Dopa-responsive Dystonia Misdiagnosed as Cerebral Palsy and Hereditary Spastic Paraplegia 2 Cases: Two cases report.

, Kim, Eun Sang; , Park, Hong Souk; , Yoon, Young Kwan; , Kim, Ae Ryoung; , Choi, Jung Hwa; , Won, Yu Hui; , Cho, Sung Rae

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2010;34(5):583-586.

Kim, Eun Sang , Park, Hong Souk , Yoon, Young Kwan , Kim, Ae Ryoung , Choi, Jung Hwa , Won, Yu Hui , Cho, Sung Rae

Department of Rehabilitation Medicine, and Research Institute, Yonsei University College of Medicine, Korea. srcho918@yuhs.ac

뇌성마비 및 유전성 경직성 하지마비로 오진된 도파반응성 근긴장 이상증 2예 −증례 보고−

김은상, 박홍석, 윤영권, 김애령, 최정화, 원유희, 조성래

연세대학교 의과대학 재활의학교실 및 재활의학연구소

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. (J Korean Acad Rehab Med 2010; 34: 583-586)

Key Words: Dopa-responsive dystonia, Diurnal variation, Levodopa