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Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency

✍ Scribed by Yoshiaki Furukawa; Stephen J. Kish; Stanley Fahn

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 333 KB
Volume: 55
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.10820

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## Abstract Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (__TH__) gene have been described recently. The main clinical manifestations are Segawa's disease, or infantile hypokinetic rigid Parkinsonism. Here, we report on a patient with hyperrigidity, p