Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.

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

Neurology

journal_title

Neurology

authors

Kong CK,Ko CH,Tong SF,Lam CW

doi

10.1212/wnl.57.6.1121

subject

Has Abstract

pub_date

2001-09-25 00:00:00

pages

1121-4

issue

6

eissn

0028-3878

issn

1526-632X

journal_volume

57

pub_type

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