title: [Movement disorders and neurometabolic diseases].
abstract: Movement disorders, especially dystonia, are a frequent manifestation of neurometabolic diseases. Proper characterization and classification of movement disorders is crucial but may be challenging in this setting. The diagnostic work-up should be focused first on treatable disease. Mixed movement disorders, marked orofacial involvement and associated neurological and extra-neurological features should prompt the clinician to consider the possibility of an underlying neurometabolic disorder. The diagnostic approach is based on the abrupt, paroxysmal or insidious nature of onset of the movement disorders, the clinical picture including neurological and systemic signs and symptoms, and the presence or absence of abnormalities on the brain MRI. In addition to specific treatment for the metabolic disease, when available, symptomatic treatment of the movement disorders can be proposed, remembering that these patients are particularly vulnerability to iatrogenesis.
authors.affiliation: Pôle des maladies du système nerveux, fédération de neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP, 75013 Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Grabli
authors.forename: K
authors.initials: K
authors.lastname: Auré
authors.forename: E
authors.initials: E
authors.lastname: Roze
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D015306:Biogenic Monoamines / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications; D046690:Deep Brain Stimulation; D004734:Energy Metabolism / Q000502:physiology; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000150:complications; D016464:Lysosomal Storage Diseases / Q000150:complications; D008279:Magnetic Resonance Imaging; D008659:Metabolic Diseases / Q000150:complications* / Q000175:diagnosis; D008664:Metal Metabolism, Inborn Errors / Q000150:complications; D009069:Movement Disorders / Q000175:diagnosis / Q000209:etiology*; D009422:Nervous System Diseases / Q000150:complications* / Q000175:diagnosis
chemical_list: D015306:Biogenic Monoamines