Results 41 to 50 of about 53,170 (302)

THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA [PDF]

, 2011
Objectives. To identify novel genetic loci associated with primary adult-onset dystonia (AOD) and assess candidate genes from the literature. Secondary aimes.
Esposito, Marcello
core  

Pain localization and response to botulinum toxin in cervical dystonia

Dystonia
IntroductionPain is a common symptom of cervical dystonia (CD). The mainstay of treatment of CD is botulinum toxin, which is known to have benefits in relieving pain.
Alexander S. Wang, Alexander S. Wang, Hanieh Agharazi, Hanieh Agharazi, Aetan Parmar, Camilla W. Kilbane, Camilla W. Kilbane, Lauren Cameron, Lauren Cameron, Aasef G. Shaikh, Aasef G. Shaikh, Aasef G. Shaikh, Steven A. Gunzler, Steven A. Gunzler   +13 more
doaj   +1 more source

Dystonia [PDF]

BMJ, 2022
Sadnicka, A, Meppelink, A-M, Kalinowski, A, Oakeshott, P, van den Dool, J   +4 more
openaire   +2 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Non-motor symptoms in dystonia: from diagnosis to treatment [PDF]

The Dystonia Medical Research Foundation organized an expert virtual workshop in March 2023 to review the evidence on non-motor symptoms across the spectrum of dystonia, discuss existing assessment methods, need for their harmonisation and roadmap to ...
Gimeno, H, Bruggemann, N, Berman, BD, Roze, E, Tinazzi, M, Vidailhet, M, Defazio, G, Perlmutter, JS, Richardson, SEP, Schrag, A, Martino, D, Peall, KJ, Jinnah, HA, Shukla, AW, Worbe, Y, Teller, JK   +15 more
core   +1 more source

Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence [PDF]

, 2022
Background: Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and classification of affected body regions varies among clinicians.
Anne Weissbach, Tobias Bäumer, Joel S Perlmutter, Daniele Belvisi, Gamze Kilic-Berkmen, Mark Hallett, Alfredo Berardelli, Jeanne Feuerstein, H A Jinnah, Dystonia Coalition Investigators, Gina Ferrazzano, Christine Klein, Giovanni Defazio   +12 more
core   +1 more source

Tremor in cervical dystonia

Dystonia
Background: Cervical dystonia (CD) is the most common form of focal dystonia encountered in the clinic. Approximately one-third of CD patients have co-existing tremor in the head and hands.
Sinem Balta Beylergil, Krishna Nikhil Mukunda, Mohamed Elkasaby, Joel S. Perlmutter, Stewart Factor, Tobias Bäumer, Jeanne Feurestein, Erika Shelton, Steven Bellows, Joseph Jankovic, Abhimanyu Mahajan, Tila Wamer-Rosen, Stephen G. Reich, Aparna Wagle Shukla, Irene Malaty, Alberto Espay, Kevin Duque, Mark S. LeDoux, Rachel Saunders-Pullman, Katherine Leaver, Samuel Frank, Alexander Pantelyat, Victor Fung, Sarah Pirio Richardson, Brian Berman, Natividad Stover, Andres Deik, William Ondo, Christopher Groth, Hyder A. Jinnah, Aasef G. Shaikh   +30 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters [PDF]

, 2007
Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal ...
Cachia, Mario J., Galea, Janabel
core  

A digital patient-centered outcome tool for cervical dystonia

Dystonia
IntroductionTo establish clinical trial readiness for dystonia, a crucial step is to develop a Patient-Centered Outcome (PCO) measure to capture therapeutic response in focal dystonia such as in cervical dystonia (CD).
Sarah Pirio Richardson, Brian D. Berman, Janet Hieshetter, Cynthia Comella, David A. Peterson, Gamze Kilic-Berkmen, Laura Wright, Samantha Pentecost, Paul Reyes, Joseph Jankovic, Charles H. Adler, Marina A. J. Tijssen, Teresa J. Kimberley, Monika Benson, Joel S. Perlmutter, Fares Qeadan, H. A. Jinnah   +16 more
doaj   +1 more source