title: Inborn errors of metabolism and motor disturbances in children.
abstract: Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex origins. This review concentrates on motor disturbances as frequent and important symptoms of inborn errors of metabolism. A structured diagnostic approach is developed taking into account age-dependent physiological developments and pathophysiological responses of gross and fine motor functions. A series of investigations are presented with the primary aim of early diagnosis of treatable conditions. The correct recognition and differentiation of movement disorders (ataxia, rigid akinetic syndrome (Fparkinsonism_), dystonia, athetosis, tremor,and others), spasticity, and neuromuscular disorders, requires profound neurological expertise. A high level of suspicion and close interaction between paediatric neurologists and specialists in inborn errors of metabolism are indispensable to effectively and timely identify patients in whom motor disturbances are the presenting and/or main symptom of an inborn error.
authors.affiliation: Neurology and Metabolism Department, Hospital Sant Joan de Déu, 08950 Esplugues, Barcelona, Spain. agarcia@hsjdbcn.org
authors.forename: A
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: N I
authors.initials: NI
authors.lastname: Wolf
authors.forename: M
authors.initials: M
authors.lastname: Serrano
authors.forename: B
authors.initials: B
authors.lastname: Pérez-Dueñas
authors.forename: M
authors.initials: M
authors.lastname: Pineda
authors.forename: J
authors.initials: J
authors.lastname: Campistol
authors.forename: E
authors.initials: E
authors.lastname: Fernández-Alvarez
authors.forename: J
authors.initials: J
authors.lastname: Colomer
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
mesh_terms: D000465:Algorithms; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis*; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000209:etiology*; D009069:Movement Disorders / Q000175:diagnosis / Q000209:etiology; D009128:Muscle Spasticity / Q000175:diagnosis / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis