منابع مشابه
Paroxysmal Kinesigenic Dyskinesia
Background Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (PRRT2) gene. Phenomenology Shown In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette's syndrome. Educational Value Regardless of the underlying phenotype, PKD is highly responsive to some...
متن کاملParoxysmal Kinesigenic Dyskinesia.
We present a case of paroxysmal kinesigenic dyskinesia (PKD) in a 21 year old girl, with no family history of similar episodes. The episodes were short (lasting less than a minute), frequent, occurring 5 to 10 times a day, self-limiting dystonia of her right upper limb precipitated by sudden movement. She also had a past history of partial seizures with secondary generalization in her childhood...
متن کاملParoxysmal kinesigenic dyskinesia.
Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterised by brief and frequent attacks of abnormal involuntary movements induced by sudden movement. This disorder has not been reported previously in Sri Lanka. We studied six patients with respect to clinical presentation, aetiology, family history and response to treatment, and describe the Sri Lankan patterns of this illness. A...
متن کاملTeaching Video NeuroImages: paroxysmal kinesigenic dyskinesia.
Alexandra Borchert, MD Gabriel Möddel, MD Matthias Schilling, MD A man presented multifocal brachiofacial or generalized dystonic movements and dyskinesias (video on the Neurology Web site at www.neurology.org). Episodes started with a variable aura, triggered by emotional stress or movement initiation. Clinical examination and diagnostics including brain MRI and EEG were normal. Attacks stoppe...
متن کاملUnlocking the genetics of paroxysmal kinesigenic dyskinesia.
362: 59–62. Rouleau G, Meijer I. CSCI/RCPSC Henry Friesen lecture: the past and the future of neurogenetics. Clin Invest Med 2007; 30: E269–73. Sawcer S, Ban M, Wason J, Dudbridge F. What role for genetics in the prediction of multiple sclerosis? Ann Neurol 2010; 67: 3–10. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic ...
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ژورنال
عنوان ژورنال: Tremor and Other Hyperkinetic Movements
سال: 2017
ISSN: 2160-8288
DOI: 10.5334/tohm.393