Spinal kwemisipha yoma: Izimpawu kanye Ukwelashwa

Spinal yoma kwemisipha kuzibonakalisa ingane isencane. Izimpawu zokuqala zingavela kudala njengoba 2-4 izelwe. Lena isifo ngofuzo esibonakala by yokuthi ubuchopho stem ezinzwa kancane kancane bafe.

izinhlobo zezinkinga

Kuye lapho izimpawu zokuqala zesifo, kobukhulu kanye nohlobo ukugeleza izinguquko atrophic ukuhlonza izinhlobo eziningana izifo.

Spinal yoma kwemisipha kungaba ziphenduke:

- uhlobo lokuqala: acute (Ifomu Verdiga-Hoffmann);

- uhlobo lwesibili: Lesisemkhatsini (kwezinsana, zezifo ezingelapheki);

- uhlobo lwesithathu: ifomu Kugelberg-Welander isifo (okungamahlalakhona, engamahlongandlebe).

Izinhlobo ezintathu izifo ezifanayo zaba khona nokucabanga ochwepheshe ngenxa ukuguquka kwezakhi zofuzo ahlukene kwelinye futhi isakhi sofuzo esisodwa. Spinal yoma kwemisipha kuyinto isifo sokuhlasela kwamasosha omzimba ukuthi kwenzeka uma ifa zezakhi zofuzo ezimbili esikhubazayo, omunye kumzali ngamunye. ingxenye Mutational 5 uku-chromosome. Kuyinto khona kuwo wonke abantu 40. Isakhi sofuzo esiyimbangela yalesi ngamakhodi iprotheni kuqinisekisa ukuba khona Izinzwa emgogodleni. Uma le nqubo iphazamisekile, lo izinzwa afe.

Verdin-Hoffmann isifo

Usola inkinga kungaba ngesikhathi sokukhulelwa. Uma ingane eba umgogodla kwemisipha yoma uhlobo 1, ngokuvamile baphawula evilaphayo kanye ngasekupheleni ukunyakaza kwengane ngesikhathi sokukhulelwa. Ngemva kokuzalwa, odokotela bangathola ukuthi ukuxilonga generalized hypotonia kwemisipha.

Yoma ziqala ukuvela ezinyangeni zokuqala zokuphila. Ngokuvamile ku proximal iphuzu fascicular ukudikiza kwemisipha emhlane, isiqu, emikhawulweni. Futhi ebuka futhi bulbar iziyaluyalu. Lezi zihlanganisa oncelayo abampofu, ukukhala ababuthakathaka, ukugwinya kahle. Izingane nalesi sifo ngokuvamile Verdin-Hoffmann waphawula ukwehla le ukuhlanza, ukukhwehlela, pharyngeal, ikhaliphe palatal. Baphinde futhi baphawule fibrillation imisipha namalimi wemiphakathi.

Kodwa lokho akuyona yonke izimpawu ngawo umgogodla yoma kwemisipha kungaba azimisele. Izimpawu sici uhlobo isifo 1 zihlanganisa ngobuthakathaka intercostal imisipha. Kulesi esifubeni ifana izingane isicaba.

Ezinyangeni zokuqala zokuphila, izingane ezinjalo kaningi uhlushwa izifo zokuphefumula, inyumoniya futhi sinamaphupho afanayo.

Sitholakele isifo Verdin-Hoffmann

Anqume isifo kungenzeka uma ukuba bahlole ingane. Kunezindlela eziningana izimpawu zokwelapha okuyiwona ochwepheshe kungacacisa ukuthi ingane ngofuzo umgogodla yoma kwemisipha. Sifo kuhlanganisa:

- ukuhlaziywa kwamakhemikhali kwegazi (kuyothiwa banda kancane in creatinine phosphokinase futhi aldolase);

- cwaningo electromyographic (kokunqotshwa izimpondo anterior ka emgogodleni izobonisa isigqi stockade);

- luhlolo histological of imisipha lwamathambo (ezikhonjwe amahlukuzo oyindilinga fibre elincane).

umgogodla Microscopy (anterior yayo uphondo) libonisa ukuthi kunezinto izinguquko esiwohlozayo e motor nuclei of izinzwa cranial. Kukhona ukuvuvukala globular kanye / noma ukuncipha motor amaseli, microglial futhi ayanda astrocytic, hromatolizis. Lesi senzakalo ahambisana ukubukeka imicu obukhulu glial.

Kubalulekile lokwenza ukuxilongwa umehluko ukubekela eceleni aciduria organic, myopathy azalwa naso noma kwesakhiwo Ngokwesibonelo pemalinovuyu, miotubulyarnuyu myopathy noma isifo se-induku emaphakathi.

Ukubikezela yoma uhlobo mina

Kuye kube sezingeni ukulimala, Verdin-Hoffmann sifo ukuzibonakalisa ezinsukwini zokuqala ngemva kokuzalwa. Ongoti baze ku isimo ingane kungenziwa bazitshela ukuthi anakho umgogodla yoma kwemisipha. Izithombe izingane zifana: bayilalela frog pose. Nemilenze kule hip nesiphanga emalungeni osibekele, futhi indololwane nedolo - insaliwe.

Okokuqala ukuzwela zitholakala proximal imisipha esitho engezansi. Inqubo nolokubhujiswa uya kwi-uplink. Nge ukuqhubeka kwesifo kuthinta imisipha amalaka kanye pharynx. Kwenzeka ukuthi isifo kuzibonakalisa kamuva. Kodwa umngcele kuba engu-6 izinyanga. Izingane zingaqala ngisho ukuthi siphakamise ekhanda lakhe phenduka, kodwa abazange bahlale phansi.

izingane Iningi ngingofayo kusukela inhliziyo, nokuvaleka kwemigudu yokuphefumula, noma izifo onyakeni wokuqala wokuphila. Bangaphezu kuka-70% izingane zifa ngaphambi engu-2. Kufika iminyaka 5 ubudala ophilayo mayelana 10% kulezi zingane.

Yoma Uhlobo II

Kwezinye izimo, kungase kube nezinye zimo. Spinal kwemisipha yoma uhlobo 2 livela kancane kamuva. Ngokuvamile izimpawu zokuqala kuyagcinwa e engu-izinyanga 8-14. Ngenxa yalezi izingane isici is generalized ukuba buthakathaka kwezicubu hypotonia.

Mayelana nesifo abonisa iminwe thinned kokuvela ukuzamazama fascicular e imisipha nemilenze proximal, kule kalula. izingane ezinjalo abe inkathi zikhule kahle. Ziyakwazi baba ubudala uqale ukugcina ikhanda lakho, uhlale phansi. Kodwa alikhulumi self-ukuhamba.

Izingane zingayithola i-ncela niginge evamile, ekuseni usana umsebenzi zokuphefumula is hhayi kahle. Kodwa ngokuhamba kwesikhathi, ukuba buthakathaka kwezicubu iqala ukuba bathuthuke. Ngezinye ubudala amadala, zikhona nobunzima nokugwinya, kukhona ithoni acinene kwezwi. Enye yezinkinga ezivamile in iziguli abalulekile bempilo kuyinto ukugobeka komhlandla.

Onalesi sifo ohlobo II yoma

Naphezu kweqiniso lokuthi ingane ingakha ngokuvamile ezinyangeni zokuqala, isimo uwohloka nge sikhathi. Lapho sengineminyaka engu-izingane ezimbili ezingekho nemilenze ikhaliphe umsipha. Ngo parallel, imisipha intercostal buthaka. Ngenxa yalokho, i-thorax isicaba, imisiwe ukuthuthuka kwemizwa livela.

25% kuphela izingane abaye batholakala bene-umgogodla yoma kwemisipha, kungase ngokwabo nokuhlala noma ukuma nokusekela. izigaba kwesikhathi lesi sifo libhekene kyphoscoliosis ukubukeka. Izingane eziningi zishona abaneminyaka ephakathi kwengu-1 no-4. Izimbangela evamile yokufa kukhona pneumonia noma zokuphefumula ukwehluleka kwemisipha.

Lapho ufaka uphethwe Spinal yoma kwemisipha kuyadingeka lokwenza ukuxilongwa umehluko nge myopathies azalwa naso noma kwesakhiwo, uhlobo atonic-astatic ka-cerebral palsy.

Bangaphezu kuka-70% eziguli aphile iminyaka engaphezu kuka ezimbili. Isilinganiso sobude bokuphila yalezi zingane nxazonke 10-12 iminyaka.

Kugelberg-Welander isifo

Onalesi sifo inani elihle kunawo ezigulini eziye kwatholakala ukuthi une-umgogodla yoma kwemisipha hlobo III. Singasho abaneminyaka engu-20. Ngokuvamile lokhu kuzibonakalisa kuqala kulotshwe encwadini kweminyaka eyi 2-7. Okokuqala ukuzwela imisipha proximal we ukhalo.

Iziguli kokuba ukuhamba, ukugijima, ngivuka kusuka isikhundla nokuzikhulula kanye nesidingo ukugibela izitebhisi. Kubalulekile nokukhumbula ukuthi kubonakaliswa emitholampilo ye isifo kuleli fomu iyafana sokuwohloka okuqhubekayo Becker.

izingxenye proximal sezandla kanye nebhande ehlombe kuthinta eminyakeni embalwa kuphela ngemva izimpawu zokuqala zesifo. Ngokuhamba kwesikhathi, thorax sikhubazekile livela eliqhaqhazelayo fascicular izandla nokuncipha engalawuliwe bezinhlanga ezahlukene kwemisipha. Lokhu kunciphisa umsipha ikhaliphe futhi uqale ethuthuka ithambo ukusonteka. Izinguquko esifubeni, izinyawo, amaqakala ukugobeka komhlandla yomgogodla livela.

Onalesi sifo yohlobo isifo III

Kugelberg-Welander isifo - kuyinto umgogodla kwemisipha yoma abadala. Lesi sifo iminyaka eminingi, eziningana Okwenza lo izimpilo zeziguli, kodwa aliholeli ukukhubazeka kwabo okukhulu. It sanda kancane kancane. Ngakho-ke, abantu abaningi abane-le uphethwe baphile baze babe badala.

Ngaphambi ukwelashwa kubalulekile lokwenza ukuxilongwa umehluko nge dystrophies ahlukahlukene kwemisipha, glycogen isitoreji isifo uhlobo 5 futhi myopathies kwesakhiwo. Kukhona indlela esingasondela ngazo ukunquma yoma umgogodla. Lena ukuhlola DNA ngokuqondile. Kuyadingeka, ngoba ukubonakaliswa emitholampilo ye isifo, Kugelberg-Welander isifo ziyahlukahluka.

Balinganiselwa ku-50% eziguli balahlekelwe ikhono ukuhamba engu-12. Lapho lobu buthakathaka imisipha iqhubeka ngeminyaka kuphela. hypermobility Kubhekiwe futhi contractures ngokuhlanganyela, kukhona amathuba waphuka.

izici ezibalulekile

Njengomthetho, lesi sifo Verdin Hoffmann-kutholakala ezinyangeni zokuqala ezimbalwa ekuphileni. Uma ingane has akukho ukunyakaza kusukela ekuzalweni, awusebenzi ukuphila ngokuvumelana nasezinganeni kolenyanga.

Ubuthakathaka futhi imisipha isakhasa, isandla eliqhaqhazelayo futhi imisiwe ukuthuthuka kwemizwa, futhi kufanele wazise odokotela nabazali. Lezi akuzona zonke izingane eziphathwa sukuma ezinyaweni zawo. Kuphela ingxenye yesine yazo zonke iziguli ongema nokusekela. Izingane ngesihlalo sabakhubazekile.

Kodwa kunzima kakhulu ukuhlonza isifo, Kugelberg-Welander. Ngemva ikota iziguli bazwakalisa hypertrophy kwemisipha. Ngakho-ke, bangase baphethe ngokungeyikho ukuthi unesifo sokuwohloka kwemisipha, esikhundleni umgogodla yoma kwemisipha. Izimbangela lesi sifo sasungulwa 1995, lapho kwaba angakwazi ukuhlonza lezo soguquko lwegciwane singalawuleka isakhi sofuzo smn. ukususwa Cishe zonke iziguli homozygous kwenzeka SMN7, libhekene ukulahlekelwa telomeric ezimbili amakhophi isakhi sofuzo kanye yayinjalo amakhophi centromeric.

amacebo yokwelashwa

Ngeshwa, umgogodla yoma kwemisipha kuyinto isifo sokuhlasela kwamasosha omzimba, engeke ize isebenze ukuvimbela ukuthuthukiswa. Saba nzima isimo yokuthi akukho oluthile lokwelapha.

Kwezinye izimo, odokotela kuphela ukukhokhela ukukhululeka okuthile ebuhlungwini isimo iziguli ngosizo Physiotherapy. Thuthukisa izinga lokuphila kwabo ngu zikagesi ethize wamathambo.

Ngokukhethekile kufanele kukhokhelwe yokudla iziguli anjalo. Yandise ebekiwe izidakamizwa ezingaba ngcono umzimba. Kodwa lokho akuyona yonke into engenziwa uma umgogodla yoma kwemisipha siqinisekisiwe. Ukwelashwa siqukethe ekumisweni yokuzivocavoca. Ukuvivinya umzimba kubalulekile kulezi ziguli. Ziyakwazi ezidingekayo ukuze ngcono ukusebenza kwemisipha ukwandisa mass yabo. Nokho, umthwalo kumele libalwe udokotela wakho. Kulokhu, imfundo ngokomzimba kuyinto nomthelela ezuzisayo phezu kwawo wonke umzimba. Effect Its tonic isobala. Engabelwa kulo lingaba zokwelapha noma yokuhlanzeka ekuseni yokuzijwayeza, umsebenzi emanzini noma nje massage ngokubhukula.