l -dopa–responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency
- 26 December 2000
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 55 (12) , 1926-1928
- https://doi.org/10.1212/wnl.55.12.1926
Abstract
Article abstract Tyrosine hydroxylase deficiency was confirmed biochemically and genetically in four unrelated Dutch patients. The patients have a hypokinetic-rigid parkinsonian syndrome with symptoms in early infancy (3 to 6 months of age). Only sporadic dystonic movements were seen. There was no diurnal fluctuation. All patients showed a rapid favorable response to low-dose l-dopa/carbidopa treatment. Motor performance improved but did not fully normalize. The patients have mild mental retardation.Keywords
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