Treatment of paroxysmal dyskinesias

Paroxysmal dyskinesias represent a heterogeneous group of rare diseases sharing characteristics with two important groups of neurological disorders, the movement disorders and the epilepsies. Their common hallmark is the paroxysmal occurrence of dyskinesias including athetosis, ballism, chorea and dystonia. During the last two decades, various genetic abnormalities have been identified thereby providing insight into the underlying pathophysiology and offering therapeutic opportunities for many of these conditions.

We summarize the diagnostic criteria of idiopathic and symptomatic paroxysmal dyskinesias and describe their therapeutic options. For the preparation of this review article, an extensive literature search was undertaken using PubMed.

This review provides a practical guide to the diagnosis and treatment of paroxysmal dyskinesias.

The mainstay of therapy is carbamazepine for paroxysmal kinesigenic dyskinesias and clonazepam for the nonkinesigenic dyskinesias. In symptomatic paroxysmal dyskinesias, the treatment of the underlying disease will provide best results. The ketogenic diet for patients with paroxysmal exertion-induced dyskinesias is a promising new therapeutic strategy and may not only prevent attacks but also lead to improvement of developmental delay in affected children.