Journal
NEUROLOGY
Volume 57, Issue 6, Pages 1121-1124Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.57.6.1121
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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.
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