Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.
case_report · Level V
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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.
Medical subject headings
- Carbidopa
- Chromosome Aberrations
- Dystonic Disorders
- Genes, Dominant
- Levodopa
- Muscle Hypotonia
- Muscle Weakness