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Drug treatment for facioscapulohumeral muscular dystrophy

  • Review
  • Intervention

Authors


Abstract

Background

Facioscapulohumeral muscular dystrophy is a progressive muscle disease which has no agreed treatment. Early suggestions that corticosteroids might be helpful were not supported by a subsequent open label study. The beta 2 adrenergic agonist albuterol, also known as salbutamol, is known to have anabolic effects which might be beneficial for facioscapulohumeral muscular dystrophy. Creatine has been used as a muscle performance enhancer by athletes and it might be helpful in muscular dystrophies including facioscapulohumeral muscular dystrophy.

Objectives

The objective of the review was to determine whether there is any drug treatment which alters the progression of facioscapulohumeral muscular dystrophy.

Search methods

We searched the Cochrane Neuromuscular Disease Group specialised register (searched August 2003), MEDLINE (January 1966 to August 2003) and EMBASE (January 1980 to August 2003) for any references to facioscapulohumeral muscular dystrophy. Abstracts from the major neurological meetings and trial bibliographies were also searched for further references to trials. Experts were contacted for information regarding unpublished trials or trials in progress.

Selection criteria

We included all randomised or quasi-randomised trials of any drug treatment for facioscapulohumeral muscular dystrophy, in adults with a recognised diagnosis of facioscapulohumeral muscular dystrophy. Trials had to include an assessment of muscle strength at one year.

Data collection and analysis

All identified trials were independently assessed by both reviewers to ensure that they fulfilled the selection criteria and were then rated for their quality. Trial data were extracted and entered by one reviewer and checked by the other. If appropriate data existed a weighted treatment effect was to be calculated across trials using the Cochrane statistical package, Review Manager. The results were to have been expressed as relative risks and 95% confidence intervals and risk differences and 95% confidence intervals for dichotomous outcomes, and weighted mean differences and 95% confidence intervals for continuous outcomes.

Main results

Two published high quality randomised controlled trials fulfilled the selection criteria. One compared creatine supplementation with placebo and the other compared high and low-dose albuterol with placebo. A further unpublished randomised controlled trial of albuterol in facioscapulohumeral muscular dystrophy was identified. The creatine trial showed a non-significant difference in favour of creatine. The albuterol trial showed no significant difference in muscle strength at one year but some secondary measures such as lean body mass and handgrip strength did improve.

Authors' conclusions

There is no evidence from randomised controlled trials to support any drug treatment for facioscapulohumeral muscular dystrophy but only two randomised controlled trials have been published.

摘要

背景

顏面肩肱型肌肉失養症的藥物治療

顏面肩肱型肌肉失養症是一種進行性的肌肉疾病,尚未有被認可的治療方式.早期認為類固醇可能會有幫助,但是在隨後的開放標籤研究並不支持這樣的看法. Beta2型腎上腺促進劑albuterol,又被稱為Salbutamol,有合成的作用,可能有利於顏面肩肱型肌肉失養症.肌酐酸一直被用來增加運動員的肌肉表現,它可能對肌肉失養症,包括顏面肩肱型肌肉失養症有幫助.

目標

這一篇審查的目的是確定是否有任何藥物治療可以改變顏面肩肱型肌肉失養症的進展.

搜尋策略

我們搜尋了和顏面肩肱型肌肉失養症有關的文獻,包括Cochrane Neuromuscular Disease Group specialised register (searched August 2003), MEDLINE(January 1966 to August 2003)和 EMBASE(January 1980 to August 2003).為了找到試驗進一步的參考資料,我們也搜尋了主要神經學會議的摘要和試驗的參考書目.我們聯絡了專家,以取得未發表試驗或正進行中試驗的相關資料.

選擇標準

我們加入任何治療顏面肩肱型肌肉失養症藥物的所有隨機或半隨機試驗,而且是在確定診斷是顏面肩肱型肌肉失養症的成人.試驗必須包括一年後肌肉力量的評估.

資料收集與分析

所有確定的試驗獨立地由兩位審查員評估,以確保它們符合選取標準,然後被評定品質。試驗數據被一位審查員提取並輸入,而且被另一位檢查。如果存在一個適當的數據,所有試驗的加權治療效果利用Cochrane統計軟件包Review Manager計算。結果的表示方式為相對風險和95%信賴區間和風險的差異,和二方法結果的95%信賴區間,和加權平均差異,和連續性結果的95%信賴區間。

主要結論

二篇已發表的高品質隨機對照試驗符合選取的標準。其中一個比較了補充肌酸與安慰劑,另一個比較高或低劑量的albuterol與安慰劑。另一項未發表的隨機對照試驗關於albuterol使用在顏面肩肱型肌肉失養症被發現。肌酸試驗的結果顯示在贊成肌酸這一組上沒有顯著性差異。albuterol的試驗顯示在一年後的肌肉力量並沒有顯著差異,但在一些次級的測量結果,例如瘦肉體重和握拳的力量確實有改善。

作者結論

沒有任何隨機對照試驗的證據支持任何藥物可以治療顏面肩肱型肌肉失養症,但迄今只有兩個隨機對照試驗已出版。

翻譯人

本摘要由新光醫院李建欣翻譯。

此翻譯計畫由臺灣國家衛生研究院(National Health Research Institutes, Taiwan)統籌。

總結

從已出版的隨機對照試驗的證據是不夠用來支持任何藥物治療顏面肩肱型肌失養症的有效性。更多的研究是需要的. 顏面肩肱型肌失養症是一種漸進性肌肉疾病。肌肉無力,往往比較溫和,而且進展緩慢,但是大約有五分之一受影響的人最終只能以輪椅代步。肌肉臉部,肩胛骨和上臂受影響最嚴重,但無力也發生在其他肌肉。沒有被認可的治療方式。只有兩個隨機對照試驗已出版。一個albuterol的小型試驗(也稱為salbutamol)和另一個肌酸的小型試驗(建造肌肉的膳食補充品),不足以證實或駁斥有顯著意義的效果。進一步的試驗包括albuterol,肌酸和其他藥物是需要的。

Plain language summary

The evidence from published randomised controlled trials is inadequate to establish the effectiveness of any drug for treating facioscapulohumeral muscular dystrophy. More research is needed

Facioscapulohumeral muscular dystrophy is a progressive muscle disease. Muscle weakness is often relatively mild and progression slow but around one fifth of affected people eventually become wheelchair-bound. The muscles of the face, shoulder blades and upper arms are most severely effected, but weakness occurs in other muscles. There is no agreed treatment. Only two randomised controlled trials have been published. One small trial of albuterol (also known as salbutamol)and another small trial of creatine (a dietary supplement for building muscle) were inadequate to confirm or refute a significant effect. Further trials of albuterol, creatine and other agents are needed.

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