Intervention Review

Treatment for Charcot-Marie-Tooth disease

  1. Peter Young1,*,
  2. Peter De Jonghe2,
  3. Florian Stögbauer3,
  4. Trude Butterfass-Bahloul4

Editorial Group: Cochrane Neuromuscular Disease Group

Published Online: 23 JAN 2008

Assessed as up-to-date: 13 NOV 2007

DOI: 10.1002/14651858.CD006052.pub2

How to Cite

Young P, De Jonghe P, Stögbauer F, Butterfass-Bahloul T. Treatment for Charcot-Marie-Tooth disease. Cochrane Database of Systematic Reviews 2008, Issue 1. Art. No.: CD006052. DOI: 10.1002/14651858.CD006052.pub2.

Author Information

  1. 1

    University of Münster , Department of Neurology, Münster, Germany

  2. 2

    University of Antwerp - CDE, VIB - Department of Molecular Genetics, Neurogenetics Group, Antwerpen, Belgium

  3. 3

    Klinikum Osnabruck, Department of Neurology, Osnabruck, Germany

  4. 4

    University of Münster, Co-ordinating Centre for Clinical Trials (KKS), Münster, Germany

*Peter Young, Department of Neurology, University of Münster , Albert-Schweitzer-Str.33, Münster, 48129, Germany. young@uni-muenster.de.

Publication History

  1. Publication Status: Edited (no change to conclusions)
  2. Published Online: 23 JAN 2008

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Abstract

  1. Top of page
  2. Abstract
  3. Plain language summary
  4. 摘要

Background

Charcot-Marie-Tooth disease (CMT) comprises a large variety of different forms of motor and sensory neuropathies. The most frequent are demyelinating forms (CMT1) and axonal forms (CMT2). The molecular basis of several CMT forms has been clarified during the last 15 years. Since muscle wasting and sensory disturbance are the main features of these syndromes, treatments aim to improve motor impairment and sensory disturbances. Specific treatment trials are rare.

Objectives

The objective was to review systematically all randomised and quasi-randomised studies of any treatment for CMT.

Search methods

We searched the Cochrane Neuromuscular Disease Group Trials Register, MEDLINE (January 1966 to August 2007), EMBASE (January 1980 to August 2007), LILACS (January 1982 to August 2007) for randomised controlled trials of treatment for CMT.

Selection criteria

We included randomised and quasi-randomised trials of any treatment for people with CMT. Where a study aimed to evaluate the treatment of general neuromuscular symptoms of people with peripheral neuropathy including CMT, we included the study if we were able to identify the effect of treatment in the CMT group. Observational studies and case reports on the treatment of people with CMT were not included.

Data collection and analysis

Two review authors (PY and TBB) extracted the data, assessed study quality and performed data extraction independently.

Main results

Only one trial with only eight participants met all the inclusion criteria and provided the primary outcome measure for this review. In this trial, four participants treated with neurotrophin-3 had more improvement after six months on the Neuropathy Impairment Score, mean difference -9.50 (95% CI -13.77 to -5.23), than those four treated with placebo. Small trials of exercise training, creatine monohydrate, orthoses and purified bovine brain ganglioside injections (Cronassial) showed no significant benefit in people with genetically undefined CMT1 or CMT2.

Authors' conclusions

Small trials of exercise, creatine, purified brain gangliosides, and orthoses have been performed. None showed significant benefit. A very small trial of neurotrophin-3 showed possible minor benefit which needs to be replicated in a larger trial. None of the two trials were large enough to detect moderate benefit or harm. Larger RCTs are needed for any form of pharmacological intervention as well as as for any form of physical intervention. Outcome measures should include a validated composite scale such as the Charcot-Marie-Tooth neuropathy scale.

 

Plain language summary

  1. Top of page
  2. Abstract
  3. Plain language summary
  4. 摘要

Treatment for Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy)

Charcot-Marie-Tooth disease is a broad spectrum of different types of inherited peripheral neuropathy. The most common types affect motor and sensory nerves and cause muscle wasting and sensory loss. There have been few trials of treatment for Charcot-Marie Tooth disease. One very small trial of the nerve growth promoting factor, neurotrophin-3, showed possible benefit but needs to be replicated. Trials of exercise, orthosis, creatine and ganglioside injections have been done but did not show significant benefit. These were all too small to identify moderate benefit or harm. Trials of vitamin C for the commonest type of Charcot-Marie Tooth disease are in progress.

 

摘要

  1. Top of page
  2. Abstract
  3. Plain language summary
  4. 摘要

背景

CharcotMarieTooth氏症的治療

CharcotMarieTooth氏症(CMT)包括各種不同形式的運動及感覺神經病變。最常見的形式是脫髓鞘(CMT1)及軸突的形式(CMT2)。過去的15年中,已經有數種CMT的細胞分子的變化被清楚的研究出來。因為肌肉萎縮和感覺障礙是此病的主要特徵,治療這項疾病的目標在於改善運動功能的傷害和感覺方面的異常。針對此病的治療的相關研究報告為數不多。

目標

本研究的目的是系統地回顧關於治療CMT的隨機和準隨機對照研究結果。

搜尋策略

搜詢內容包括考科藍神經肌肉疾病組試驗紀錄,MEDLINE(1966年1月至2007年8月) , EMBASE (1980年1月至2007年8月) , LILACS(1982年1月至2007年8月)等資料庫中,關於治療CMT的隨機對照試驗。

選擇標準

我們包括了隨機對照試驗(包括交叉研究)還有準隨機對照試驗。開放試驗和未採取雙盲的個別病患研究只被放進討論當中,而未被放進這篇評論中。介入治療的類別包含了任何藥物、微營養素或巨營養素的補充。用來衡量結果的主要變項包含了任何運動耐力的客觀評估(VO2 max, 走路速度、肌肉力量、還有肌肉耐疲勞力的進步)。用來衡量結果的次要變項包含了新陳代謝的變化(像是血清中肌胺酸酐催化脢的活性減少、尿中含肌球蛋白的頻率減少)、主觀評估(包括生活品質評分、失能指數),還有嚴重的副作用。

資料收集與分析

兩個作者檢查了所搜尋到的文章的標頭、摘要,個別地評估了可能相關的文章全文及其所得到數據的研究方法之品質。

主要結論

我們檢閱了20個試驗,其中10個試驗符合了收案的要件而被包含在討論中。最大的一個治療試驗包含了19個病人,其他的試驗的病案數都小於12個人。因為每種治療法都只有一個試驗,我們沒有辦法作統合分析。

作者結論

目前尚無法推薦任何麥卡德爾氏病的治療。在一個小數目病人的缺血運動研究中,低劑量肌酸的補充顯示有顯著意義的好處,雖然不大。在運動前服用口服蔗糖會使病人感覺較不費力、心跳較不快,而且增加運動的耐受力。這個治療不會影響持續的或非預期的運動,而且可能會使病人明顯體重增加。因為麥卡德爾氏病是罕見疾病,未來的治療試驗有需要發展多醫學中心的合作和標準的評估工具。

翻譯人

本摘要由新光醫院鍾禎智翻譯。

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

總結

麥卡德爾氏病的藥物或營養治療: 麥卡德爾氏病(也叫作糖原病第五型)是一個影響肌肉代謝的病,由缺少肌肉磷解脢所引起。這個缺陷造成沒辦法分解肝醣「燃料庫」。這個狀況會引起運動時的疼痛和疲勞。有時候會發生嚴重的肌肉損傷,也可能會導致急性可逆性腎衰竭。攝取低劑量肌酸對於少數病人增進運動耐力有好處。在計畫運動之前攝取含糖飲料可以增進表現,但是這種治療對於日常生活是不切實際的。富含碳水化合物的餐點可能比富含蛋白質的餐點好。在作更明確的治療建議之前,必須有更進一步的研究。