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腓骨肌萎縮癥(Charcot-Marie-Tooth, CMT)腓骨肌萎縮癥(Charcot-Marie-Tooth,CMT)譯者：陶可（北京大學(xué)人民醫(yī)院骨關(guān)節(jié)科）腓骨肌萎縮癥(CMT)是一種控制肌肉的周?chē)窠?jīng)疾病，可導(dǎo)致手指、上肢手臂、下肢和足部的功能和感覺(jué)進(jìn)行性喪失。腓骨肌萎縮癥(CMT)是遺傳性周?chē)窠?jīng)病的一種形式。CMT這個(gè)名字從何而來(lái)？CMT是腓骨肌萎縮癥(Charcot-Marie-Tooth)的縮寫(xiě)，以首先描述該病的三位醫(yī)生命名：Drs.Jean-MartinCharcot和PierreMarie（均來(lái)自法國(guó)）和HowardHenryTooth（英國(guó)）。目前全世界有多少人患有腓骨肌萎縮癥(CMT)？腓骨肌萎縮癥(CMT)影響美國(guó)133,000人，全球約300萬(wàn)人。誰(shuí)可能患有腓骨肌萎縮癥(CMT)？腓骨肌萎縮癥(CMT)可以影響任何人，無(wú)論種族、性別、民族等。腓骨肌萎縮癥(CMT)是否遺傳（傾向）？腓骨肌萎縮癥(CMT)是最常見(jiàn)的遺傳性周?chē)窠?jīng)病。腓骨肌萎縮癥(CMT)可以代代相傳。它也可以作為新的或自發(fā)的（從頭）突變發(fā)生。有多少基因突變會(huì)導(dǎo)致腓骨肌萎縮癥(CMT)？科學(xué)家們已經(jīng)鑒定出超過(guò)100種不同的基因突變會(huì)導(dǎo)致腓骨肌萎縮癥(CMT)。大多數(shù)人(90%)患有四種類型的腓骨肌萎縮癥(CMT)之一：CMT1A(PMP22)；CMT1B（MPZ）；CMT2A(MFN2)和CMT1X(GJB1)。腓骨肌萎縮癥(CMT)有多少種類型？腓骨肌萎縮癥(CMT)分為三種主要類型：脫髓鞘型（1型和4型）、軸突型（2型）和中間型。腓骨肌萎縮癥(CMT)是會(huì)進(jìn)展的疾病嗎？腓骨肌萎縮癥(CMT)緩慢進(jìn)展，導(dǎo)致小腿/腳和手/手臂失去正常功能和/或感覺(jué)。腓骨肌萎縮癥(CMT)周?chē)窠?jīng)病變有哪些癥狀？腓骨肌萎縮癥(CMT)癥狀????腓骨肌萎縮癥(CMT)周?chē)窠?jīng)病變的最初癥狀可能包括用腳趾走路、頻繁絆倒、踝關(guān)節(jié)扭傷、笨拙以及腳和/或手的“灼燒感”或針刺感?；加须韫羌∥s癥(CMT)的兒童可能會(huì)更頻繁地跌倒，并且延遲達(dá)到某些標(biāo)準(zhǔn)的兒童身體發(fā)育階段。????高足弓和錘狀趾（卷曲腳趾）等足部結(jié)構(gòu)畸形很常見(jiàn)，但有些人有扁平足和直腳趾。在疾病過(guò)程的后期，手指和手部可能會(huì)出現(xiàn)攣縮。????由于腳部和腿部肌肉萎縮，可能會(huì)出現(xiàn)足下垂（腳踝處無(wú)法抬起腳）、平衡不良和行走問(wèn)題，有些人可能患有髖關(guān)節(jié)發(fā)育不良。????隨著手部萎縮的發(fā)生和進(jìn)展，涉及手動(dòng)靈巧性的任務(wù)（例如書(shū)寫(xiě)、抓握或撿起小物體或操縱拉鏈和紐扣）可能會(huì)出現(xiàn)困難。????在腓骨肌萎縮癥(CMT)中，感覺(jué)異常、輕觸感覺(jué)能力喪失、整體觸覺(jué)以及感知溫度變化的能力可能會(huì)減弱，甚至喪失。喪失感知身體在空間中的位置（本體感覺(jué)）的能力也很常見(jiàn)，許多人會(huì)經(jīng)歷肌肉骨骼或神經(jīng)性疼痛。????對(duì)冷、冷和/或熱溫度的耐受性較差是典型的。許多人長(zhǎng)期手腳冰涼。其他癥狀可能包括彎曲的手指、攣縮、震顫、膝關(guān)節(jié)和/或髖關(guān)節(jié)問(wèn)題、肌肉痙攣、肌肉痙攣、大魚(yú)際肌肉萎縮（拇指和食指之間的肌肉質(zhì)量損失）、手部整體力量喪失、反射缺失或減弱，慢性疲勞、阻塞性睡眠呼吸暫停、血液循環(huán)不良、脊柱側(cè)凸、脊柱后凸、髖關(guān)節(jié)發(fā)育不良。????罕見(jiàn)癥狀包括呼吸肌無(wú)力引起的呼吸困難、吞咽或說(shuō)話困難、神經(jīng)源性膀胱、聽(tīng)力喪失、視神經(jīng)病變和聲帶麻痹。????腓骨肌萎縮癥(CMT)的心理影響不容忽視，它會(huì)導(dǎo)致煩躁、抑郁、焦慮、絕望和內(nèi)疚感。如何診斷腓骨肌萎縮癥(CMT)？腓骨肌萎縮癥(CMT)診斷涉及肌肉功能和萎縮的臨床評(píng)估、感覺(jué)反應(yīng)測(cè)試以及肌電圖和神經(jīng)傳導(dǎo)研究。許多類型的腓骨肌萎縮癥(CMT)也可以通過(guò)基因檢測(cè)來(lái)診斷。腓骨肌萎縮癥(CMT)與肌肉萎縮癥有何不同？腓骨肌萎縮癥(CMT)是一種控制肌肉的周?chē)窠?jīng)疾病。肌營(yíng)養(yǎng)不良癥是肌肉本身的疾病。腓骨肌萎縮癥(CMT)有治療方法嗎？盡管腓骨肌萎縮癥(CMT)沒(méi)有藥物治療，但物理治療和適度活動(dòng)（但不要過(guò)度勞累）可以幫助保持肌肉力量、耐力和靈活性。AFO（踝足矯形器）和定制鞋等機(jī)械支撐可以改善步態(tài)和平衡。當(dāng)有醫(yī)學(xué)指征時(shí)，整形外科手術(shù)可以矯正畸形并幫助保持活動(dòng)能力和功能。職業(yè)治療和適應(yīng)性設(shè)備可以幫助人們進(jìn)行日常生活活動(dòng)。腓骨肌萎縮癥(CMT)有治愈方法嗎？腓骨肌萎縮癥(CMT)目前無(wú)法治愈，但通常不會(huì)導(dǎo)致肥胖等，盡管在一小部分情況下它會(huì)嚴(yán)重致殘。腓骨肌萎縮癥(CMT)患者應(yīng)避免服用哪些藥物？有些藥物對(duì)所有人都有神經(jīng)毒性。一些神經(jīng)毒性藥物對(duì)腓骨肌萎縮癥患者構(gòu)成更大的風(fēng)險(xiǎn)。長(zhǎng)春新堿已被證明是危險(xiǎn)的，所有腓骨肌萎縮癥(CMT)患者都應(yīng)避免使用。服用任何藥物或更換藥物之前，請(qǐng)確保您的醫(yī)生充分了解您的健康狀況，并討論他們可能對(duì)腓骨肌萎縮癥(CMT)產(chǎn)生的任何可能的副作用。?WhatisCharcot-Marie-Toothdisease?Charcot-Marie-Tooth(CMT)isadiseaseoftheperipheralnervesthatcontrolmusclesthatcancauseprogressivelossoffunctionandsensationinthehands,arms,legs,andfeet.CMTisaformofinheritedperipheralneuropathy.WheredidthenameCMTcomefrom?CMTistheacronymforCharcot-Marie-Toothdisease,namedafterthethreephysicianswhofirstdescribedit:Drs.Jean-MartinCharcotandPierreMarie(bothfromFrance)andHowardHenryTooth(oftheUnitedKingdom).HowmanypeoplehaveCMT?CMTaffects133,000peopleintheUnitedStatesandroughly3millionworldwide.WhogetsCMT?CMTcanaffectanyoneregardlessofrace,gender,ethnicity,etc.IsCMTgenetic?CMTisthemostcommonlyinheritedperipheralneuropathy.CMTcanbepassedonfromonegenerationtothenext.Itcanalsooccurasaneworspontaneous(denovo)mutation.LearnaboutCMTinheritancepatterns.HowmanygenemutationscauseCMT?Scientistshaveidentifiedover100differentgenemutationscausingCMT.Mostpeople(90%)haveoneoffourtypesofCMT:CMT1A(PMP22);CMT1B(MPZ);CMT2A(MFN2)andCMT1X(GJB1).HowmanytypesofCMTarethere?TherearethreemaintypesofCMT–demyelinating(types1&4),axonal(type2),andintermediate.LearnmoreaboutCMTTypesandSubtypesIsCMTprogressive?CMTisslowlyprogressive,causinglossofnormalfunctionand/orsensationinthelowerlegs/feetandhands/arms.?WhatarethesymptomsofCMTperipheralneuropathy?CMTSymptoms???FirstsignsofCMTperipheralneuropathymayincludetoe-walking,frequenttripping,anklesprains,clumsiness,and“burning”orpins-and-needlessensationsinthefeetand/orhands.ChildrenwithCMTmayfallmorefrequentlyandbedelayedinreachingsomeofthestandardchildhoodphysicalmilestones.???Structuralfootdeformitiessuchashigharchesandhammertoes(curledtoes)arecommon,butsomepeoplehaveflatfeetandstraighttoes.Laterinthediseaseprocess,contracturesmaydevelopinthefingersandhands.???Footdrop(inabilitytoliftfootatankle),poorbalance,andproblemswalkingmaydevelopasmusclesatrophyinthefeetandlegs,andsomepeoplemayhavehipdysplasia.???Difficultywithtasksinvolvingmanualdexterity,suchaswriting,graspingorpickingupsmallobjectormanipulatingzippersandbuttonscandevelopasatrophyinthehandssetsinandprogresses.???Abnormalsensation,lossofabilitytofeellighttouch,theoverallsenseoftouch,andtheabilitytoperceivetemperaturechangecanbecomediminished,orevenlost,inCMT.Thelossoftheabilitytosensewhereone’sbodyisinspace(proprioception)isalsocommon,andmanypeopleexperiencemusculoskeletalorneuropathicpain.???Poortoleranceforcool,coldand/orhottemperaturesistypical.Manypeoplehavechronicallycoldhandsandfeet.Additionalsymptomsmayincludeflexedfingers,contractures,tremor,kneeand/orhipproblems,musclecramps,musclespasms,thenarmuscleatrophy(lossofmusclemassbetweenthethumbandforefinger),lossofoverallhandstrength,absentorreducedreflexes,chronicfatigue,obstructivesleepapnea,poorcirculation,scoliosis,kyphosis,hipdysplasia.???Raresymptomsincludebreathingdifficultiescausedbyrespiratorymuscleweakness,swallowingorspeakingdifficulties,neurogenicbladder,hearingloss,opticneuropathyandvocalcordparalysis.???ThepsychologicalimpactofhavingCMTcan’tbeignored,leadingtoirritability,depression,anxiety,feelingsofhopelessnessandguilt.Ifyouarehavingsuicidalthoughts,immediatelycallyourlocalsuicidehotlineortheNationalSuicidePreventionLifeline:1-800-273-TALK(1-800-273-8255),orseekhelprightawayatalocalemergencyroom.HowisCMTdiagnosed?ACMTdiagnosisinvolvesclinicalevaluationofmusclefunctionandatrophy,testingofsensoryresponses,andelectromyographicandnerveconductionstudies.ManytypesofCMTcanalsobediagnosedbygenetictesting.LearnmoreabouttheCMTDiagnosisProcessHowisCMTdifferentfromMuscularDystrophy?CMTisadiseaseoftheperipheralnervesthatcontrolmuscles.Musculardystrophyisadiseaseofthemusclesthemselves.IsthereaTreatmentforCMT?AlthoughthereisnodrugtreatmentforCMT,physicaltherapyandmoderateactivity(butnotoverexertion)canhelpmaintainmusclestrength,enduranceandflexibility.MechanicalsupportslikeAFOs(ankle-footorthoses)andcustom-madeshoescanimprovegaitandbalance.Whenmedicallyindicated,orthopedicsurgerycancorrectdeformityandhelpmaintainmobilityandfunction.Occupationaltherapyandadaptivedevicescanhelppeopleperformactivitiesofdailyliving.IsthereacureforCMT?CMTiscurrentlyincurable,butnotusuallyfatal,thoughitisseverelydisablinginasmallproportionofcases.AnymedicationspeoplewithCMTshouldavoid?Somemedicationsareneurotoxictoallhumans.SomeneurotoxicmedicationsposeagreaterrisktopeoplelivingwithCharcot-Marie-Toothdisease.VincristinehasbeenprovenhazardousandshouldbeavoidedbyallCMTpatients.Visitthispageformoreinformationaboutpotentiallyneurotoxicmedications.Beforetakinganymedicationorchangingmedications,besureyourphysicianisfullyawareofyourmedicalconditionanddiscussanypossiblesideeffectstheymayhaveonCMT.Haveadrug/medicationquestion?Emailusatinfo@cmtausa.org.文獻(xiàn)出處：https://www.cmtausa.org/understanding-cmt/what-is-cmt/