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Atypical presentation of dopa-responsive dystonia

Generalized hypotonia and proximal weakness

From the Department of Paediatrics (Drs. Kong and Ko), Caritas Medical Centre; and the Department of Chemical Pathology (Dr. Lam, S.F. Tong), Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.

Address correspondence and reprint requests to Dr. C.-K. Kong, Department of Paediatrics, Caritas Medical Centre, 111 Wing Hong St., Shamshuipo, Hong Kong, China; e-mail: ck_kong{at}hotmail.com

Article 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.

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