Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy
Journal of Korean Medical Science
;
: 1244-1246, 2011.
Article
in English
| WPRIM
| ID: wpr-29139
ABSTRACT
Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral palsy or spastic diplegia due to phenotypic variation. Here we report a young woman with DRD who were severely disabled and misdiagnosed as cerebral palsy for over 10 yr. A small dose of levodopa restored wheelchair-bound state to normality. However, thoracolumbar scoliosis has remained as a sequel due to late detection of DRD. Genetic analysis by using PCR-direct sequencing revealed a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GTP cyclohydrolase 1 (GCH1) gene. Although it is known that DRD can be misdiagnosed as cerebral palsy, this case reinforces the importance of differential diagnosis of DRD from cerebral palsy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Levodopa
/
Cerebral Palsy
/
Sequence Analysis, DNA
/
Codon, Initiator
/
Dystonic Disorders
/
Diagnosis, Differential
/
GTP Cyclohydrolase
/
Mutation
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2011
Type:
Article
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