Phenotypic characterization of paroxysmal dyskinesia in Maltese dogs
نویسندگان
چکیده
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 کاملParoxysmal Nonkinesigenic Dyskinesia with Tremor
Introduction. Paroxysmal nonkinesigenic dyskinesia (PNKD) consists of episodes of chorea, athetosis, or dystonia which are not triggered by movement, with complete remission between episodes. A case of genetically confirmed PNKD with simultaneous tremor has not been previously reported. Case Report. The patient is an 86-year-old right-handed female who presented with episodic stiffness, with on...
متن کاملGenetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.
Paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by attacks of dystonia or chorea lasting minutes to hours. Recently, mutations in the myofibrillogenesis regulator 1 gene (MR-1) have been identified in 10 unrelated PNKD kindreds. The authors describe a Canadian PNKD family who does not have mutations in the MR-1 gene and links to a separate locus at 2q31. This indicates that there a...
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ژورنال
عنوان ژورنال: Journal of Veterinary Internal Medicine
سال: 2020
ISSN: 0891-6640,1939-1676
DOI: 10.1111/jvim.15804