title: Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia.
abstract: We present our approach to the diagnosis of pediatric neurotransmitter diseases exemplified by the differential diagnosis of children presenting with dystonia. This approach is based upon the primary aim of early diagnosis of treatable conditions and the need for a logical series of investigations. We have tried to be comprehensive with our coverage but are aware that "new" pediatric neurotransmitter diseases continue to be delineated and that, similarly, a proportion of children presenting with dystonia remain undiagnosed. If this is the case, all of the investigations suggested here may need to be performed regardless of age and presentation. However, of more value is a careful clinical reevaluation.
authors.affiliation: University Children's Hospital, Düsseldorf, D-69120 Germany. birgit.assmann@uni-duesseldorf.de
authors.forename: Birgit
authors.initials: B
authors.lastname: Assmann
authors.forename: Robert
authors.initials: R
authors.lastname: Surtees
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
mesh_terms: D002648:Child; D002675:Child, Preschool; D004422:Dystonia Musculorum Deformans / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D009422:Nervous System Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000503:physiopathology; D018377:Neurotransmitter Agents / Q000502:physiology*
chemical_list: D018377:Neurotransmitter Agents