遺傳漸進日間性肌張力異常症之復健：病例報告

Rehabilitation of a Patient with Diurnally Fluctuating Hereditary Progressive Dystonia- A Case Report

林永明(Yung-Ming Lin) ； 黃美涓(May-Kuen Wong) ； 簡浴沂(Yu-Yi Chien) ； 徐郭堯(Kuo-Yiau Hsiu)

《中華民國復健醫學會雜誌》 20期 (1992/12) Pp. 215-219

摘要

遺傳漸進日間性肌張力異常症極為罕見，在1975年時日本Segawa醫師認為此病是一特別之病症以來，迄1986年世界上病報告約46名左右。其特徵是︰正常發育、幼年發病、肌張力異常、有日間變化性（Diurnal change），對L-dopa有持久之良好反應。本病例是討論一名21歲女性，在八歲時發病，十五歲時只能坐輪奇，二十歲時才確定診斷，接受了二側之馬蹄內翻弓形足矯正手術，並接受L-dopa及復健治療。患者仍已不用柺杖，穿足內墊獨立步行。

並列摘要

Diurnally fluctuating hereditary progressive dystoria is a very rare disorder. In 1975, Segawa regarded this disorder as an entity, and there are 46 cases reported till 1986 since then. The clinical manifestation of this disease are: normal development, early onset, dyotonia, diurnal change, excellent response to L-dopa. In this report, a 21-year-old female, who had had symptoms onset since 8 years old; became wheel chair bound at 15 years of age; was not diagnosed correctly until 20 years old. She received corrective surgery on her bilateral equinocavovarus feet, L-dopa and rehabilitation programs. She was able to walk without any support on assistan device after treatment.