2022 International Congress » Dystonia: Epidemiology, Genetics, Phenomenology

Meeting: 2022 International Congress

Aromatic L-amino acid decarboxylase deficiency: A rare disease case report and literature review

P. Bacus, R. Sauer, T. Kini, Z. Guduru, K. Jones (Lexington, USA)

Assessment of mood symptoms and influence on disease in cervical dystonia

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

Association of accelerometer-derived sleep and idiopathic dystonia: A UK Biobank cohort study

G. Bailey, M. Wadon, S. Komarzynski, C. Matthews, EH. Davies, K. Peall (Cardiff, United Kingdom)

Categorizing non-focal dystonia, an un-biased data-driven approach

J. Younce, R. Cascella, J. Luna, S. Norris (St. Louis, USA)

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

C. Listik, E. Listik, G. Santos, F. Vale, F. Rolim, D. Portela, N. Araújo, P. Carvalho, S. Camargos, J. Lapa, R. Otani, R. Costa, E. Barbosa, R. Cury, J. Limongi, F. Cardoso, H. Ferraz, D. Andrade (Sao Paulo, Brazil)

Compound heterozygous mutation of the Beta galactosidase 1 gene presenting with familial dystonia and spondylo-epiphyseal dysplasia

A. Elavarasi, A. Anand, A. Garg, K. Garg, M. Singh, M. Tripathi, D. Vibha, R. Singh (New Delhi, India)

Compound heterozygous PANK2 variants in two unrelated kindreds with atypical PKAN

A. Saini, R. Mewara, B. Verma, V. Scaria, B. Bk, A. Srivastava, R. Rajan (New Delhi, India)

De novo mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

T. Wirth, A. Méneret, N. Drouot, G. Rudolf, O. Lagha-Boukbiza, J. Chelly, C. Tranchant, A. Piton, E. Roze, M. Anheim (Strasbourg, France)

Development of a patient journey map for people living with cervical dystonia

M. Benson, A. Albanese, K. Bhatia, P. Cavillon, L. Cuffe, K. König, C. Reinhard, H. Graessner (Brussels, Belgium)

Dystonia prior and after seeing a Neurologist at the Neurology department of Befelatanana University Hospital, Antananarivo, Madagascar

NF. Rasaholiarison, JL. Rakotomanana, LA. Rajaonarison, F. Razafizandry, J. Razafimahefa, AD. Tehindrazanarivelo (Fianarantsoa, Madagascar)

Dystonic tremor: one symptom, different etiologies: About three cases

S. Laroussi, S. Sakka, N. Bouattour, N. Farhat, S. Daoud, K. Moalla, H. Hadjkacem, M. Damak, C. Mhiri (Sfax, Tunisia)

Exploring the diversity of alleviating manoeuvres in Cervical Dystonia

L. Avanzino, F. Di Biasio, G. Bonassi, E. Pelosin, N. Cothros, R. Marchese, D. Martino (Genoa, Italy)

Eye closure during tasks in blepharospasm (BSP)

P. Kassavetis, E. Shamim, K. Gottfried, M. Hallett (Salt Lake City, USA)

Frequency of non- motor symptoms in dystonia patients

V. Vuletic (Rijeka, Croatia)

Genetic landscape of dystonia in Asian Indian patients

R. Rajan, A. Saini, R. Mewara, B. Verma, D. Radhakrishnan, E. Arunmozhimaran, A. Gupta, V. Vishnu, M. Singh, R. Bhatia, R. Mir, I. Singh, F. Mohammed, B. Binukumar, V. Scaria, A. Srivastava, P. Srivastava (New Delhi, India)

Highlighting the dystonic phenotype related to GNAO1

T. Wirth, G. Garone, M. Kurian, A. Piton, F. Milan, A. Telegrafi, N. Drouot, G. Rudolf, J. Chelly, W. Marks, L. Burglen, D. Demailly, P. Coubes, M. Castro-Jimenez, S. Joriot, J. Ghoumid, J. Belin, J-M. Faucheux, L. Blumkin, M. Hull, M. Parnes, C. Ravelli, A. Nemeth, M. Smith, A. Barnicoat, C. Ewenczyk, A. Méneret, E. Roze, B. Keren, C. Mignot, C. Beroud, F. Acosta, C. Nowak, W. Wilson, D. Steel, A. Capuano, M. Vidailhet, J-P. Lin, C. Tranchant, L. Cif, D. Doummar, M. Anheim (Strasbourg, France)

Increased Prevalence of Thyroid Disease in Cervical Dystonia

L. Scorr, G. Kilic-Berkmen, A. Rosen, C. Yeo, J. Hanfelt, H. Jinnah (Atlanta, USA)

Isolated craniocervical dystonia without neuropsychiatric manifestations associated with NMDA-receptor antibodies

S. Waller, L. Williams, A. Lee, MW. Lin, H. Morales-Briceno, V. Fung (Westmead, Australia)

KMT2B episignature analysis identifies a probably hypomorphic missense variant in a family with dystonic and non-dystonic phenotypes

S. Siegert, W. Schmidt, M. Freilinger, J. Winkelmann, N. Mirza-Schreiber, K. Oexle, M. Zech (Vienna, Austria)

Lingual dystonia etiology spectrum in a tertiary center

J. Lopes, M. Magalhães (Porto, Portugal)

Mutation screening and burden analysis of AOPEP in dystonia in a Chinese population

J. Lin, C. Li, H. Shang (Chengdu, China)

Mutation screening and burden analysis of MED27 in dystonia in a Chinese population

J. Lin, C. Li, H. Shang (Chengdu, China)

PHENOTYPIC DESCRIPTION OF TWO UNREPORTED FAMILIES WITH ANO3 DYSTONIA

A. Trinchillo, G. de Joanna, M. Esposito (Naples, Italy)

Scoring Algorithm-Based Genomic Testing in Dystonia- A Validation study from a Single Centre Cohort from India

VV. Holla, K. Neeraja, A. Stezin, M. Netravathi, N. Kamble, R. Yadav, PK. Pal (Bengaluru, India)

Scoring Algorithm-Based Genomic Testing in Dystonia: real-life data from the outpatient clinic

E. Indelicato, M. Amprosi, A. Eigentler, W. Nachbauer, R. Granata, M. Zech, S. Boesch (Innsbruck, Austria)

Sisters with a novel compound heterozygous mutation in GCH1 gene linked to dopa responsive dystonia

M. Demirkiran, M. Balal, A. Bisgin (Adana, Turkey)

Sleep in adult-onset idiopathic focal cervical dystonia (AOIFCD): an evaluation using self-reported and accelerometer derived measures

G. Bailey, M. Wadon, S. Komarzynski, K. Szewczyk-Krolikowski, A. Moore, C. Matthews, EH. Davies, K. Peall (Cardiff, United Kingdom)