✦ LIBER ✦
Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
✍ Scribed by Emilio Fernández-Álvarez; Angeles García-Cazorla; Anna Sans; Cristina Boix; María Antonia Vilaseca; Christianne Busquets; Antonia Ribes
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 725 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
A 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