MDS Virtual Congress 2021 » Dystonia: Epidemiology, Genetics, Phenomenology

A case of YY1-related isolated dystonia with severe oromandibular involvement

MJ. Malaquias, R. Rodrigues, J. Damásio, A. Mendes, J. Freixo, M. Magalhães (Porto, Portugal)

A National Data-Linkage Study of Incidence and Prevalence of Primary Dystonia

G. Bailey, A. Rawlings, W. Pickrell, K. Peall (Cardiff, United Kingdom)

A new mutation in the C-terminal domain of the YY1 gene associated with Gabriele-de Vries syndrome.

J. Gamez, M. Garcia-Hoyos, O. de Fabregues (Sant Just Desvern, Spain)

A novel ANO3 variant associated with generalized dystonia in an elderly woman

A. Boddu, H. Williams, H. Walker (Birmingham, USA)

A novel variant [c.2974G>A; (p.Asp992Asp)] of DYT/PARK-ATP1A3

R. Baviera-Muñoz, M. Campins-Romeu, I. Sastre-Bataller, M. Losada-López, J. Pérez García, E. Novella-Maestre, I. Martinez-Torres (Valencia, Spain)

Analysis of dystonia and rating scales in children and young adults with SGCE myoclonus dystonia

M. Correa-Vela, J. Carvalho, M. Vanegas, A. Cazurro-Gutiérrez, V. González, R. Alvárez, A. Marcé-Grau, A. Moreno, A. Macaya, B. Pérez-Dueñas (Barcelona, Spain)

Botulinum injections for idiopathic cervical dystonia: a longitudinal study

G. Yahalom, T. Fay-Karmon, V. Livneh, S. Israeli-Korn, L. Ephraty, S. Hassin-Baer (Jerusalem, Israel)

Classifying pain in dystonia: a way to improve pain outcome measure in dystonia.

C. Listik, E. Listik, J. Lapa, G. Santos, F. Do Vale, R. Cury, M. Teixeira, J. Limongi, H. Ferraz, E. Barbosa, D. de Andrade (São Paulo, Brazil)

Clinical heterogeneity of DYT-KMT2B mutation in a family with monozygotic twins

O. Mcwilliam, C. Fagerberg, M. Larsen, D. Kondiziella, I. Havsteen, A. Løkkegaard (Copenhagen N, Denmark)

Combined dystonia in a patient carrying a novel ATL1 gene variant.

M. Gea, K. Beyer, F. Nuñez, L. Ispierto, R. álvarez, G. Lucente, D. Vilas (Badalona, Spain)

Comprehensive analysis of non-motor symptoms and their association with quality of life in writer’s cramp

LY. Zhang, YB. Hou, J. Yang, B. Cao, HF. Shang (Chengdu, China)

Deep Brain Stimulation in Confirmed Genetic Dystonias: A Comprehensive Review

H. Sarva, F. Rodriguez-Porcel, S. Barkan, E. Gatto, P. Garcia Ruiz (New York, USA)

Diagnosis and management of Myoclonus Dystonia Syndrome: a Survey of the European Reference Network for Rare Neurological Diseases.

M. Vanegas, E. Timmers, F. Hamami, S. Boesch, W. Vandenberghe, O. Burgazlieva, M. Møller, L. Hjermind, M. Vidailhet, A. Meneret, T. Bäumer, S. Siegert, T. Gasser, L. Schoels, J. Molnar, A. Capuano, F. Nicita, G. Zorzi, A. Albanese, A. Federico, E. Lohmann, J. Guk, M. Willemsen, N. Wolf, M. Dec-Cwiek, D. Neubauer, D. Flisar, V. Gonzalez, A. Darling, M. Marti, H. Houlden, C. Reinhard, A. Weissbach, M. Tijssen, B. Perez-Dueñas (Barcelona, Spain)

DNMSQuest: a simple tool for identifying mood disorders in cervical dystonia?

S. Rafee, S. O'Riordan, M. Hutchinson (Dublin, Ireland)

Dystonia gravidarum: An emerging clinical entity

E. Donlon, P. Moloney, S. Smyth, S. Lyons, T. Lynch, E. Mcgovern (Limerick, Ireland)

Gait Dysfunction in Blepharospasm

H. Sarva, S. Lons, T. Baumer, C. Klein, H. Jinnah (New York, USA)

GPi-DBS for KMT2B-associated dystonia: systematic review and meta-analysis

A. Saini (New Deelhi, India)

Late-onset Familial Segmental Dystonia with Novel GNAL Mutation

B. Barton, J. Karl, L. Verhagen, M. Rosenbaum (Chicago, USA)

Living with dystonia during first-wave of COVID-19 pandemic: a Framework Analysis of Open-Ended Survey Questions

S. Coniglio, G. Di Rauso, V. Rispoli, M E. Díaz Crescitelli, F. Cavallieri, F. Antonelli, S. Meletti, L. Ghirotto, F. Valzania (Modena, Italy)

MDSGene systematic review on dopa-responsive dystonia caused by mutations in GCH1, TH, SPR, PTS, or QDPR

A. Weissbach, R. Herzog, M. Pauly, L. Hahn, I. König, S. Camargos, B. Jeon, M. Kurian, T. Opladen, N. Brüggemann, C. Klein, K. Lohmann (Lübeck, Germany)

Molecular changes of a de novo missense variant in VPS16 in dystonia

H. Pott, K. Zeuner, C. örün, S. Paschen, S. Diaw, K. Plötze-Martin, M. Borsche, G. Kuhlenbäumer, C. Klein, N. Brüggemann, M. Klinger, K. Lohmann (Lübeck, Germany)

Non-Motor Symptoms in Cervical Dystonia Patients

L. Shperling (Novosibirsk, Russian Federation)

Post-stroke dystonia: Three unique cases

C. Han, L. Klebanoff, P. Magda, B. Sadoughi, S. Pullman, H. Sarva (Ny, USA)

Spread to a third body site in patients with segmental/multifocal idiopathic adult-onset dystonia

T. Ercoli, R. Erro, G. Fabbrini, R. Pellicciari, P. Girlanda, C. Terranova, L. Avanzino, F. Di Biasio, P. Barone, M. Esposito, G. de Joanna, R. Eleopra, F. Bono, L. Manzo, AR. Bentivoglio, M. Petracca, MM. Mascia, A. Albanese, A. Castagna, R. Ceravolo, MC. Altavista, C. Scaglione, L. Magistrelli, M. Zibetti, L. Bertolasi, M. Coletti Moja, MS. Cotelli, G. Cossu, B. Minafra, A. Pisani, S. Misceo, N. Modugno, M. Romano, D. Cassano, A. Berardelli, G. Defazio (Cagliari, Italy)

Tremor in Writer’s Cramp Patients

S. Pandey, A. Datta, N. Batra (New Delhi, India)

Whole genome sequencing aids in diagnosing GCH1 dopa responsive dystonia in two Peruvian patients and influences medical management

L. Urbina-Ramirez, J. La Serna-Infantes, E. Sarapura-Castro, A. Rivera-Valdivia, E. Thorpe, D. Perry, K. Milla-Neyra, C. Galarreta, M. Dueñas-Roque, M. Cornejo-Olivas (Lima, Peru)