Presentation
We present a 40-year-old man with non-kinesigenic paroxysmal dyskinesia, which was initially diagnosed as a psychogenic disorder. This case highlights the varied presentation of this condition and an excellent response to clonazepam. [ncbi.nlm.nih.gov]
Face, Head & Neck
- Facial Grimacing
There was no axial muscle involvement, nor any oromandibular dystonia or facial grimacing. [neurologyindia.com]
Workup
Workup for his symptoms including blood counts, electrolytes, calcium, thyroid functions, vasculitic workup, magnetic resonance imaging (MRI) brain, and electroencephalogram (EEG) were all within normal limits. [annalsofian.org]
We describe the case of a young female patient who was admitted for diagnostic workup: epileptic seizures versus psychogenic movement disorders. [e-jmd.org]
Treatment
You can help by adding to it. ( October 2017 ) Treatment [ edit ] Most pharmacological treatments work poorly, but the best treatment is a low dosage of clonazepam, a muscle relaxant. [en.wikipedia.org]
Treatment with valproic acid and levetiracetam provided favorable response. [ncbi.nlm.nih.gov]
[…] scp=64549123014&partnerID=8YFLogxK U2 - 10.1007/s11940-009-0020-x DO - 10.1007/s11940-009-0020-x M3 - Review article VL - 11 SP - 170 EP - 178 JO - Current Treatment Options in Neurology T2 - Current Treatment Options in Neurology JF - Current Treatment [mayoclinic.pure.elsevier.com]
Previous case reports showed effective treatment of PNKD with deep brain stimulation (DBS). We report 2 patients in whom DBS was highly successful when other treatment modalities had failed. [karger.com]
Prognosis
Prognosis No long-term sequelae are associated with PNKD. Moreover, 61% of patients with PNKD show a tendency to decrease the frequency of their attacks with age. However, in some patients, episodes may remain unchanged or worsen with age. [orpha.net]
Typically, patients receive antiepileptic medications, and improvement of symptoms is usually associated with a good prognosis. If symptoms do not improve with antiepileptic medication(s), the prognosis is not favorable. [encyclopedia.com]
The diagnosis of PKD is based on the clinical features and the correct diagnosis has implications for treatment and prognosis. However, PKD is often misdiagnosed clinically as epilepsy or psychogenic illness. [jmedicalcasereports.biomedcentral.com]
The events appear very frightening for carers but have a good prognosis. When reflex anoxic seizures are very frequent, atropine or cardiac pacing may be considered. [epilepsydiagnosis.org]
Etiology
Etiology The pathophysiology of PNKD still remains to be elucidated but approximately 60% of patients exhibit mutations in the PNKD gene (2q35), encoding the PNKD protein (formerly named myofibrillogenesis regulator 1 protein, MR-1). [orpha.net]
• Paroxysmal dyskinesias may be sporadic, genetic, or caused by metabolic or structural etiologies. • Another common cause of paroxysmal dyskinesias is psychogenic movement disorders. • Paroxysmal kinesigenic dyskinesia typically responds well to antiepileptic [medlink.com]
PKD may be secondary to diverse etiologies, including multiple sclerosis, ischemic stroke, birth injury, head injury, drug abuse, diabetes mellitus, or hypoparathyroidism, and the sites of lesion can involve the cerebral cortex, basal ganglia, thalamus [neurologyindia.com]
The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals. [epilepsydiagnosis.org]
PKD is an abnormal involuntary movement that is episodic or intermittent, with sudden onset, and the attacks are induced by sudden movement. [1] Based on etiology, PKD can be classified as primary or secondary PKD. [2] Based on their hereditary nature [annalsofian.org]
Epidemiology
Summary Epidemiology The prevalence of PNKD is estimated to be 1/1,000,000 worldwide. A male preponderance is observed (1.4:1). Clinical description The age of onset is variable ranging from 1 to 77 years. [orpha.net]
Relevant External Links for PNKD Genetic Association Database (GAD) PNKD Human Genome Epidemiology (HuGE) Navigator PNKD Atlas of Genetics and Cytogenetics in Oncology and Haematology: PNKD No data available for Genatlas for PNKD Gene Myofibrillogenesis [genecards.org]
Pathophysiology
Possible pathophysiology is discussed based on recent literature, and we stress that PAPS must be considered in movement disorders of a paroxysmal nature. [rug.nl]
Possible pathophysiology is discussed based on recent literature, and we stress that PAPS must be considered in movement disorders of a paroxysmal nature. (c) 2004 Movement Disorder Society. [ncbi.nlm.nih.gov]
Recent genetic discoveries may aid us in elucidating the pathophysiology of these disorders. [mayoclinic.pure.elsevier.com]
Possible pathophysiology is discussed based on recent literature, and we stress that PAPS must be considered in movement disorders of a paroxysmal nature. © 2004 Movement Disorder Society No References No Citations No Supplementary Data No Article Media [ingentaconnect.com]
Prevention
In addition, avoiding any sudden movements can also prevent an attack. [en.wikipedia.org]
[…] citrate, in doses of 50-200 mg/kg, was shown to significantly reduce parkinsonian dyskinesia in Parkinson’s-induced monkeys. 9 Another study, published in 2005 in the Journal of Anesthesia and Analgesia, looked at the ability of magnesium sulfate to prevent [ndnr.com]
The retained awareness and history of triggers should prevent misdiagnosis as focal seizures. [epilepsydiagnosis.org]