AI Article Synopsis
- Tyrosine hydroxylase deficiency was diagnosed in four unrelated Dutch patients, leading to a parkinsonian syndrome that started in early infancy.
- All patients experienced mild dystonic movements but no diurnal fluctuations in symptoms.
- They responded positively to low-dose L-dopa/carbidopa treatment, improving motor skills, though full normalization was not achieved, and they exhibited mild mental retardation.
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.
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| http://dx.doi.org/10.1212/wnl.55.12.1926 | DOI Listing |
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