Presentation
We present 2 patients with paroxysmal dyskinesia as the initial symptom of MMD, one resembling paroxysmal kinesigenic dyskinesia (PKD) and the other paroxysmal non-kinesigenic dyskinesia (PNKD). [ncbi.nlm.nih.gov]
Entire Body System
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Fishing
Fish, D.R., Smith, S.J.M., Scott, C.A., Shorvon, S.D. and Marsden, C.D. ( 1992 ) Is nocturnal dystonia a form of frontal lobe epilepsy ? Mov Disord 7: 38 - 42. Google Scholar Crossref Medline ISI Mink, J.W. ( 2007 ) The paroxysmal dyskinesias. [doi.org]
Fish and Marsden (1994) have reviewed epilepsy masquerading as a movement disorder, and they concluded that most cases of hypnogenic dyskinesias are considered to be due to epilepsy, as did Lüders (1996), with cyclic alternating EEG pattern believed to [clinicalgate.com]
Neurologic
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Tingling
Often the aura is described as a tingling sensation in the affected body part. People familiar with paroxysmal dyskinesia quinesigénica not lose consciousness during an episode and no symptoms between episodes. [ivami.com]
The aura is often described as a crawling or tingling sensation in the affected body part. Individuals with this condition do not lose consciousness during an episode and do not experience any symptoms between episodes. [ghr.nlm.nih.gov]
These sensations manifest in several forms, usually described as a tingling in the target limb.A single limb is the most frequently affected area; however it is possible for an attack to affect more than one limb. [en.wikipedia.org]
Many patients experience aura-like symptoms manifested as tingling or parasthesia in the affected limb [ 4, 5, 8, 9 ]. The diagnosis of PKD is essentially clinical and is based on a good observation of the attacks. [e-jmd.org]
Aura symptoms comprise paresthesias, numbness, tingling sensations, or a feeling of muscular tension in the limb that immediately afterward would display the dyskinesia. Some patients learn to prevent the episode by slowing down their movement. [neupsykey.com]
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Alteration of Consciousness
There is no alteration in consciousness. [orpha.net]
Confusion with reflex forms of epilepsy has been common in the past, but in general, paroxysmal dyskinesias are not associated with alterations in consciousness or epileptiform activity on electroencephalogram. [link.springer.com]
Speech can sometimes be affected, with inability to speak due to dystonia, but there is never any alteration of consciousness. The attacks can sometimes be aborted if the patient stops moving or warms up slowly. [clinicalgate.com]
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Abnormal Involuntary Movement
We hypothesize that both hormonal and ischemic factors may be implicated in the pathogenesis of these abnormal involuntary movements. These cases suggest that MMD should be included in the differential diagnosis of PKD and PNKD. [ncbi.nlm.nih.gov]
[…] paroxysmal dyskinesia Paroxysmal dyskinesias are neurologic conditions characterized by sudden episodes of abnormal involuntary movements (hyperkinesias). [neugenes.org]
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Spastic Paraplegia
Variant of PED with spasticity (spastic paraplegia) has been mapped to chromosome 1p in the vicinity of a potassium channel gene. How do these pathogens/genes/exposures cause the disease? The function of MR-1 is not understood. [clinicaladvisor.com]
paraplegia #601042 PKD/PED, onset in childhood AD SLC2A1 1p34.2 DYT9, part of GLUT1-DS Spastic paraplegia Cognitive impairment Alternating hemiplegia of childhood (AHC) #614820 Onset before age 18 mo AD ATP1A3 19q13.2 Phenotypic spectrum with RDP (DYT12 [neupsykey.com]
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Pendular Nystagmus
It consists of a slow (2.4 Hz) tremor of the head, usually horizontal, and often an associated pendular nystagmus ( Antony et al., 1980 ). [clinicalgate.com]
Workup
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
Treatment options mainly include anticonvulsants and benefit of treatment is depending on the type of PD. [ncbi.nlm.nih.gov]
Management and treatment Treatment is different for each of the 4 subtypes. Attacks may be controlled with anticonvulsant drugs such as carbamazepine and phenytoin. [orpha.net]
In symptomatic paroxysmal dyskinesias, the treatment of the underlying disease will provide best results. [doi.org]
UR - UR - 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 Options in Neurology SN [mayoclinic.pure.elsevier.com]
Prognosis
It is important to recognize the clinical presentation of paroxysmal dyskinesias and distinguish these movement disorders from other disorders, such as psychogenic disorders and epilepsia, for deciding the treatment and prognosis of the patients. [ncbi.nlm.nih.gov]
Prognosis The frequency of attacks typically diminishes with age in the familial cases and the disease often completely remits. There are no long term implications for life expectancy. [orpha.net]
With PNKD and PED, at this time, there is no proper way to determine an accurate prognosis. [en.wikipedia.org]
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]
Etiology
We studied 46 patients with paroxysmal dyskinesia and classified them according to phenomenology, duration of attacks, and etiology. [ncbi.nlm.nih.gov]
Etiology The exact etiology of PD is still elusive and the causes multifactorial. [orpha.net]
Many other etiologies have been reported since the cases in the 1950s and 1960s (see below). [clinicalgate.com]
Epidemiology
Summary Epidemiology The prevalence of PD is still unknown. The worldwide prevalence of PKD and PNKD is estimated to be 1/150,000 and 1/1,000,000 respectively. Clinical description The age of onset is typically in childhood. [orpha.net]
Brodbelt, Border Terriers under primary veterinary care in England: demography and disorders, Canine Genetics and Epidemiology, 4, 1, (2017). [doi.org]
Pathophysiology
Recent genetic discoveries may aid us in elucidating the pathophysiology of these disorders. [mayoclinic.pure.elsevier.com]
During the last two decades, various genetic abnormalities have been identified thereby providing insight into the underlying pathophysiology and offering therapeutic opportunities for many of these conditions. [ncbi.nlm.nih.gov]
Prevention
Patient has to be immobile once symptoms start after the exercise to prevent the kinesigenic involuntary movements. Involuntary movements could be induced in the lower limbs, upper limbs, facial and jaw muscle by local exercise. [ncbi.nlm.nih.gov]
The ketogenic diet for patients with paroxysmal exertion-induced dyskinesias is a promising new therapeutic strategy and may not only prevent attacks but also lead to improvement of developmental delay in affected children. [doi.org]
PED patients usually avoid prolonged, continuous exertion to prevent occurrence of attacks. Use of anticonvulsants such as benzodiazepines show little to no success in PED patients. [en.wikipedia.org]