J Korean Acad Rehabil Med.
2010 Oct;34(5):583-586.
Dopa-responsive Dystonia Misdiagnosed as Cerebral Palsy and Hereditary Spastic Paraplegia 2 Cases: Two cases report
- Affiliations
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- 1Department of Rehabilitation Medicine, and Research Institute, Yonsei University College of Medicine, Korea. srcho918@yuhs.ac
Abstract
- Dystonia is a movement disorder caused by involuntary, sustained muscle contractions, frequently resulting in twitching and repetitive movements or abnormal postures. Dopa-responsive dystonia (DRD) is characterized by early childhood onset, marked diurnal fluctuation of symptoms and dramatic response to levodopa. The aim of this report is to present the two cases of DRD misdiagnosed respectively as cerebral palsy and hereditary spastic paraplegia. Proper understanding of this disease entity and its treatment options are necessary for comprehensive rehabilitative management of DRD.