47_malattie neuromuscolari in età pediatrica optimized
TRANSCRIPT
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7/25/2019 47_Malattie Neuromuscolari in Et 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=.