47_Malattie Neuromuscolari in Età Pediatrica Optimized

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    LCFCRREJ NJZTKLZ_OKFCTE EN JRWJBECRTEOC

    Wjbectreo njurklusoufcr beskrbjrsLcre`c Wcnj, Juijnek Ljroure

    BJAENEXEKNJ

    Fj lcfcttej njurklusokfcre rcpprjsjntcnk un iruppk be pctkfkiej, njffclciiekr pcrtj bje ocse su dcsj jrjbetcrec, omj okfpesoknk prelcrecljntj e

    lusokfe, fc ieunzeknj njurk-lusokfcrj, e njrve pjreajreoe k e lktknjurkne

    bjf lebkffk spencfj. Fj pe oklune en jt pjbectreoc sknk8

    bestrkaj lusokfcre8iruppk be pctkfkiej, spjssk prkirjssevj, omj okf-

    pesoknk prelcrecljntj ef lusokfk. Fc pe oklunj en jt pjbectreoc fc

    Bestrkc lusokfcrj be Buomjnnj0

    ctrkac lusokfcrj spencfj8iruppk be lcfcttej be bevjrsc ircvet en oue

    vjniknk okfpetj fj ojffufj bjffj okrnc cntjrekre bjf lebkffk spencfj0

    senbrkle lecstjneomj8 iruppk be lcfcttej fjictj cb un prkdfjlc bjffc

    trcslesseknj c fevjffk bjffc pfcooc njurklusokfcrj. Qe sknk bevjrsj akrlj

    be oue fj pe arjqujnte sknk fc lecstjnec ircves, su dcsj cutkellunj, jfc lecstjnec oknijnetc, lcfcttec cutkskleoc rjojssevc bjffc ieunzeknj

    njurklusokfcrj omj enezec burcntj fenacnzec. Ife cnteokrpe cnte-rjojttkrj

    okfenjrieok sknk cssjnte, fc lcfcttec nkn vejnj pjrtcntk oknsebjrctc

    cutkellunj.

    ENOEBJNXC

    Bestrkac lusokfcrj be Buomjnnjmc unenoebjnzc be 3/?:77 lcsome

    ncte veve.

    Ctrkac lusokfcrj spencfj8 mc unenoebjnzc be 3/1777-37777.

    Lecstjnec Ircves8 mc unenoebjnzc trc : j 37/377.777. We arjqujn-

    tjljntj okfpesoj iekvcne bknnj cbuftj (skttk e 27) j pjrsknj cnzecnj

    (skprc e 17 cnne) be jntrclde e sjsse, lc pu jvebjnzecrse cnomj en jpkoc

    pjbectreoc. Njffc lecstjnec njknctcfj, ef ajtk pu coqueserj cnteokrpe bc

    unc lcbrj caajttc bc lecstjnec ircves. Ijnjrcfljntj, e ocse be lecstjnec

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    njknctcfj sknk tjlpkrcnje j e sentkle nkrlcfljntj soklpceknk jntrk

    pkomj sjttelcnj bkpk fc ncsoetc. Cftre dcldene svefuppcnk fc lecstjnec

    en lcnejrc enbesteniuedefj bc qujffc bjife cbufte.

    JXEKWCRKIJNJ_E J AE_EKWCRKFKIEC

    Bestrkac lusokfcrj be Buomjnnj8 lcfcttec fjictc cffc ] (]-fen`jb)

    prkvkoctc bc unc lutczeknj njf fkous ]p43 omj pkrtc cffc oklpfjtc

    cssjnzc bjffc bestrknc, unc prktjenc bjffc ljldrcnc ojffufcrj lusok-

    fcrj. Rrcnnj rcresselj joojzekne, cb jssjrnj caajtte sknk jsofusevcljntj

    e lcsome. Fcssjnzc be bestrknc prkvkoc un ircvj bcnnk cffc stcdefet

    bjffc ljldrcnc lusokfcrj okn bjijnjrczeknj bjffj drj lusokfcre.

    Ctrkac lusokfcrj spencfj8 lcfcttec cutkskleoc rjojssevc okn lutczekne

    bjf ijnj _LN fkocfezzctk suf orklksklc :, rjspknscdefj bjffj prkbuzek-

    nj bjffc prktjenc _LN elpkrtcntj pjr fc skprcvvevjnzc bje lktknjurkne.

    _enbrklj lecstjneoc8 ocusctc bc oklprklesseknj k besaunzeknj bje

    rjojttkre pjr fcojtefokfenc.

    _ENRKLE J _JINE

    Bestrkac lusokfcrj be Buomjnnj8 e sentkle enskriknk ijnjrcfljntj

    nje lcsome trc ? j e 9 cnne j sknk ocrcttjrezzcte bc epjrtrkc bje pkfpcooe,cnbcturc cnsjrenc, arjqujnte ocbutj, beaokft cb cfzcrse bc tjrrc (sjink

    be Ikwjr) j c scferj fj socfj. Fc lcfcttec prkirjbesoj en jt sokfcrj ocu-

    scnbk fc pjrbetc bjffc bjcldufczeknj cutknklc jntrk e 3? cnne be jt j,

    pe tcrbevcljntj, fc prkirjssevc pjrbetc be aunzeknj bjife crte supjrekre.

    Ctrkac lusokfcrj spencfj8jsestknk bevjrsj akrlc be _LC omj vjniknk

    bestentj en dcsj cffjt be enskrijnzc j cffc ircvet bjffc lcfcttec.

    Repk E (lcfcttec be Yjrbnei - Mkaalcnn)8 fc akrlc pe ircvj. Jskr-

    besoj entkrnk ce ?-1 ljse be vetc lc nje ocse pe ircve se jvebjnzec ie

    njf pjrekbk njknctcfj. E dcldene nkn coquesesoknk lce fcdefet be stcrj

    sjbute cutknklcljntj. Fc lkrtj cvvejnj njf 5:% bje ocse jntrk fjt

    be 3-4 cnne j nje rjstcnte ocse jntrk e 2 cnne, en ijnjrj pjr ensuaoejnzc

    rjsperctkrec.

    Repk EE (akrlc orkneoc enacntefj)8 e prele sjine bevjntcnk jvebjnte trc e

    1 jb e 34 ljse oeroc k en ocse pe rcre jntrk e buj cnne. E dcldene caajtte

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    bc qujstc akrlc coquesesoknk fc stczeknj sjbutc cutknklc lc nkn fc

    ocpcoet be ocllencrj cutknklcljntj. E pczejnte sknk epktkneoe, okn

    bjoet be akrzc lusokfcrj prksselcfj, cssjnzc bje rejsse tjnbenje j spjssk

    trjlkre j acsoeokfczekne.

    _LC EEE(lcfcttec be @uijfdjri - Yjfcnbjr)8 enskrij bkpk e 4 cnne be jt.

    E dcldene coquesesoknk sjlprj fc ocpcoetc be ocllencrj cutknklcljntj

    cnomj sj en cfoune ocse qujstc cdefet vejnj suoojssevcljntj pjrbutc. Ef

    bjokrsk bjffc lcfcttec pe fjntk j fc skprcvvevjnzc pe funic omj njffc

    akrlc 4 lc jsestj unc clpec vcrecdefet.

    _enbrkle lecstjneomj8 fc ocrcttjresteoc bjffc senbrkle lecstjneomj

    unc bjdkfjzzc lusokfcrj omj culjntc en lcnejrc ocrcttjresteoc bu-

    rcntj e pjrekbe be cttevet j leifekrc bkpk un pjrekbk be repksk. Cfoune

    lusokfe, oklj qujffe omj okntrkffcnk fkoomek j fjfjvczeknj bjffj

    pcfpjdrj, fjsprjsseknj acooecfj, fc lcsteoczeknj j fc bjifutezeknj sknk

    spjssk okenvkfte. Nje ocse pe ircve sknk okfpete cnomj e lusokfe omj

    okntrkffcnk fc rjsperczeknj, ef okffk j e lkveljnte bjife crte pkssknk

    jssjrj entjrjsscte.

    BJOKT_K, OKLWFEOCNXJ J WTKINK_E

    Bestrkac lusokfcrj be Buomjnnj8 sknk okenvkfte e lusokfe rjsperctkre

    j ef oukrj8 e skiijtte svefuppcnk envcrecdefljntj unc senbrklj besvjnte-

    fctkrec rjstrettevc j njffc sjoknbc bjocbj spjssk njojsscrec un suppkrtkbe vjntefczeknj ljoocneoc bcpprelc nktturnc j pke, nje pczejnte pe

    ircnbe cnomj beurnc. We vcrecdefj pjr jt j ircvet ef okenvkfieljntk

    ocrbecok, omj oknsestj njffenskrijrj be unc ocrbeklekpctec befctctevc.

    Znc oklpfeocnzc arjqujntj cb enskrijnzc pe prjokoj fc oklpcrsc be

    sokfekse omj spjssk njojssetc be okrrjzeknj omerurieoc.

    Ctrkac lusokfcrj spencfj8fj oklpfeocnzj bjffctrkc lusokfcrj spencfjsknk bevjrsj c sjoknbc bjffc akrlc. Njffj akrlj 4 k njffj ? pe ircve

    sknk spjssk prjsjnte oklpfeocnzj rjsperctkrej okn oklprklesseknj be

    unc jaocoj jspjttkrczeknj jb cftjrczekne bjffc aunzekncfet rjsperctkrec

    fjictc cffc bjdkfjzzc bje lusokfe rjsperctkre omj c vkftj bjtjrlenc epk-

    vjntefczeknj nktturnc. Cftrj oklpfeocnzj sknk fc oklpcrsc be sokfekse j

    be rjtrczekne kstjk-crteokfcre.

    _enbrkle lecstjneomj8 fj oklpfeocnzj pe ircve reiucrbcnk sjine lec-

    stjneoe c ocreok bje lusokfe bjffc bjifutezeknj j rjsperctkre.

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    BECINK_E

    Bestrkac lusokfcrj be Buomjnnj8 nje dcldene lkftk peookfe fetjr

    becinksteok vejnj c vkftj cvvectk c pcrterj bcf resokntrk ocsucfj be unculjntk bjf fevjffk be O@ njf scniuj. Nje dcldene pe ircnbe vjniknk

    resokntrctj beaokft lktkrej okn ocbutj arjqujnte. E sjine ofeneoe jvebjnte

    j ef nktjvkfj culjntk bjffj O@ sjreomj (cfljnk 37 vkftj e vcfkre nkrlcfe)

    pkrtcnk cffc jsjouzeknj be dekpsec lusokfcrj j/k cncfese ijnjteoc.

    Ctrkac lusokfcrj spencfj8 e sjine ofeneoe be qujstc lcfcttec, unete cf

    resokntrk be cftjrczekne tepeomj cffc JLI, sknk en ijnjrj pctkinklkneoe

    lc fc becinkse bjvj jssjrj oknajrlctc bcffenbcienj ijnjteoc.

    _enbrkle lecstjneomj8 e tjst jfjttrksekfkieoe (stelkfczekne repjtetevj j

    nje skiijtte okffcdkrcnte JLI c senikfc drc) j fj cftjrczekne sejrkfkie-

    omj sknk elpkrtcnte pjr fc becinkse. Njffc lecstjnec ircves ife cnteokrpe

    cnte-rjojttkre okfenjrieoe se trkvcnk njf sejrk bjf 57% bje pczejnte okn

    lecstjnec ijnjrcfezzctc, lc skfk njf :7% bje pczejnte caajtte bcffc akrlc

    koufcrj0 ef fevjffk bjife cnteokrpe nkn se okrrjfc okn fc ircvet bjffc lc-

    fcttec. Fc RCO j fc TLN bjf ljbecstenk pkssknk bkouljntcrj en cfoune

    ocse fcsskoeczeknj be telkle.

    RTCRRCLJNRK

    Bestrkac lusokfcrj spencfj8 cf lkljntk nkn jsestj unc tjrcpec resk-futevc pjr fc lcfcttec lc njife uftele cnne sknk stcte ensjrete nuljrkse

    cookrieljnte becinksteoe j tjrcpjuteoe sentklcteoe omj mcnnk culjntctk

    nktjvkfljntj fc skprcvvevjnzc j fc qucfet be vetc. Sujste oklprjnbknk

    fc vcfutczeknj bjffc aunzekncfet rjsperctkrec en sknnk pjr ef reoknksoe-

    ljntk prjokoj bjffenskrijnzc be sjine be epkvjntefczeknj nktturnc

    omj, sj prjsjntj, njojssetc be trcttcljntk okn vjntefczeknj nkn cssestetc.

    Njffj acse pe cvcnzctj bjffc lcfcttec scr njojsscrec unc vjntefczeknjljoocneoc cssestetc.

    Ef trcttcljntk be sojftc nje prele sjine be ocrbeklekpctec befctctevc qujffk

    okn COJ-enedetkre j njife uftele cnne stctk suiijretk omj fenezek prjokoj

    bjffc tjrcpec pkssc cvjrj un seineoctevk jaajttk prktjttevk suf oukrj.

    Qcre stube mcnnk cnomj belkstrctk unc besorjtc jaocoec bjife stjrkebe

    njf rcffjntcrj fc prkirjsseknj bjffc lcfcttec.

    Ctrkac lusokfcrj spencfj8 nkn jsestj unc ourc en ircbk be sokniijrj

    fc lcfcttec j ife uneoe prjsebe tjrcpjuteoe sknk fjicte cffc prjvjnzeknj

    bjffj oklpfeocnzj okn tjrcpec seoc, j fusk be cusefe krtkpjbeoe. Cnomj

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    nje dcldene okn ctrkc lusokfcrj spencfj njojsscrec fc vcfutczeknj

    bjffc aunzekncfet rjsperctkrec en sknnk pjr ef reoknksoeljntk prjokoj

    bjffenskrijnzc be sjine be epkvjntefczeknj nktturnc omj njojssetc be

    trcttcljntk okn vjntefczeknj nkn cssestetc.

    _enbrkle lecstjneomj8 jsestj unc tjrcpec sentklcteoc bjffc lecstjnec

    ircves omj oknsestj njffc skllenestrczeknj be acrlcoe cnteokfenjstjrcseoe

    omj leifekrcnk fc oknbuzeknj bjffk stelkfk c fevjffk bjffc ieunzeknj nju-

    rklusokfcrj8 se utefezzc qucse uneocljntj ef drklurk be perebksteilenc

    (L). Jsestj pke unc tjrcpec ocuscfj omj lerc c feletcrj fczeknj

    bjf sestjlc ellunetcrek, se uscnk quenbe okrteokstjrkebe (skprcttuttk

    prjbnesknj), (Bpjr vec krcfj), j acrlcoe ellunkskpprjsskre

    oklj fczctekprenc.

    Dedfekircac jssjnzecfj

    - @cni WD, Lkrreskn F, jt cf. Iuebjfenj Bjvjfkpljnt _udokllettjj ka tmj

    Cljreocn Cocbjly ka Njurkfkiy cnb tmj Wrcoteoj Essujs Tjvejw Wcnjf katmj Cljreocn Csskoectekn ka Njurklusoufcr & Jfjotrkbecinksteo Ljbeoenj.

    Njurkfkiy. 473:0=283?15-9=.