Global InformationParoxysmal kinesigenic choreoathetosis information
| Paroxysmal kinesigenic choreoathetosis | |
|---|---|
| Other names | Familial PKD |
 | |
| Paroxysmal kinesigenic choreoathetosis is inherited in an autosomal dominant manner | |
| Specialty | Neurology  |
Paroxysmal kinesigenic choreoathetosis (PKC) also called paroxysmal kinesigenic dyskinesia (PKD) is a rare hyperkinetic movement disorder characterized by attacks of involuntary movements, which are triggered by sudden voluntary movements. The number of attacks can increase during puberty and decrease in a person's 20s to 30s. Involuntary movements can take many forms such as ballism, chorea or dystonia and usually only affect one side of the body or one limb in particular.
There are two types of PKD, primary and secondary. Primary PKD can be further broken down into familial and sporadic. Familial PKD, which means the individual has a family history of the disorder, is more common, but sporadic cases are also seen.[1] Secondary PKD can be caused by many other medical conditions such as multiple sclerosis (MS), stroke, pseudohypoparathyroidism,[2] hypocalcemia, hypoglycemia, hyperglycemia,[1] central nervous system trauma, or peripheral nervous system trauma.[3] PKD has also been linked with infantile convulsions and choreoathetosis (ICCA) syndrome, in which patients have afebrile seizures during infancy (benign familial infantile epilepsy) and then develop paroxysmal choreoathetosis later in life.[4] This phenomenon is actually quite common, with about 42% of individuals with PKD reporting a history of afebrile seizures as a child.[4]
PKD affects about 1 in 150,000 people.[5] It accounts for 86.8% of all the types of paroxysmal dyskinesias[6] and occurs more often in males than females.
- ^ a b Bruno, M. K.; Hallett, M.; Gwinn-Hardy, K.; Sorensen, B.; Considine, E.; Tucker, S.; Lynch, D. R.; Mathews, K. D.; Swoboda, K. J.; Harris, J.; Soong, B. W.; Ashizawa, T.; Jankovic, J.; Renner, D.; Fu, Y. H.; Ptacek, L. J. (2004). "Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria". Neurology. 63 (12): 2280–2287. doi:10.1212/01.WNL.0000147298.05983.50. PMID 15623687. S2CID 20135988.
- ^ Thomas, K. P.; Muthugovindan, D.; Singer, H. S. (2010). "Paroxysmal Kinesigenic Dyskinesias and Pseudohypo-parathyroidism Type Ib". Pediatric Neurology. 43 (1): 61–64. doi:10.1016/j.pediatrneurol.2010.03.012. PMID 20682207.
- ^ Cite error: The named reference
mehtawas invoked but never defined (see the help page). - ^ a b Weber, Y. G.; Lerche, H. (2009). "Genetics of paroxysmal dyskinesias". Current Neurology and Neuroscience Reports. 9 (3): 206–211. doi:10.1007/s11910-009-0031-8. PMID 19348709. S2CID 41672884.
- ^ Khan, W. U.; Staios, G.; Rana, A. Q. (2010). "Paroxysmal kinesigenic dyskinesia in a mother and daughter". Acta Neurologica Belgica. 110 (2): 201–202. PMID 20873453.
- ^ Zhou, J. Q.; Zhou, L. M.; Fang, Z. Y.; Wang, Q.; Chen, Z. Y.; Yang, L. B.; Chen, S. D.; Cai, X. D. (2011). "Analyzing clinical and electrophysiological characteristics of Paroxysmal Dyskinesia". Journal of Research in Medical Sciences. 16 (1): 110–114. PMC 3063430. PMID 21448393.