MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

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Articles tagged "Dystonia: Clinical features"

  • 2024 International Congress

    Perceptions of Diseases in Patients with Cervical Dystonia

    D. Talkington, D. Sblendorio, K. Pyle, M. Coleman, M. Patel, M. Moreno-Escobar, A. Murray, A. Memon, J. Frey (Morgantown, USA)

    Objective: To explore how perception of disease can impact stigma, mood, quality of life, and severity of symptoms in patients with cervical dystonia (CD). Background:…
  • 2024 International Congress

    Ataxic-spastic gait: a form of presentation of DYT5/DYT-GCH1

    V. Mendes Ferreira, M. Magriço, B. Meira, P. Bugalho (Lisboa, Portugal)

    Objective: Describe a case of DYT5/DYT-GCH1 presenting with an ataxic-spastic gait Background: DYT5/DYT-GCH1 is an autosomal dominant disease typically characterized by lower limb dystonia starting…
  • 2024 International Congress

    Expanding Phenotype of LRRK2 G2019S Mutation: Case Description of Two Sisters Showing Peculiar Phenomenological Traits

    S. Cartella, S. Neri, G. Foti, G. Cartella (Reggio Calabria, Italy)

    Objective: The aim of this case report is to describe and expand LRRK2 phenomenology, including clinical presentation and disease course. Background: LRRK2 is the most…
  • 2024 International Congress

    A study on the phenomenological analysis of Spinocerebellar Ataxia type 12 revealing a dystonic imprint

    A. Mukherjee, S. Pandey (Faridabad, India)

    Objective: To assess the presence and distribution of dystonia in spinocerebellar ataxia type 12 (SCA12). Background: SCA12, commonly seen in the Agarwal community in India,…
  • 2024 International Congress

    Phenotypic Variability in Combined Parkinsonism-Dystonia and Isolated Idiopathic Dystonia

    S. Idrissi, A. Trinchillo, V. Velucci, R. Pellicciari, M. Esposito, D. Belvisi, G. Fabbrini, R. Erro, C. Terranova, M. Zibetti, MC. Altavista, MS. Cotelli, A. Castagna, P. Barbero, D. Cassano, MM. Mascia, T. Ercoli, L. Magistrello, T. Schirinzi, M. Tinazzi, A. Pisani, L. Marinelli, A. Berardelli, G. Defazio (Bari, Italy)

    Objective: To analyze the demographic and clinical differences between patients with combined parkinsonism-dystonia and those with isolated idiopathic dystonia. Background: The current dystonia classification system…
  • 2024 International Congress

    Spectrum of Movement Disorders in Vitamin B12 Deficiency: A Case Series from India

    L. Sahoo, A. Mishra, D. Dash, M. Karan (Bhubaneswar, India)

    Objective: We present a case series of movement disorders associated with vitamin B12 deficiency Background: Vitamin B12 deficiency can cause multiple neuropsychiatric disorders like peripheral…
  • 2024 International Congress

    Cortical Pencil Lining in Brain MRI of a Patient with Chorea and Hepatic Cirrhosis

    S. Casanova, P. Martins, I. Barbosa, M. Malaquias (Vila Nova Gaia, Portugal)

    Objective: To propose a novel etiology for cortical pencil lining Background: Cortical pencil lining refers to the presence of linear hypointense tracings within the cortical…
  • 2024 International Congress

    Longitudinal Assessment of Dystonic Symptoms in Rapid-Onset Dystonia-Parkinsonism: genetic dystonia symptoms vary over time

    I. Haq, V. Wheelock, L. Ozelius, B. Snively, E. Napoli, K. Sweadner, A. Brashear (Miami, USA)

    Objective: To clarify the temporal progression of symptoms in the rare genetic dystonia, ATP1A3 disease Background: The ATP1A3 gene encodes the neuronally ubiquitous α3 subunit…
  • 2024 International Congress

    Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient

    M. Danis, G. Krastev, J. Necpal, R. Jech, M. Zech (Trnava, Slovakia)

    Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…
  • 2024 International Congress

    The Impact of Standardized Recommendations on the Management of Initial and Refractory Pediatric Status Dystonicus

    K. Yang, N. Alazri, L. Vogt, Z. Zaman, V. Quiroz, C. Gorodetsky, D. Ebrahimi-Fakhari (Boston, USA)

    Objective: To develop consensus recommendations for the assessment, triaging and management of pre-status dystonicus, status dystonicus, and refractory status dystonicus in children. Background: Status dystonicus…
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