Paroxysmal exercise-induced dystonia with optic atrophy: a-30-year follow-up.

摘要

Sporadic paroxysmal exercise-induced dystonia (PEID) is a rare condition. A recent review identified only 15 cases in the world liter attire, more than half from one British series. A familial syndrome of paroxysmal dystonia induced by exercise such as walking was first described in 1984, and subsequent reports broadened the phenotype to include migraineW and epilepsy. Genetic studies have shown no linkage of familial PEID to loci linked to paroxysmal nonkinesigenic dystonia or familial hemiplegic migraine. We present a further patient with sporadic PEID with additional optic atrophy, pendular nystagmus, and migraine with aura, who has been followed-up and investigated over a period of more than 30 years.