title: A child with progressive dystonia, dysarthria, and spasticity.
abstract: Children presenting with progressive neurologic symptoms including dystonia, dysarthria, and spasticity can represent a diagnostic challenge. Here we describe the case of a 14-year-old boy who presented to our center with an 11-year history of gradual worsening neurologic symptoms. Diagnostic strategies focus on the use of neuroimaging and genetic testing to help establish the underlying diagnosis. Therapeutic options are also discussed.
authors.affiliation: Department of Neurology, University of California, San Francisco; Department of Veterans Affairs Parkinson's Disease Research, Education, and Clinical Center (PADRECC), San Francisco, CA, USA.
authors.forename: Lauren E
authors.initials: LE
authors.lastname: Schrock
authors.forename: Jill L
authors.initials: JL
authors.lastname: Ostrem
mesh_terms: D000293:Adolescent; D001479:Basal Ganglia / Q000473:pathology; D003680:Deglutition Disorders / Q000150:complications / Q000473:pathology; D003937:Diagnosis, Differential; D004401:Dysarthria / Q000150:complications* / Q000473:pathology; D004421:Dystonia / Q000150:complications* / Q000473:pathology; D020233:Gait Disorders, Neurologic / Q000150:complications* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009128:Muscle Spasticity / Q000150:complications* / Q000473:pathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications* / Q000473:pathology; D013378:Substantia Nigra / Q000473:pathology