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Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
Author(s) -
FernándezÁlvarez Emilio,
GarcíaCazorla Angeles,
Sans Anna,
Boix Cristina,
Vilaseca María Antonia,
Busquets Christianne,
Ribes Antonia
Publication year - 2003
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10442
Subject(s) - dyskinesia , dystonia , girl , magnetic resonance imaging , pediatrics , medicine , glutaric acid , movement disorders , paroxysmal dyskinesia , neurological disorder , central nervous system disease , psychology , psychiatry , parkinson's disease , radiology , developmental psychology , chemistry , disease , organic chemistry
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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