裘馨氏肌肉萎縮症－一個家庭之遺傳諮詢過程

Duchenne Muscular Dystrophy: Genetic Counseling for a Family

陳素珍(Suh-Jen Chen) ； 蘇本華(Pen-Hua Su) ； 陳家玉(Jia-Yuh Chen)

《中山醫學雜誌》 17卷2期 (2006/12) Pp. 269-277

https://doi.org/10.30096/CSMJ.200612.0012

摘要

裘馨氏肌肉萎縮症(Duchenne Muscular Dystrophy, DMD)是一種性連隱性遺傳之疾病，發病者大都為男性，而女性通常為帶因者。家中有此類患者時，對家庭來說是一大衝擊與考驗，隨著患者的病情變化，亦使得家庭容易處於慢性哀傷的情緒中。本個案報告為一裘馨氏肌肉萎縮症家庭成員尋求遺傳諮詢之過程，筆者為遺傳諮詢中心諮詢師，於諮詢過程中，運用觀察及會談方式收集相關資料，協助患者及其他家庭成員進行相關疾病之基因檢測，並提供相關遺傳諮詢過程之經驗。目前國內遺傳諮詢正處於發展階段，對於遺傳疾病進行之諮詢所提出的報告並不多，筆者希望藉由此報告提供各醫療人員對於遺傳過程有一正確了解及認識。

關鍵字

裘馨氏肌肉萎縮症 ； 性連隱性遺傳 ； 帶因者 ； 遺傳諮詢

並列摘要

Duchenne muscular dystrophy (DMD) is a sex-linked recessive disease that primarily affects males, while females are usually carriers. The occurrence of such a disease and its progressive pathologic changes often serves as a testament of character for family members and their relatives. It is against this backdrop where our study of genetic counseling for a family member with DMD began. The author is a counselor for a genetic counseling center. In the course of an evaluation, we utilize observations and interviews to collect relevant information, assist the client and his family members with genetic testing, and provide genetic counseling. Currently, genetic counseling is in its infancy in Taiwan, with few clinical reports arising in the discipline. Thus, it is the authors' hope that the current study will shed light on the genetic counseling process for medical personnel.

並列關鍵字

Duchenne muscular dystrophy ； sex-linked recessive disease ； carrier ； genetic counseling