• Media type: E-Article
  • Title: Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
  • Contributor: Fernández‐Álvarez, Emilio; García‐Cazorla, Angeles; Sans, Anna; Boix, Cristina; Vilaseca, María Antonia; Busquets, Christianne; Ribes, Antonia
  • Published: Wiley, 2003
  • Published in: Movement Disorders, 18 (2003) 9, Seite 1076-1079
  • Language: English
  • DOI: 10.1002/mds.10442
  • ISSN: 0885-3185; 1531-8257
  • Keywords: Neurology (clinical) ; Neurology
  • Origination:
  • Footnote:
  • Description: AbstractA 16‐year‐old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society