Results 111 to 120 of about 53,170 (302)

Voice and Speech in Atypical Parkinsonian Disorders

Movement Disorders Clinical Practice, EarlyView.
Background Motor speech disorders are early, common, and functionally limiting features of atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA). These impairments are underrecognized and undertreated in neurology clinics.
Federico Rodriguez‐Porcel, Farwa Ali, Michiko Bruno, Heather Davis Cuevas, Rohit Dhall, Kylie Dunne‐Platero, Lawrence I. Golbe, Ihtsham Haq, Nicole Herndon, Lawrence S. Honig, Kyurim Kang, Sarah Kremen, Guillaume Lamotte, Nikolaus R. McFarland, Michela Mir, Leila Montaser‐Kouhsari, Alexander Pantelyat, Joel Page, Hylan Pickett, Laura Purcell Verdun, Kelly Richardson, Jessica Shurer, Michelle Troche, Rene L. Utianski, Katya Villarreal‐Cavazos, Tuhin Virmani, Anne‐Marie Wills, as the Diagnosis and Treatment Working Group, CurePSP Center of Care (CoC) Network, Farwa Ali, Michiko Bruno, Timothy Chang, Rohit Dhall, Kimiko Domoto‐Reilly, Lawrence I. Golbe, Ihtsham Haq, Lawrence S. Honig, Sarah Kremen, Guillaume Lamotte, Zoltan Mari, Nikolaus R. McFarland, Leila Montaser‐Kouhsari, Alexander Pantelyat, Federico Rodriguez‐Porcel, Junaid Siddiqui, Jessica Shurer, Christopher Spears, Tuhin Virmani, Anne‐Marie Wills   +48 more
wiley   +1 more source

A grounded theory of illness representation among musicians with embouchure dystonia/syndrome

Dystonia
Musician’s Task-Specific Focal Dystonia (MD) is a neurological disorder that disrupts highly trained performance-specific motor programs. Among brass and wind players, the embouchure subtype (Embouchure Dystonia, ED) affects the orofacial musculature ...
Maxwell Zywica, Gabriel Radford, Rachel Carmen Ceasar, Bronwen J. Ackermann, Xenos L. Mason   +4 more
doaj   +1 more source

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

Case report: Lingual dystonia symptoms treated with botulinum toxin in patients with THAP1 mutation

Dystonia
Background: THAP1 mutation dystonia is a known genetic cause of generalized dystonia. THAP1 mutation frequently presents with clinical features of bulbar dysfunction, including oromandibular and lingual dystonia.
Aparna Wagle Shukla, Nicole Herndon, Nicole Herndon, Irene Malaty   +3 more
doaj   +1 more source

The Pain in Dystonia Scale (PIDS)—Validation in Craniofacial and Upper Limb Dystonia

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Pain is one of the most disabling non‐motor symptoms in adult‐onset isolated dystonia (AOID). The Pain in Dystonia Scale (PIDS) was developed and validated in cervical dystonia. Its applicability to other focal subtypes remains unknown.
Veronica Bruno, Vittorio Velucci, Beatrice Achen, Marcello Mario Mascia, Antonella Muroni, Daniele Belvisi, Francesco Marchet, Laura Avanzino, Francesca Di Biasio, Roberto Erro, Cristiano Sorrentino, Lucio Marinelli, Flavio Villani, Antonio Pisani, Francesca Valentino, Angelo Fabio Gigante, Anna Castagna, Francesco Bono, Giovanni Cossu, Carlo Alberto Artusi, Carmen Terranova, Martina Petracca, Nicola Tambasco, Giovanni Defazio, Davide Martino   +24 more
wiley   +1 more source

Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law, Shanie Desrosiers, Sinthiya Sivanesan, Helga Tonkov, Frédéric Charron, Frédéric Bretzner, Myriam Srour, Dorothy Barthélemy   +7 more
wiley   +1 more source

Mechanisms of GNAL linked dystonia

Dystonia
Mutations in the GNAL gene, encoding Gαolf, are causative for an adult-onset, isolated dystonia that may provide unique insights into the etiology of adult-onset idiopathic dystonia. Gαolf is an alpha subunit of heterotrimeric G protein that replaces Gαs
Mark S. Moehle
doaj   +1 more source

Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience

Dystonia
IntroductionDYT-11 is a form of myoclonus dystonia (MD) characterized by involuntary muscle jerks and abnormal postures attributable to a variant in the epsilon sarcoglycan (SGCE) gene.
Matthew Aaron Remz, Vedant Garg, Kara A. Johnson, Ka Loong Kelvin Au, Abbas Babajani-Feremi, Abbas Babajani-Feremi, Venkat Srikar Lavu, Coralie de Hemptinne, Joshua K. Wong   +8 more
doaj   +1 more source

A narrative review: clinical trials in therapeutic interventions for dystonia (2020 - 2025)

Dystonia
Dystonia is a disabling movement disorder affecting millions of people. Approach to managing this disorder in clinical practice include oral and intrathecal medication therapy, botulinum toxin injections, deep brain stimulation, rehabilitative regimens ...
Ann Ly, Ann Ly, Afreen Mushtaheed, Afreen Mushtaheed, Monica E. Soliman, Monica E. Soliman, Barbara Karp, Barbara Karp, Hyun Joo Cho, Hyun Joo Cho   +9 more
doaj   +1 more source

Orofacial Drinking Tremor: A Case Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Task‐specific orofacial tremor is a rare condition in which rhythmic oscillations of orofacial muscles occur during specific actions. Drinking tremor represents a recurrent pattern in isolated reports, although its phenomenology and underlying mechanisms remain incompletely defined.
Daniele Birreci, Luca Angelini, Simone Aloisio, Anna S. Grandolfo, Sara Cirinei, Adriana Martini, Martina De Riggi, Matteo Bologna   +7 more
wiley   +1 more source