The paroxysmal dyskinesias.
ABSTRACT The paroxysmal dyskinesias are a challenging group of movement disorders characterised by painless dystonic and/or choreiform movements. Lack of familiarity with their features and a normal neurological examination between attacks frequently cause diagnostic delays, or even the diagnosis of a non-organic disorder. They are classified by their mode of triggering, and also by the duration and frequency of attacks, effectiveness of medication, and any associated syndromes. Four subtypes are recognised: paroxysmal kinesigenic dyskinesia induced by sudden movement; paroxysmal non-kinesigenic dyskinesia precipitated by for instance alcohol or caffeine; paroxysmal exercise-induced dyskinesia triggered by longer lasting activity; and paroxysmal hypnogenic dyskinesia occurring during sleep. Here we will summarise the characteristics of the subtypes, discuss the differential diagnosis, genetic aspects and pathophysiology, and give practical advice on the diagnostic work-up and treatment.
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ABSTRACT: Paroxysmal dyskinesias represent a group of episodic abnormal involuntary movements manifested by recurrent attacks of dystonia, chorea, athetosis, or a combination of these disorders. Paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, paroxysmal exertion-induced dyskinesia, and paroxysmal hypnogenic dyskinesia are distinguished clinically by precipitating factors, duration and frequency of attacks, and response to medication. Primary paroxysmal dyskinesias are usually autosomal dominant genetic conditions. Secondary paroxysmal dyskinesias can be the symptoms of different neurologic and medical disorders. This review summarizes the updates on etiology, pathophysiology, genetics, clinical presentation, differential diagnosis, and treatment of paroxysmal dyskinesias and other episodic movement disorders. Copyright © 2015 Elsevier Inc. All rights reserved.Neurologic Clinics 11/2014; 33(1). DOI:10.1016/j.ncl.2014.09.014 · 1.61 Impact Factor
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ABSTRACT: Paroxysmal dyskinesias are a rare group of hyperkinetic movement disorders mainly characterized by their episodic nature. Neurological examination may be entirely normal between attacks. Three main types of paroxysmal dyskinesias can be distinguished based upon their precipitating events – (i) paroxysmal non-kinesiogenic dyskinesias (PNKD), (ii) paroxysmal kinesiogenic dyskinesias (PKD) and (iii) paroxysmal exercise-induced (exertion- induced) dyskinesias (PED). All three have to be clearly differentiated from non-epileptic psychogenic, non-epileptic organic and epileptic attack disorders. We describe a woman who suffered from paroxysmal kinesiogenic dyskinesia and elucidate the clinical characteristics and differential diagnosis of these paroxysmal disorders.Zeitschrift für Epileptologie 01/2007; 20(3). DOI:10.1007/s10309-007-0262-0
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ABSTRACT: Neurological channelopathies are attributed to aberrant ion channelsaffectingCNS, PNS, cardiac and skeletal muscles.To maintain thehomeostasis of excitable tissues; functional ion channels are necessary to rely electrical signalswhereas any malfunctioning serves as an intrinsic factor todevelop neurological channelopathies.Molecular basis of these disease arestudiedbased on genetic and biophysical approaches, e.g. loci positional cloning whereas pathogenesis and bio-behavioralanalysis revealed the dependency ongenetic mutations and inter-current triggering factors.Although, electrophysiological studies revealed the possible mechanisms of diseases but analytical study of ion channels remained unsettled and therefore underlying mechanism in channelopathies is necessary for better clinical application. Herein, we demonstrated (i) structural and functional role of various ion channels(Na+, K+, Ca2+,Cl-), (ii) pathophysiology involved in the onset of their associated channelopathies and (iii) comparative sequence and phylogenetic analysis of diversified sodium, potassium, calcium and chloride ion channel subtypes.Journal of Membrane Biology 07/2014; 247(11). DOI:10.1007/s00232-014-9716-2 · 2.17 Impact Factor