Abstract
An exome sequencing result on a child with atypical gait was reported as negative; follow-up biochemical evaluation and reanalysis led to diagnosis of treatable DOPA-responsive dystonia.
Copyright © 2022 by the American Academy of Pediatrics.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
MeSH terms
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Carbidopa / therapeutic use
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Child
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Dopamine Agonists / therapeutic use
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Drug Combinations
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Dystonic Disorders / diagnosis
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Dystonic Disorders / genetics*
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Dystonic Disorders / metabolism*
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Exome / physiology*
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Exome Sequencing / methods
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GTP Cyclohydrolase / deficiency*
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GTP Cyclohydrolase / genetics*
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Humans
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Levodopa / therapeutic use
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Male
Substances
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Dopamine Agonists
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Drug Combinations
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carbidopa, levodopa drug combination
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Levodopa
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GCH1 protein, human
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GTP Cyclohydrolase
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Carbidopa
Supplementary concepts
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Dystonia, Dopa-responsive