一個脊髓性肌肉萎縮症家庭之遺傳諮詢過程

Genetic Counseling Process for a Family with Spinal Muscular Atrophy

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

《中山醫學雜誌》 22卷1期 (2011/03) Pp. 109-117

https://doi.org/10.30096/CSMJ.201103.0012

摘要

脊髓性肌肉萎縮症(Spinal Muscular Atrophy, SMA)係體染色體隱性遺傳疾病(Autosomal recessive, AR)，因脊髓前角運動神經元漸進性退化，造成肌肉逐漸軟弱無力、萎縮。此症為體染色體隱性遺傳，男、女皆會發病，患者智力不受疾病影響，針對本症目前並無有效治療方式，因此仍以支持性治療為主。適當的復健可延緩疾病進展，延長其獨立行動時間，減少各類併發症的產生，提升患者生活品質。本個案報告為一脊髓性肌肉萎縮症第三型患者及其家屬，尋求疾病診斷及遺傳諮詢之過程。於遺傳諮詢過程中，運用觀察、會談及傾聽方式收集相關資料，協助患者完成相關檢查，並於診斷確立後提供家庭完整遺傳諮詢，並協助個案及家庭適應本症。本報告可提供臨床醫療人員對於脊髓性肌肉萎縮症遺傳諮詢過程之正確瞭解。

關鍵字

脊髓性肌肉萎縮症 ； 遺傳諮詢 ； 體染色體隱性遺傳

並列摘要

Spinal muscular atrophy (SMA), which is characterized by a degeneration of the anterior horn cells of the spinal cord, results in progressive proximal muscle weakness and paralysis. SMA is an autosomal recessive disorder that affects males and females. Patients with SMA often have normal intelligence quotients (IQs). There is no effective treatment for SMA. Supportive treatment should be aimed at improving the patient’s quality of life and minimizing disability, particularly in patients with slow progression. Herein, we report a case involving a 9-year-old male patient with SMA type Ⅲ, who has typical clinical course, for whom we performed an advanced molecular analysis. We provided his family with complete genetic counseling. In the course of genetic counseling, we utilized observation and interview to collect relevant information, assisted the client and his family members with genetic testing, provided genetic counseling, and discussed adaption. This study may serve a reference for medical staff members interested in understanding the genetic counseling process for patients with SMA.

並列關鍵字

Spinal muscular atrophy ； autosomal recessive disorder ； genetic counseling