Abstract:
:Dopa-responsive dystonia (DRD) is an autosomal dominant disorder typically presenting as dystonia with diurnal variability. Described is an 8-year-old boy who had had waddling gait, generalized hypotonia, and proximal weakness since early childhood. He responded well to low-dose L-dopa. He had a point mutation of the GTP cyclohydrolase I gene. The patient's father and sister had the same mutation but did not have proximal weakness. GTP cyclohydrolase I deficiency can present with hypotonia and weakness.
journal_name
Neurologyjournal_title
Neurologyauthors
Kong CK,Ko CH,Tong SF,Lam CWdoi
10.1212/wnl.57.6.1121subject
Has Abstractpub_date
2001-09-25 00:00:00pages
1121-4issue
6eissn
0028-3878issn
1526-632Xjournal_volume
57pub_type
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