Functional Neurological Disorder Overlapping Paroxysmal Kinesigenic Dyskinesia Confirmed by Genetic Diagnosis
نویسندگان
چکیده
Functional neurological disorder (FND) may mimic various kinds of neurologic diseases and coexist with other disorders. In cases overlapped by FND, it might be challenging to distinguish symptoms induced FND those underlying disorders, especially when patients show no positive signs indicative FND. Here, we present the case a patient who was genetically diagnosed paroxysmal kinesigenic dyskinesia (PKD). However, most patient’s were considered indicate To our knowledge, there are reports overlapping PKD. This illustrates possibility that can diseases. It is necessary rule out coexisting modify clinical presentations cannot simply explained recognized disease.
منابع مشابه
Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis
Paroxysmal kinesigenic dyskinesia (PKD) is an autosomal dominant disorder and PRRT2 is the causative gene of PKD. The aim of this study was to investigate PRRT2 mutations in patients who were clinically diagnosed with PKD. Nine PKD cases, including four familial cases and five sporadic cases, were selected. Peripheral blood was drawn after obtaining informed consent, and genomic DNA was extract...
متن کاملParoxysmal 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 Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
BACKGROUND Four cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2. CASE REPORT We describe a fifth patient with PKD, features of Asperger's syndrome, and mild language delays. Sanger sequencing of the PRRT2 gene did not identify any mutations implicated in PKD. However, microarray-based comparative genomi...
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ژورنال
عنوان ژورنال: Cureus
سال: 2023
ISSN: ['2168-8184']
DOI: https://doi.org/10.7759/cureus.42693