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Review

Familial Paroxysmal Kinesigenic Dyskinesia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

Sian Spacey  1 , Paul Adams  2
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Free Books & Documents
Review

Familial Paroxysmal Kinesigenic Dyskinesia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

Sian Spacey et al.
Free Books & Documents

Excerpt

NOTE: THIS PUBLICATION HAS BEEN RETIRED. THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE.

Clinical characteristics: Familial paroxysmal kinesigenic dyskinesia (referred to as familial PKD in this entry) is characterized by unilateral or bilateral involuntary movements precipitated by other sudden movements such as standing up from a sitting position, being startled, or changes in velocity; attacks include combinations of dystonia, choreoathetosis, and ballism, are sometimes preceded by an aura, and do not involve loss of consciousness. Attacks can be as frequent as 100 per day to as few as one per month. Attacks are usually a few seconds to five minutes in duration but can last several hours. Age of onset, severity and combinations of symptoms vary. Age of onset, typically in childhood and adolescence, ranges from four months to 57 years. The phenotype of PKD can include benign familial infantile epilepsy (BFIE), infantile convulsions and choreoathetosis (ICCA), hemiplegic migraine, migraine with and without aura, and episodic ataxia. Familial PKD is predominantly seen in males.

Diagnosis/testing: The diagnosis of familial PKD is based on the clinical findings of attacks of dystonia, chorea, ballismus, or athetosis triggered by sudden movements that occur many times per day and can be prevented or reduced in frequency by phenytoin or carbamezepine. Heterozygous pathogenic variants in PRRT2 have been reported as causative of a subset of cases of familial PKD. The other gene(s) associated with PKD have not been identified.

Management: Treatment of manifestations: Attack frequency is reduced or prevented by the anticonvulsants phenytoin or carbamezepine, typically given at lower doses than are used to treat epilepsy. Other effective anticonvulsants include oxcarbazepine, ethosuximide, and lamotrigine.

Genetic counseling: Familial PKD is inherited in an autosomal dominant manner. More than 90% of individuals with familial PKD have an affected parent.

The proportion of cases caused by de novo pathogenic variants is unknown. Offspring of affected individuals with familial PKD have a 50% chance of inheriting the pathogenic variant. Because familial PKD demonstrates incomplete penetrance, a clinically unaffected parent may still have a pathogenic variant, placing the sibs of the proband at a 50% risk of inheriting the variant. Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant in the family has been identified.

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References

    1. Baba Y, Wszolek ZK, Normand MM. Paroxysmal kinesigenic dyskinesia associated with central pontine myelinolysis. Parkinsonism Relat Disord. 2003;10:113. - PubMed
    1. Bhatia KP. The paroxysmal dyskinesias. J Neurol. 1999;246:149–55. - PubMed
    1. Bhatia KP. Familial (idiopathic) paroxysmal dyskinesias: an update. Semin Neurol. 2001;21:69–74. - PubMed
    1. Bhatia KP, Soland VL, Bhatt MH, Quinn NP, Marsden CD. Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature. Mov Disord. 1997;12:1007–12. - PubMed
    1. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004;63:2280–7. - PubMed

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