Abstract
The clinical features of 121 patients, referred for genetic study, with a presumptive diagnosis of idiopathic paroxysmal kinesigenic dyskinesia (PKD), were reviewed by a multicenter panel and reported from the University of Calfornia, San Francisco.
Highlights
Based on the distinctive homogeneous phenotype elicited in 79% of affected subjects, the authors propose the following diagnostic criteria for idiopathic PKD: attacks, mainly dystonic, triggered by sudden movements (100%); precipitated by anxiety or stress (62%), or caffeine (13%); a premonitory sensation (82%); short duration of attacks (
The age at onset is crucial (
A small group of infantile-onset cases do not conform to strict diagnostic criteria of PKD, and alternative diagnoses include paroxysmal nonkinesigenic dyskinesia (PNKD), occurring without a trigger, shuddering attacks, and benign myoclonus of early infancy
Summary
The clinical features of 121 patients, referred for genetic study, with a presumptive diagnosis of idiopathic paroxysmal kinesigenic dyskinesia (PKD), were reviewed by a multicenter panel and reported from the University of Calfomia, San Francisco. Based on the distinctive homogeneous phenotype elicited in 79% of affected subjects, the authors propose the following diagnostic criteria for idiopathic PKD: attacks, mainly dystonic, triggered by sudden movements (100%); precipitated by anxiety or stress (62%), or caffeine (13%); a premonitory sensation (82%); short duration of attacks (
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