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脊髓小腦失調症第一型之個案報告

A Case Report of Spinocerebellar Ataxia Type 1

摘要


背景與目的:脊髓小腦失調症是進行性退化性疾病。本篇個案是名64歲男性,於2007年經核磁共振檢查發現小腦萎縮,並經基因檢測確診脊髓小腦失調症第一型。於2018年7月開始門診物理治療介入,主訴為走路平衡不佳。方法:本個案報告將以個案處理模式呈現評估及介入,並結合「國際功能、失能和健康分類」模式分析個案於行走功能的限制。檢查及介入:理學檢查發現個案動態坐姿和站姿平衡能力不足和協調功能不佳,且步態呈現共濟失調,導致個案行走功能受限。依據檢查分析結果及參考相關實證,設計個案平衡能力訓練、協調能力訓練以及行走功能訓練等介入改善行走功能。結果:在經過3週短期治療後,個案坐姿和站姿的動態平衡進步到正常,伯格式平衡量表自39分進步至42分,行走速度自0.9 m/s進步至1.1 m/s,並進步到可在監督下進行室內行走以及兩腳一階上樓梯,在平衡能力及行走功能上皆有進步。結論:經由3週的平衡、協調以及行走功能訓練,有利於改善脊髓小腦失調症第一型患者之平衡能力與行走功能。

並列摘要


Background and Purpose: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative diseases, which are spinocerebellar dysfunctions in cerebellar ataxia classification. In terms of treatments, most are aimed to deal with symptoms or maintain body function as currently there is no effective curable treatment for SCAs. Among all kinds of treatments, physical therapy plays such an important role. Methods: We utilized Client Management Model (CMM) and International Classification of Functioning, Disability, and Health Model (ICF model) to present evaluation and intervention, also analyze the main problems of the case. Moreover, clinical evidence-based medicine literature is used as a reference basis to formulate treatment goals and plans for the case. Results: The case was re-evaluated after 3 weeks of intervention. The result showed the muscle power of the proximal upper and lower extremities maintained 4. As for balance, sitting and standing dynamic balance improved from good to normal. Berg Balance Scale improved from 39 to 42 scores. Scale for the Assessment and Rating of Ataxia maintained 9 scores. In the perspective of ambulation performance, walking speed improved from 0.9 m/s to 1.1 m/s. Also, the case was able to walk indoor safely under the supervision and climbed up stairs with 2 steps up by holding a rail. Conclusion: CMM and ICF models are utilized in this case report to evaluate and analyze the main problems and related influencing factors of the cases, and formulate the reference judgment basis for the treatment plan. This report is also complemented by evidence-based physical therapy research to design the treatment plan, which enables the case to receive effective intervention training to achieve a better prognosis. Clinical Relevance: Although SCA is a progressive degenerative disease, this case report indicates that physical therapy intervention has the effect of promoting the balance and coordination of patients with SCA type 1.

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