脊瑞拉合併物理治療對於第2a型脊髓性肌肉萎縮症患者動作功能的長期成效：病例報告

The Long-Term Effect of Spinraza Treatment Combined With Physical Therapy on Motor Function in a Patient With Type 2a Spinal Muscular Atrophy: A Case Report

黃心荷(Sin-He Huang) ； 黃希文(Hsi-Wen Huang) ； 潘懿玲(Yi-Ling Pan)

《物理治療》 47卷1期 (2022/03) Pp. 42-48

https://doi.org/10.6215/FJPT.202203_47(1).0004

摘要

脊髓性肌肉萎縮症（spinal muscular atrophy）為一種神經肌肉性退化性疾病，會導致漸進性肌肉萎縮、無力甚至癱瘓。近年來隨著藥物治療的發展，證實脊瑞拉（Spinraza）等藥物能有效改變疾病進程和促進動作功能。本病例報告的個案是一位患有第2a型脊髓性肌肉萎縮症的8歲8個月大男孩，個案在1歲以前發病後動作功能持續退化為獨坐者，因此於5歲3個月大時開始接受脊瑞拉治療。在用藥後個案的動作功能有所進步，目前可以獨坐、扶桌站以及使用有前臂支撐後拉式助行器行走。開始用藥至目前動作評量的改變：（1）漢默氏運動功能量表擴充版（Hammersmith Functional Motor Scale Expanded）從用藥前33分進步到35分；（2）上肢模組修訂版（Revised Upper Limb Module）右手從26分進步到31分、左手從25分進步到28分；（3）目前六分鐘行走測試（Six-Minute Walk Test）在使用輔具時的行走距離為96 m。個案將持續接受脊瑞拉治療與物理治療，並執行居家活動，以增加其動作功能和行走耐力。本篇個案報告提供接受脊瑞拉合併物理治療後，對脊髓性肌肉萎縮症患者動作功能的成效實證，可作為臨床上物理治療介入時的參考。

關鍵字

脊髓性肌肉萎縮症 ； 脊瑞拉治療 ； 物理治療 ； 動作功能

並列摘要

Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease characterized by progressive weakness, muscle atrophy, and even paralysis. With the progress of medication in recent years, some new drugs such as Spinraza have been proved to effectively change the disease progression and improve motor function. The case reported in this article is a boy aged 8 years and 8 months, diagnosed with SMA type 2a. The case had the disease onset before one-year old, and his motor function continued to deteriorate and became a sitter. Therefore, he started receiving Spinraza treatment at 5 years and 3 months old, and then his motor function was gradually improved. Now he can sit independently, stand with hands supported and walk with posterior walker attached with forearm support. Changes of motor function during Spinraza treatment included: (1) the scores of the Hammersmith Functional Motor Scale Expanded (HFMSE) were improved from 33 to 35 points; (2) the scores of the Revised Upper Limb Module (RULM) were improved from 26 to 31 points on the right side and from 25 to 28 points on the left side; (3) the best performance of the Six-Minute Walk Test with walking device was 96 m. The boy will continue to receive Spinraza treatment and physical therapy intervention, and perform home exercises to improve his motor function and walking endurance. This case report provided evidence of the long-term effect of Spinraza treatment combined with physical therapy on motor function in a patient with SMA, and could be used as an example in physical therapy intervention.

並列關鍵字

Spinal muscular atrophy ； Spinraza treatment ； Physical therapy ； Motor function