DYSKINESIA AND DYSTONIA IN NEURO-METABOLIC DISORDERS

In neurological disorders with progressive dyskinetic and dystonic abnormalities, it is a difficult task for the neuropediatrician to make a correct diagnosis solely on the basis of the clinical symptoms and signs. Furthermore, the choice of suitable laboratory procedures for further investigations has become increasingly delicate owing to the continuously accumulating body of information about 'new' metabolic diseases, metabolic pathways, enzymes, tests and loads. The purpose of this article is to make a survey of neurometabolic diseases in which dyskinesia or dystonia or both, are known to occur more or less frequently. It is not our ambition to cover these diseases completely, but it is hoped that this overview may be of some help in the diagnostic approach.