Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies

Genetic epilepsies and developmental and epileptic encephalopathies are commonly associated with concomitant movement disorders, which can mimic seizures and/or create additional disability. Appropriate diagnosis is critical to proper management. A broad range of movement disorder phenomenologies occur among patients with genetic epilepsy, including dystonia, chorea, ataxia, myoclonus, stereotypy, tics, and Parkinsonism. For some genes, clear relationships exist between genotype and movement disorder phenotype, while in other situations, the relationship is more complex. Diagnosis of movement disorders involves elements of history, physical examination, video review, and neurophysiology. Assessment of associated impairment, distress, and/or safety concerns is important for considering risks/benefits of treatment. Movement disorders may range from severe and dangerous, requiring pharmacologic or neuromodulatory treatments such as deep brain stimulation, to relatively benign, with only reassurance and continued observation required. Appropriate treatments differ based on phenomenology and etiology, with some genes associated with tailored treatments which can provide dramatic benefit.