Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy

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...

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Hlavní autoři: Lee, Jae-Hyeok, Ki, Chang-Seok, Kim, Dae-Seong, Cho, Jae-Wook, Park, Kyung-Phil, Kim, Seonhye
Médium: Artigo
Jazyk:Inglês
Vydáno: The Korean Academy of Medical Sciences 2011
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3172666/
https://ncbi.nlm.nih.gov/pubmed/21935284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2011.26.9.1244
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