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Paroxysmal Dyskinesias
Sara McGuire1, Swati Chanchani1, Divya S Khurana1
1Department of Pediatrics, Section of Neurology, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA.
Seminars in Pediatric Neurology
|May 9, 2018
Summary
Paroxysmal dyskinesias (PD) are rare movement disorders characterized by sudden, involuntary movements. This review covers their classification, genetic causes, and management strategies for improved patient outcomes.
Area of Science:
- Neurology
- Genetics
- Movement Disorders
Background:
- Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders presenting with involuntary movements while consciousness is maintained.
- PD encompasses kinesigenic (PKD), nonkinesigenic (PNKD), and exercise-induced (PED) subtypes, distinguished by clinical and genetic profiles.
Purpose of the Study:
- To provide a comprehensive review of paroxysmal dyskinesias.
- To detail the classification, clinical features, genetic underpinnings, differential diagnoses, and management of PD.
Main Methods:
- Literature review of paroxysmal dyskinesias.
- Analysis of phenotypic and genotypic characteristics for classification.
- Discussion of differential diagnoses, including mimicry of seizures and psychogenic events.
Main Results:
- Identified genetic causes including MR-1, PRRT2, SLC2A1, and KCNMA1.
- Highlighted secondary causes ranging from infections and metabolic disorders to malignancies.
- Demonstrated differential treatment responses: PKD to antiepileptics, PNKD to trigger avoidance, PED to exercise.
Conclusions:
- Accurate diagnosis of PD subtypes is crucial for effective management.
- Genetic and secondary factors play significant roles in PD pathogenesis.
- Tailored treatment based on PD type improves clinical outcomes.
