MDS Abstracts

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

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Articles tagged "Paroxysmal exercise-induced dyskinesia(PED)"

  • 2024 International Congress

    A better understanding of Paediatric Paroxysmal Movement Disorders

    S. Harvey, N. Allen, S. Byrne, B. Lynch, N. Mcsweeney, S. Neville, O. O'Mahony, M. O'Regan, D. O'Rourke, E. Reade, D. Webb, M. King, K. Gorman (Dublin, Ireland)

    Objective: To clinically characterise paroxysmal movement disorders (PxMD) and determine prevalence in a paediatric population for the first time. Background: Characterised by episodic involuntary movements,…
  • 2019 International Congress

    Clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) studied with whole exome sequencing (WES)

    Z. Xu, Z. Lu, CK. Lim, SC. Low, E. Ng, AH. Tan, SY. Lim, EK. Tan, LCS. Tan (Singapore, Singapore)

    Objective: We aim to investigate the clinical and genetic features of PKD in a large cohort of patients in with WES. Background: PKD is a…
  • 2017 International Congress

    Development of a Paroxysmal Movement Disorder Diary for Patients with Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

    R. Hall, S. Kilgariff, P. Collins, M. Brandabur, R. Arbuckle, A. Bowden (Macclesfield, United Kingdom)

    Objective: To perform qualitative research to develop and establish content validity of a new clinical outcome assessment (COA) instrument for paroxysmal movement disorders in Glut1…
  • 2017 International Congress

    Assessments of Movement Disorder Symptoms and Functional Impacts in Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

    A. Bowden, S. Blair, K. Wesdock, M. Haller, M. Brandabur, P. Collins, A. Skrinar, J. Mayhew (Novato, CA, USA)

    Objective: To identify Clinical Outcome Assessments (COAs) appropriate for the evaluation of paroxysmal movement disorder symptoms and functional impact in Glut1 DS. Background: Glut1 DS…
  • 2016 International Congress

    Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

    M. Quadri, M. Skorvanek, S. Olgiati, M. Minneboo, J. Graafland, G.J. Breedveld, R. Bonte, Z. Ozgur, K. Schoonderwoerd, F.W. Verheijen, W.F.J. van Ijcken, H. Fen Chien, E. Reis Barbosa, H.C. Chang, S.C. Lai, T.H. Yeh, C.S. Lu, Y.H. Wu-Chou, A.J.A. Kievit, V. Han, Z. Gdovinova, R. Jech, R.M.W. Hofstra, G.J.G. Ruijter, W. Mandemakers, V. Bonifati (Rotterdam, Netherlands)

    Objective: To describe a family with two siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. Background: ECHS1 encodes a mitochondrial…

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