, Brit Mollenhauer, Emilia M. Gatto, Maria Skaalum Petersen, Nobutaka Hattori, Ruey‐Meei Wu, Sergey N. Illarioshkin, Enza Maria Valente, Jan O. Aasly, Anna Aasly, Roy N. Alcalay, Avner Thaler, Matthew J. Farrer, Kathrin Brockmann, Jean‐Christophe Corvol, Christine Klein, and on behalf of the MJFF Global Genetic Parkinson's Disease Study Group, Anna Aasly, Jan O. Aasly, Natalya Y. Abramycheva, Azlina Ahmad‐Annuar, Alberto Albanese, Roy N. Alcalay, Amaal Aldakheel, Thamer Alkhairallah, Bashayer Al‐Mubarak, Nada Al‐tassan, Victoria Alvarez, Paolo Amami, Grazia Annesi, Silke Appel‐Cresswell, Marco Antonio Araujo Leite, David Arkadir, Micol Avenali, Henrique Ballalai Ferraz, Soraya Bardien, Melinda Barkhuizen, Matthew J. Barrett, A. Nazlı Başak, Daniela Berg, Basar Bilgic, Bastiaan R. Bloem, Vincenzo Bonifati, Agnita J. W. Boon, Vanderci Borges, Friederike Borngräber, Max Borsche, Maria Bozi, Susan Bressman, Alexis Brice, Laura Brighina, Kathrin Brockmann, Norbert Brüggemann, Marta Camacho, Andrea Carmine Belin, Jonathan Carr, Martin Emiliano Cesarini, Mario Cornejo‐Olivas, Bruce Chase, Sun Ju Chung, Leonor Correia Guedes, Jordi Clarimon, Lorraine Clark, Jean‐Christophe Corvol, David Crosiers, Parimal Das, Patricia de Carvalho Aguiar, Joana Damásio, Giuseppe de Michele, Anna De Rosa, Elena Dieguez, Jolanta Dorszewska, Sibel Ertan, Stanley Fahn, Matthew J. Farrer, Ekaterina Y. Fedotova, Rosangela Ferese, Joaquim J. Ferreira, Tatiana Foroud, Manabu Funayama, Victor S. C. Fung, Monica Gagliardi, Stefano Gambardella, Gaetan Garraux, Alicia Garrido, Emilia M. Gatto, Gençer Genç, Nir Giladi, Pilar Gómez‐Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycel Hentati, Jens Michael Hertz, Sergey N. Illarioshkin, Joseph Jankovic, Cristina Januario, Silvia Jesús Maestre, Valtteri Kaasinen, Meike Kasten, Hiroshi Kataoka, Anneke A. Kievit, Yun Joong Kim, Christine Klein, Péter Klivényi, Vladimir S. Kostic, Dariusz Koziorowski, Rejko Krüger, Andrea A. Kühn, Gregor Kuhlenbäumer, Ming‐Che Kuo, Anthony E. Lang, Guey‐Jen Lee‐Chen, Suzanne Lesage, Jia Lun Lim, Shen‐Yang Lim, Chin‐Hsien Lin, Katja Lohmann, Timothy Lynch, Karen Marder, Katerina Markopoulou, Mika Martikainen, Patrick May, Allan McCarthy, George D. Mellick, Manuel Menéndez‐González, Marcelo Merello, Pablo Mir, Anat Mirelman, Brit Mollenhauer, Hugo Morales Briceno, Ana Morgadinho, Huw Morris, Alexandra Mosejova, Kenya Nishioka, Özgür Öztop Çakmak, Diana A. Olszewska, Avi Orr‐Urtreger, Sinthuja Pachchek, Shalini Padmanabhan, Maria Teresa Periñán, Simona Petrucci, Marcia M. G. Pimentel, Radha Procopio, Teeratorn Pulkes, Andreas Puschmann, Caroline Ran, Olaf Riess, Owen A. Ross, Malco Rossi, Javier Ruiz‐Martinez, Esther M. Sammler, João Santos Pereira, Wataru Satake, Rachel Saunders‐Pullman, Susen Schaake, Maria Skaalum Petersen, Matej Skorvanek, Leonidas Stefanis, Alexandra I. Soto‐Beasley, Mário Sousa, Mariana Spitz, Oksana Suchowersky, Carolyn M. Sue, Ai Huey Tan, Eng‐King Tan, Avner Thaler, Fatih Tepgeç, Pichet Termsarasab, Christelle Tesson, Tatsushi Toda, Mathias Toft, Eduardo Tolosa, Luis Torres‐Ramirez, Vitor Tumas, Oya Uyguner, Enza Maria Valente, Bart van de Warrenburg, Marie Vidailhet, Eva‐Juliane Vollstedt, Ronald L. Walton, Cheryl Waters, Caroline H. Williams‐Gray, Juliane Winkelmann, Yih‐Ru Wu, Isabel Wurster, Zbigniew K. Wszolek, Ruey‐Meei Wu, Bao‐rong Zhang, Alexander Zimprich   +306 more
wiley   +1 more source

Diagnostic approach to paediatric movement disorders: a clinical practice guide

Developmental Medicine &Child Neurology, Volume 63, Issue 3, Page 252-258, March 2021., 2021
Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships.
Rick Brandsma, Martje E van Egmond, Marina A J Tijssen, the Groningen Movement Disorder Expertise Centre, H Eggink, J M Gelauff, L H Koens, T J de Koning, D A Sival, A M M van der Stouwe, S van der Veen, R Zutt   +11 more
wiley   +1 more source

Clinical features of dystonia in atypical parkinsonism Características clínicas da distonia no parkinsonismo atípico

Arquivos de Neuro-Psiquiatria, 2008
BACKGROUND: The association between Dystonia and Parkinson's disease (PD) has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism.
Clecio Godeiro-Junior, Andre C. Felício, Orlando G.P. Barsottini, Patricia M. de Carvalho Aguiar, Sonia M.A. Silva, Vanderci Borges, Henrique B. Ferraz   +6 more
doaj   +1 more source

Comparison of clinical characteristics of patients with adductor laryngeal dystonia in the focal and segmental types Comparação entre características clínicas de pacientes com distonia laríngea de adução nas formas focal e segmentar

Brazilian Journal of Otorhinolaryngology, 2011
Dystonia is a central motor processing neurological disorder characterized by abnormal, often action-induced, involuntary movements or uncontrolled spasms.
Gustavo Polacow Korn, Miriam Moraes, Luiz Celso Pereira Vilanova, Bruno Teixeira de Moraes, Glaucya Madazio, Marina Padovani, Noemi Grigoletto De Biase   +6 more
doaj   +1 more source

Cervical dystonia: clinical and therapeutic features in 85 patients Distonia cervical: aspectos clínicos e terapêuticos de 85 pacientes

Arquivos de Neuro-Psiquiatria, 2008
We studied patients with cervical dystonia (CD) to determine clinical features and response to botulinum toxin A (BoNT/A). Patients were submitted to clinical, laboratory and neuroimaging evaluation.
Carlos Henrique F. Camargo, Hélio A.G. Teive, Nilson Becker, Maria Helena Herdoíza Baran, Rosana Hermínia Scola, Lineu César Werneck   +5 more
doaj   +1 more source