Clinical Characteristics of Spinal Muscular Atrophy

脊髓性肌肉萎縮症的臨床特徵

范洪春(Hueng-Chuen Fan) ； 張祐剛(Yu-Kang Chang) ； 邵寶釵(Bio-Chia Show) ； 陳怡妤(Yi-Yu Chen) ； 王俐婷(Li-Ting Wang) ； 楊惠菁(Hui-Ching Yang) ； 遲景上(Ching-Shiang Chi)

《童綜合醫學雜誌》 15卷S期 (2021/09) Pp. 47-54

https://doi.org/10.3966/20713592202109150S007

摘要

Spinal muscular atrophy (SMA) is a genetic disorder. The mutated homozygous SMN1 affects the survival of motor neurons in the spinal cord, ultimately leading to muscle atrophy and weakness, which often cause scoliosis, joint contractures, and restrictive lung function resulting in frequent pneumonia and death. The definite diagnosis of SMA relies on typical clinical characteristics, electromyogram changes, muscle biopsy, changes in serum creatine kinase levels, and gene analysis. Advancements in molecular and bio-technology have generated several promising therapeutic approaches aimed at treating SMA, which was once thought to be incurable. This study aimed to summarize the clinical characteristics of SMA and provide comprehensive information regarding the disease that would be valuable in improving current medical care and in clinical trials involving patients with SMA in a local teaching hospital.

關鍵字

Spinal muscular atrophy (SMA) ； survival motor neuron (SMN)

並列摘要

脊髓肌肉萎縮症（SMA）是一種基因的疾病。由於突變的同型合子存活運動神經元（SMN）影響脊髓上的運動神經元，最終導致肌肉萎縮和無力，造成脊柱側彎，關節攣縮和侷限性肺功能，導致經常性肺炎以及死亡。SMA的確認診斷主要依據臨床特徵、肌電圖的變化、肌肉切片、血清中肌酐酸激酶以及基因檢查。SMA以往被認為是無法治療的疾病，先進的分子醫學技術以一直持續改進、改善、深具意義的方式，發展出具有潛力有前景的SMA治療方法。因此，本研究想以一個教學醫院近5年的病歷，來分析SMA病人的臨床特徵，包括性別、發病年齡、基因、產前病史、生產模式、出生體重以及臨床症狀，除了可以提供SMA的完整訊息，改善醫療照護，更有助執行患有SMA病人的臨床試驗。

並列關鍵字

脊髓肌肉萎縮症 ； 同型合子存活運動神經元