A family with exercise-induced paroxysmal dystonia and childhood absence epilepsy

Introduction. The boundary between epilepsy and paroxysmal dyskinesia appears to be less easy to delineate than previously believed. Reports of families showing both phenomena suggest a shared pathophysiology. Patients and method. A new family with autosomal dominant exercise-induced paroxysmal dystonia is reported. Results. Two family members also had childhood absence epilepsy, and one of them suffered from acute transient hemiplegia at age 10. Conclusion. The association of epilepsy and paroxysmal dyskinesia has been rarely reported in the literature, and several loci have been identified. Absence epilepsy and exercise-induced paroxysmal dystonia appear to be very uncommon, although some reports mentioned the association in sporadic and familial cases. The involvement of ion channel genes in several transient neurological disorders supports the hypothesis of a common pathophysiological process underlying both the childhood absence seizure and the later paroxysmal dystonia.