Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
Identifieur interne : 004077 ( Main/Exploration ); précédent : 004076; suivant : 004078Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
Auteurs : Emilio Fernández-Álvarez [Espagne] ; Angeles García-Cazorla [Espagne] ; Anna Sans [Espagne] ; Cristina Boix [Espagne] ; María Antonia Vilaseca [Espagne] ; Christianne Busquets [Espagne] ; Antonia Ribes [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-09.
English descriptors
- KwdEn :
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
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DOI: 10.1002/mds.10442
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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. 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