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.
MeSH terms
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Carbidopa / therapeutic use*
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Child
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Chromosome Aberrations / genetics*
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Chromosome Disorders
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Circadian Rhythm / physiology
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Drug Combinations
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Dystonic Disorders / diagnosis*
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Dystonic Disorders / drug therapy
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Dystonic Disorders / genetics
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GTP Cyclohydrolase / genetics
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Gait / drug effects
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Genes, Dominant / genetics*
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Humans
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Levodopa / therapeutic use*
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Male
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Muscle Hypotonia / diagnosis*
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Muscle Hypotonia / drug therapy
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Muscle Hypotonia / genetics
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Muscle Weakness / diagnosis*
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Muscle Weakness / drug therapy
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Muscle Weakness / genetics
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Neurologic Examination
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Point Mutation
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Treatment Outcome
Substances
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Drug Combinations
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carbidopa, levodopa drug combination
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Levodopa
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GTP Cyclohydrolase
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Carbidopa