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NEUROLOGY 2004;63:2280-2287
© 2004 American Academy of Neurology

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia

New diagnostic criteria

M. K. Bruno, MD, M. Hallett, MD, K. Gwinn-Hardy, MD, B. Sorensen, BA, E. Considine, BSN, S. Tucker, MD, D. R. Lynch, MD, PhD, K. D. Mathews, MD, K. J. Swoboda, MD, J. Harris, PhD, B.-W. Soong, MD, PhD, T. Ashizawa, MD, J. Jankovic, MD, D. Renner, MD, Y.-H. Fu, PhD and L. J. Ptacek, MD

From the Department of Neurology (Drs. Bruno, Ptacek, and Fu, B. Sorensen), University of California, San Francisco, National Institute of Neurological Disorders and Stroke (Drs. Bruno, Hallett, and Gwinn-Hardy, E. Considine), NIH, Bethesda, MD, Department of Neurology (Drs. Swoboda and Renner), University of Utah School of Medicine, Salt Lake City, and Parkinson’s Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, Division of Neurology (Drs. Tucker and Lynch), Children’s Hospital of Philadelphia, PA, Department of Pediatrics (Dr. Mathews), University of Iowa College of Medicine, Iowa City, Department of Neurology (Dr. Harris), Columbia University College of Physicians and Surgeons, New York, Department of Neurology (Dr. Ashizawa), University of Texas Medical Branch, Galveston, Department of Neurology (Dr. Jankovic), Baylor College of Medicine, Houston, and Howard Hughes Medical Institute (Dr. Ptacek), San Francisco, CA; and Department of Neurology (Dr. Soong), National Yang Ming University School of Medicine, and Neurological Institute, Taipei Veterans General Hospital, Taiwan.

Address correspondence and reprint requests to Dr. L.J. Ptacek, Howard Hughes Medical Institute, Department of Neurology, University of California, San Francisco, 1550 4th St., Mission Bay 19B, Rm. 546, San Francisco, CA 94143-2922; e-mail: ptacek{at}itsa.ucsf.edu

Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by short episodes of involuntary movement attacks triggered by sudden voluntary movements. Although a genetic basis is suspected in idiopathic cases, the gene has not been discovered. Establishing strict diagnostic criteria will help genetic studies.

Methods: The authors reviewed the clinical features of 121 affected individuals, who were referred for genetic study with a presumptive diagnosis of idiopathic PKD.

Results: The majority (79%) of affected subjects had a distinctive homogeneous phenotype. The authors propose the following diagnostic criteria for idiopathic PKD based on this phenotype: identified trigger for the attacks (sudden movements), short duration of attacks (<1 minute), lack of loss of consciousness or pain during attacks, antiepileptic drug responsiveness, exclusion of other organic diseases, and age at onset between 1 and 20 years if there is no family history (age at onset may be applied less stringently in those with family history). In comparing familial and sporadic cases, sporadic cases were more frequently male, and infantile convulsions were more common in the familial kindreds. Females had a higher remission rate than males. An infantile-onset group with a different set of characteristics was identified. A clear kinesigenic trigger was not elicited in all cases, antiepileptic response was not universal, and some infants had attacks while asleep.

Conclusions: The diagnosis of idiopathic paroxysmal kinesigenic dyskinesia (PKD) can be made based on historical features. The correct diagnosis has implications for treatment and prognosis, and the diagnostic scheme may allow better focus in the search for the PKD gene(s).

Received April 1, 2004. Accepted in final form September 1, 2004.




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