Experience in Managing Child with Congenital Fiber Type Disproportion with Rehabilitation Outcome: Case Report

處理先天性肌纖維類型不均衡病童之復健經驗：個案報告

徐伯誠(Po-Cheng Hsu) ； 莊頌音(Sung-Yin Chuang) ； 楊翠芬(Tsui-Fen Yang)

《台灣復健醫學雜誌》 46卷2期 (2018/12) Pp. 101-106

https://doi.org/10.6315/TJPMR.201812_46(2).0006

摘要

Background: Congenital fiber type disproportion (CFTD) is a histopathological diagnosis, with non-progressive condition and varied clinical presentations. CFTD may cause significant disability due to muscle weakness and related comorbidities. Case report: A 10-year-old boy with clinical presentations of general dystonia since birth was diagnosed as CFTD. His motor domains delayed but the neuropsychological aspects were within normal range. He underwent long term physical therapy and speech therapy since birth. The nasogastric tube was removed until he was 3 years old. The muscle strength and endurance improved along with age and after rehabilitation. Comorbidities include scoliosis, asymmetry of chest wall, musculoskeletal pain were managed. The activities of daily livings were partially involved in motor scale. Modification of life style and the concept of energy conservation were introduced. Conclusion: Multidisciplinary interventions and health education help in managing the motor delay and functional regain. The goal may be individualized after comprehensive evaluation.

關鍵字

Congenital myopathy ； congenital fiber type disproportion ； case report

並列摘要

Congenital fiber type disproportion（CFTD）為一非進行性先天性肌肉病變，須經肌肉切片病理確診，其特點為第一型骨骼肌纖維體積比第二型肌纖維至少小12%。現有文獻提及此疾病之臨床表現變異性大，除肌肉無力，可能併有弓狀顎（High-arched palate）、眼肌麻痺症（Ophthalmoplegia）、呼吸障礙等。患者皆因肌肉無力造成顯著功能障礙。本案例為一10歲確診CFTD男童之長期追蹤與復健介入之描述。患者出生時明顯肌張力不全，自四個月起因生長遲滯、吞嚥功能障礙而接受鼻胃管置入，但診斷未明；後續持續安排物理治療與與語言及吞嚥治療，該患者於一歲八個月時開始走路，三歲時成功移除鼻胃管，並於此時才確診CFTD。患者定期接受完整發展評估，結果顯示明顯動作發展遲緩，其社會心理領域評估結果皆為正常範圍。該患者的肌力與肌耐力隨著年紀增大與物理治療介入而有進步。日常生活能力評估於運動部分仍部分依賴。此外，長期追蹤過程發現該患者有多種肌肉病變之併發症，包括脊柱側彎、雞胸（pectus carinatum）、以及關節與肌肉疼痛。物理治療介入以及教導患者以及家屬運用節省能量之日常生活方式，包括輪椅使用、自我安排活動。本病例報告紀錄CFTD肌病變患者之長期追蹤與復健過程，根據患者之狀況設定個人化復健目標，及處理相關之併發症。

並列關鍵字

先天性肌肉病變（Congenital myopathy） ； 先天性肌纖維類型不均衡（Congenital fiber type disproportion） ； 病例報告（case report）

參考文獻

1. Clarke NF, North KN. Congenital fiber type disproportion--30 years on. J Neuropathol Exp Neurol. 2003;62:977-89

2. Banwell BL, Becker LE, Jay V, et al. Cardiac manifestations of congenital fiber-type disproportion myopathy J Child Neurol. 1999;14:83-7.

3. Clarke NF. Congenital fiber-type disproportion. Semin Pediatr Neurol. 2011;18:264-71.

4. Raat H, Bonsel GJ, Essink-Bot ML, et al. Reliability and validity of comprehensive health status measures in children: The child health questionnaire in relation to the health utilities index. J Clin Epidemiol. 2002;55:67-76.

5. Clarke NF. Congenital fibre type disproportion--a syndrome at the crossroads of the congenital myopathies. Neuromuscul Disord. 2011;21:252-3