Clinical Guidance

Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are often precipitated by caffeinated beverages but can also be spontaneous or triggered by excitement, stress, fatigue, and very rarely by sudden movements or prolonged exercise . The clinical description of this disorder is based on the following citations, unless otherwise noted: , , , , , . Age of onset is typically in infancy or childhood but can in rare cases be as late as age 50 years. The attacks predominantly involve dystonic posturing with some choreic and ballistic movements. Individuals often experience an aura-like sensation preceding the attacks. Attacks are never associated with a loss of consciousness and never occur during sleep.

Diagnostic Criteria

Suggestive Findings

Familial paroxysmal nonkinesigenic dyskinesia (PNKD) should be suspected in individuals with the following features:

• Attacks:

• Of dystonia, chorea, and/or ballismus, with onset during infancy

• That can be provoked by alcohol or caffeine

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with familial paroxysmal nonkinesigenic dyskinesia (PNKD), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Surveillance Guidelines

Monitor medication requirements and dosage.

Source: GeneReviews — "Familial Paroxysmal Nonkinesigenic Dyskinesia"