progressiruyushie mishechnie distrofii

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slayd 1 progressiruyushie mishechnie distrofii progressiruyushie mishechnie distrofii (pmd) geterogennaya gruppa nasledstvenno obuslovlennix nervno-mishechnix zabolevaniy, xarakterizuyushixsya progressiruyushey mishechnoy slabostyu, atrofiey mishts, dvigatelnimi narusheniyami pervoy nauchnoy publikatsiey, soderjashey opisanie bolnogo s miodistrofiey, sleduet schitat rabotu angliyskogo anatoma i xirurga charlza bella, izdannuyu v 1830g. (bell c. the nervous system of the human body: as explained in a series of papers read before the royal society of london. – edinburgh: adam & charles black, 1830) on opisal molodogo cheloveka 18 let s progressiruyushey poterey mishechnoy massi i slabostyu, debyutirovavshey v 10-letnem vozraste. gistoximicheskaya klassifikatsiya pmd sarkolemmnie miopatii: distrofinopatii sarkoglikanopatii distroglikanopatii kaveolinopatii disferlinopatii plektinopatiya matriksnie miopatii: merozin-defitsitnaya emerinopatii laminopatii strukturnie miopatii: nemalinovie miopatii titinovie miopatii miotilinovie miopatii klassifikatsiya pmd 1. x-stseplennie mishechnie distrofii 1.1. miodistrofiya dyushenna i bekkera (distrofinopatii) 1.1.1. distrofinopatiya u devochek s sindromom ternera 1.1.2. distrofinopatiya u manifestnix geterozigot 1.2. redkie formi x-stseplennix miodistrofiy 1.2.1. miodistrofiya emeri - dreyfusa (emerinopatii) 1.2.2. …

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2.3.6. kpmd 1e (s parezom gortani, glotki i distalnix mishts) 2.3.7. kpmd 2a (kalpainopatii) 2.3.8. kpmd 2v (disferlinopatii) 2.3.9. kpmd 2s, 2d, 2e (sarkoglikanopatii - tyajelaya detskaya autosomno-retsessivnaya miopatiya) 2.3.12. kpmd 2f (sarkoglikanopatii) 2.3.13. kpmd 2g 2.3.14. kpmd 2n 2.3.15. mishechnaya distrofiya plechevogo i tazovogo poyasa s bulleznim epidermolizom 2.4. miodistrofiya betlema ar ad 2.5. distalnie miodistrofii 2.5.1. distalnaya md s nachalom v grudnom vozraste 2.5.2. distalnaya md s nachalom v detstve (goversa) 2.5.3. distalnaya md s pozdnim debyutom (tipa velander) 2.5.4. distalnaya md s rannim nachalom u vzroslix (tipa mioshi) 2.5.5. distalnaya md s nakopleniem desminovix vklyucheniy (nonaka) 2.5.6. tibialnaya md («finskaya») 2.6. okulofaringealnaya miodistrofiya 2.7. okulyarnaya miodistrofiya (progressiruyushaya narujnaya oftalmoplegiya grefe) miopaticheskiy simptomokompleks simmetrichnaya proksimalnaya mishechnaya slabost, postepennoe razvitie atrofiy zatrudnenie pri xodbe po lestnitse priemi goversa pri vstavanii «utinaya» perevalivayushayasya poxodka (xromota trendelenburga) poyasnichniy giperlordoz «osinaya» taliya krilovidnie lopatki (slabost peredney zubchatoy i dr. mishts) sindrom «svobodnix …

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nevozmojno. varianti techeniya pmd 1) neblagopriyatniy variant — obezdvijennost cherez 5—10 let ot nachala bolezni, bistroe narastanie narusheniya jiznedeyatelnosti, invalidizatsii; 2) sredniy temp progressirovaniya — cherez 10—15 let imeyutsya virajennie dvigatelnie narusheniya, prognoz v otnoshenii vozmojnosti samoobslujivaniya ploxoy; 3) medlenniy temp progressirovaniya — cherez 10—15 let ot nachala bolezni net virajennix dvigatelnix narusheniy, bolnoy svobodno peredvigaetsya, trudovoy prognoz na blijayshie godi otnositelno blagopriyaten, vozmojna chastichnaya trudovaya adaptatsiya, inogda opravdano professionalnoe obuchenie. miodistrofiya dyushenna frantsuzskiy nevrolog julem bendjamin amand dyushenn vpervie opisal zabolevanie v 1861 g. guillaume benjamin amand duchenne miodistrofiya dyushenna naibolee rasprostranennaya forma pmd. zabolevaemost - 13–33 sluchaya na 100 000 rodivshixsya. tip nasledovaniya: ar, x- stseplenniy. geni kartirovani na korotkom pleche x-xromosomi, v 21-m lokuse (xr21). v osnove - narushenie sinteza distrofina: deletsii gena distrofina razlichnoy protyajennosti, 5-10% sluchaev – duplikatsiyami chasti gena, u ostalnix - tochkovie mutatsii. proksimalnie deletsii gena chashe viyavlyayutsya pri semeynix formax bolezni, distalnie …

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ogo, togda kak pri bolezni bekkera on kolebletsya ot 3 do 20 % patogenez pri sokrashenii mishechnogo volokna proisxodit «skoljenie» sokratitelnix belkov otnositelno drug druga, kotorie doljni bit fiksirovani k sarkolemme. distrofin neposredstvenno primikaet k ney iznutri, yavlyayas sostavnoy chastyu t.n. «distrofin-assotsiirovannogo proteinovogo kompleksa» (dapc). etot kompleks prikreplyaet sokratitelnie belki mishechnogo volokna k sarkolemme i drugim mishechnim voloknam (vnekletochnomu matriksu) posredstvom drugix belkovix kompleksov. mishechnie volokna s nedostatochnim soderjaniem distrofina bistro razrushayutsya. protsess kompensiruetsya za schyot obrazovaniya novix mishechnix volokon, no s techeniem vremeni degenerirovavshie volokna zameshayutsya jirovoy i soedinitelnoy tkanyu. v nebolshix kolichestvax distrofin predstavlen v serdechnoy mishtse, gladkoy muskulature i tsns. immunopatologicheskie mexanizmi: xronicheskiy vospalitelniy protsess i narushenie protsessov regeneratsii. reaktsii vospalitelnogo kaskada zapuskayutsya vskore v 8-10 mesyachnom vozraste. defekt lipidnogo bisloya sarkolemmi -> povishenie eyo pronitsaemosti, osobenno pri mishechnom napryajenii -> -> vnutrikletochnaya kfk vixodit v krov, vnekletochniy sa2+ ustremlyaetsya v miotsiti. klinika pmd dyushenna techenie pmd …

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eme na lestnitsu, izmenenie poxodki po tipu «utinoy». vstavanie proisxodit poetapno s aktivnim ispolzovaniem ruk - «vzbiranie lesenkoy» ili «vzbiranie po samomu sebe». tipichnie jalobi roditeley — xodba detey na paltsax i chastie padeniya. retraktsiya axillovix suxojiliy ne pozvolyaet polnotsenno opiratsya na pyatki, chto opredelyaet xodbu na paltsax («generalskaya poxodka») mejdu 3 i 8 godami narastaet ukorochenie pyatochnix suxojiliy, formiruyutsya sgibatelnie kontrakturi v golenostopnix sustavax, razvivayutsya poyasnichniy giperlordoz, kifoskolioz grudnogo otdela pozvonochnika. pmd dyushenna. xarakternaya poza pri stoyanii, rodnie bratya 4 i 6 let glubokie refleksi izmenyayutsya s razlichnoy posledovatelnostyu. na rannix stadiyax ischezayut kolennie refleksi, pozje - refleksi s dvuglavoy i trexglavoy mishts. axillovi refleksi dlitelnoe vremya ostayutsya soxrannimi. xarakterni simmetrichnaya i neuklonno progressiruyushaya slabost v mishtsax beder i plechevogo poyasa, zatrudnyayushaya dvijeniya pri pod'eme, bege, prijkax, atrofiya mishts preimushestvenno tazovogo poyasa i beder, psevdogipertrofiya ikronojnix mishts psevdogipertrofiya ikronojnix mishts sozdaet obmanchivoe vpechatlenie o soxrannosti mishechnoy sili, raduet roditeley. …

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slayd 1 progressiruyushie mishechnie distrofii progressiruyushie mishechnie distrofii (pmd) geterogennaya gruppa nasledstvenno obuslovlennix nervno-mishechnix zabolevaniy, xarakterizuyushixsya progressiruyushey mishechnoy slabostyu, atrofiey mishts, dvigatelnimi narusheniyami pervoy nauchnoy publikatsiey, soderjashey opisanie bolnogo s miodistrofiey, sleduet schitat rabotu angliyskogo anatoma i xirurga charlza bella, izdannuyu v 1830g. (bell c. the nervous system of the human body: as explained in a series of papers read before the royal society of london. – edinburgh: adam & charles black, 1830) on opisal molodogo cheloveka 18 let s progressiruyushey poterey mishechnoy massi i slabostyu, debyutirovavshey v 10-letnem vozraste. gistoximicheskaya klassifikatsiya pmd sarkolemmnie miopatii: di...

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