Duchenne npag dystrophy. raws roj ntsha cov kab mob

Muaj ntau ntau txawv cov kab mob uas tshwm sim nyob rau hauv cov me nyuam, tsis hais yam los yog ib puag ncig ntawm kev siv. Pawg no yog ib yam uas raws roj ntsha cov kab mob. Tam sim no peb yuav tham txog tej teeb meem raws li npag dystrophy Duchenne yog dab tsi no mob li ntawd, yog dab tsi nws cov tsos mob thiab seb koj muaj peev xwm nrog nws.

terminology

Chiv, koj yuav tsum paub dab tsi yog qhov raws roj ntsha kab mob. Yog li ntawd, cov no yog cov kab mob uas tshwm sim raws li ib tug tshwm sim uas tsis xws luag nyob rau hauv raws roj ntsha apparatus ntawm lub hlwb. Hais tias yog, nws yog tej yam failures uas tshwm sim nyob rau hauv cov kev tshuaj ntsuam genetic theem.

Duchenne npag dystrophy - qhov no yog ib tug hereditary mob. Nws zoo nkaus li sai heev, lub ntsiab tsos mob nyob rau hauv cov ntaub ntawv no - yog ib tug sai hnyav nqaij tsis muaj zog. Nws yuav tsum tau muab sau tseg: zoo li tag nrho lwm cov nqaij kab mob, Duchenne tus kab mob kuj ua rau zaum kawg tshwm sim rau nqaij Atrophy, kev cuam tshuam ntawm lub cev muaj zog cov kev txawj thiab, ntawm chav kawm, kev tsis taus. Nyob rau hauv thaum tiav hluas, cov me nyuam nrog rau qhov no mob tsis muaj lub peev xwm yuav tawm mus ntawm nws tus kheej thiab yuav tsis ua li cas tsis pab.

Yuav ua li cas tshwm sim nyob rau hauv cov kev tshuaj ntsuam genetic theem

Raws li twb tau sau tseg, Duchenne npag dystrophy - ib tug kev tshuaj ntsuam genetic tus kab mob. Piv txwv li, ib tug hloov nyob rau hauv lub noob uas yog lub luag hauj lwm rau zus tau tej cov tshwj xeeb protein dystrophin. Hais tias nws yuav tsum tau rau qub nqaij fibers. Nws yog ib qho tseem ceeb yuav tau nco ntsoov hais tias cov kev tshuaj ntsuam genetic hloov yuav yog pub los yog tshwm sim nthawv.

Nws tseem ceeb heev kom nco ntsoov tias lub noob yog laus rau chromosome X. Tab sis cov poj niam uas tus kab mob no yuav ua tsis tau mob, raws li cov tsuas transmitter ntawm change los ntawm tiam mus rau tiam. Uas yog, yog hais tias tus niam yuav kis tau tus hloov rau nws tus tub, nws yog ib tug 50% ntau yam ntawm mob. Yog hais tias ib tug hluas nkauj, nws twb cia li mus yuav ib cov cab kuj los ntawm cov noob, tus soj ntsuam kom paub txog tus kab mob no nws yuav tsis.

Symptomatology: Group

Yeej, tus kab mob no yog kev koom asserting nws tus kheej nyob rau hauv txog 5-6 xyoo ntawm lub hnub nyoog. Txawm li cas los, cov thawj tsos mob tej zaum yuav tshwm sim nyob rau hauv ib tug me nyuam uas tsis tau txog lub hnub nyoog ntawm peb. Nws yuav tsum tau muab sau tseg tias tag nrho cov pathological mob Medco conventionally faib ua ob peb pawg loj:

1. nqaij tsis tau.
2. Kev puas tsuaj rau lub plawv mob.
3. tus me nyuam lub skeletal deformity.
4. Ntau endocrine ntshawv siab.
5. Kev cuam tshuam ntawm kev puas hlwb kev ua si.

Feem ntau ces ntawm tus kab mob

Nco ntsoov yuav tsum tau tham txog yuav ua li cas qhia nws Duchenne syndrome. Cov tsos mob yog raws li nram no:

• Tsis muaj zog. Uas yog maj loj hlob, evolving.
• Pib hnyav leeg tsis muaj zog yog mus rau lub sab sauv extremities, ces kov nws ob txhais taw, thiab xwb ces - tag nrho lwm qhov chaw ntawm lub cev thiab nruab nrog cev.
• Tus me nyuam poob rau hauv lub peev xwm yuav tawm mus nws tus kheej. Thaum txog 12 xyoo ntawm lub hnub nyoog cov me nyuam no twb lig nyob rau ntawm ib rooj log.
• Tsis tas li ntawd, muaj cov mob ntawm lub pa system.
• Thiab, ntawm chav kawm, muaj cov irregularities nyob rau hauv lub plawv system. Tom qab ntawd, irreversible hloov nyob rau hauv lub myocardium.

Nyob rau lub yeej ntawm skeletal leeg

Qhov ntawd puas tsuaj ntawm tej nqaij - lub feem ntau cov tsos mob, yog hais tias peb yuav tau tham txog tej teeb meem raws li Duchenne lub syndrome. Nws yuav tsum tau muab sau tseg tias cov mos ab yug los tsis muaj hloov nyob rau hauv txoj kev loj hlob. Thaum ib tug hluas uas muaj hnub nyoog cov me nyuam muaj tsawg kom nquag plias thiab mobile tshaj cov phooj ywg. Tab sis feem ntau nws yog txuam nrog rau cov siab luv thiab cov ua cim ntawm tus me nyuam. Yog li ntawd hloov yog heev tsis tshua pom. Tseem ceeb tshaj cov tsos mob tshwm sim twb thaum lub sij hawm tus me nyuam tam sim ntawd. Tej cov me nyuam muaj peev xwm taug kev saum ntiv taw xoo, tsis ua ib tug tag nrho cov nres. Tsis tas li ntawd, lawv feem ntau lub caij nplooj zeeg.

Thaum tus tub muaj peev xwm twb hais tias nws lossi yws ntawm tsis muaj zog, mob nyob rau hauv lub nqua, qaug zog. Cov khoom noj tsis xav khiav, dhia. Tej lub cev load lawv tsis nyiam, thiab lawv ua kom tsis txhob nws. "Yuav kom hais" hais tias cov me nyuam Duchenne npag dystrophy, yuav txawm taug kev. Nws ua zoo li ib tug os. Cov tub hluas, raws li nws twb transshipped los ntawm ko taw mus rau ko taw.

Ib tug tshwj xeeb qhov taw qhia kuj yog ib tug cov tsos mob ntawm Gowers. Qhov ntawd yog ib tug me nyuam nce mus los ntawm hauv pem teb, muaj kev koom siv nws ob txhais tes, raws li yog hais nce toj nws tus kheej.

Nws yuav tsum tau muab sau tseg tias muaj xws li ib tug teeb meem raws li Duchenne lub syndrome, tus me nyuam maj mam atrophied leeg. Tiam sis feem ntau nws tshwm sim hais tias lub crumbs externally nqaij zoo heev lawm. Tus tub txawm mus rau tus thawj vskidku tshwm li yog pumped. Tab sis qhov no yog tsuas yog ib tug optical illusion. Qhov no yog hais tias nyob rau hauv lub chav kawm ntawm tus kab mob nqaij fibers maj zom, thiab lawv qhov chaw yog nyob los ntawm cov adipose cov ntaub so ntswg. Li no, xws li ib impressive tsos.

Ib me ntsis ntawm skeletal deformities

Yog hais tias tus me nyuam muaj hnyav npag dystrophy, maj mam, tus tub hluas yuav hloov qhov zoo ntawm lub cev pob txha. Thawj pathology muaj feem xyuam rau lub lumbar cheeb tsam, ces muaj qhov khoov pob, piv txwv li thoracic tus txha nqaj curvature tshwm sim. Tom qab ntawd tshwm sim khoov, thiab, ntawm chav kawm, yuav hloov lub qub zoo ntawm ko taw. Tag nrho cov no cov tsos mob rau ib tug ntau dua twg yuav tsum tau nrog los ntawm ib tug deterioration ntawm lub cev muaj zog ua si ntawm tus me nyuam.

Hais txog cov kev mob plawv

Yuav tsum mob nyob rau hauv tus kab mob no yog tseem kev puas tsuaj rau lub plawv mob. Yog ib tug ua txhaum ntawm ib tug lub plawv atherosclerosis, muaj tsis tu ncua cov ntshav siab ncos. Nyob rau hauv cov ntaub ntawv no, lub plawv hlob nyob rau hauv loj. Tab sis nws functionality on qhov tsis tooj, poob. Thiab raws li ib tug tshwm sim ntawm lub plawv tsis ua hauj lwm yog maj tsim. Yog hais tias qhov teeb meem yog tseem ua ke nrog ua pa tsis ua hauj lwm, muaj ib tug siab ntau yam ntawm txoj kev tuag.

Kev ua txhaum ntawm kev txawj ntse kev ua si

Nws yuav tsum tau muab sau tseg tias Duchenne npag dystrophy, Becker li tsis nco ntsoov manifest cov tsos mob xws li kev puas hlwb ruamqauj. Nws tej zaum yuav nrog nrog tsis muaj peev xwm ntawm xws tshuaj raws li apodistrofin tsim nyog rau lub hlwb muaj nuj nqi. Intellectual tsis taus yuav ua tau heev txawv - los ntawm me me hlwb ruamqauj rau idiocy. Ntsuas ntawm peev xwm puas muaj txhawb mus txawm lub cev tsis mus kawm kindergartens, cov tsev kawm ntawv, tej pab pawg thiab lwm qhov chaw uas cov me nyuam. Cov no cais.

Mob ntawm lub endocrine system

Ntau endocrine ntshawv siab tshwm sim nyob rau hauv tsis muaj ntau tshaj li 30-50% ntawm tag nrho cov neeg. Feem ntau cov feem ntau nws yog tus tshaj qhov hnyav, kev rog. Yog li cov me nyuam mos kuj tsawg dua cov phooj ywg txoj kev loj hlob.

kab mob tshwm sim

Yuav ua li cas yog tus soj ntsuam thiab epidemiological yam ntxwv ntawm Duchenne npag dystrophy? Yog li, cov xwm txheej ntawm tus kab mob - 3.3 neeg mob ib 100 txhiab noj qab nyob zoo neeg. Nws yuav tsum tau muab sau tseg hais tias nqaij Atrophy yog maj progressing, thiab lub 15-xyoo-laus lub hnub nyoog ib tug me nyuam tub tsis tau ua yam uas tsis muaj kev pab los ntawm lwm tus neeg, raug kiag li immobilized. Rau tag nrho cov, muaj kuj yog ib tug heev kev twb kev txuas ntawm ntau yam kab mob kab mob (feem ntau cia li urogenital thiab ua pa tshuab), yog hais tias tsis zoo tu rau tus me nyuam bedsores tshwm sim. Yog hais tias muaj teeb meem nrog cov pa system kev cob cog rua nrog lub plawv tsis ua hauj lwm, nws threatens tuag. Yog hais tias peb tham nyob rau hauv Feem ntau, cov neeg mob no yuav luag yeej tsis nyob ntau tshaj 30 xyoo.

mob ntawm tus kab mob

Yuav ua li cas kho mob yuav pab denoted nrog ib tug mob ntawm "Duchenne npag dystrophy"?

1. Tshuaj ntsuam genetic testing, uas yog, qhov DNA tsom xam.
2. Electromyography, thaum paub tseeb hais tias los ntawm qhov kev hloov nyob rau hauv cov thawj cov leeg.
3. Nqaij me thaum muaj kev txiav txim ntawm lub xub ntiag ntawm lub dystrophin protein nyob rau hauv cov nqaij.
4. Ib tug ntshav mus kuaj seb puas muaj tus qib ntawm creatine. Nws yuav tsum tau muab sau tseg hais tias qhov no enzyme qhia txoj kev tuag ntawm cov nqaij fibers.

kev kho mob

Nkaus rov qab los ntawm tus kab mob no yog tsis yooj yim sua. Ib tug yuav tsuas pab cov tsos mob uas tus neeg mob yuav ua rau lub neej yooj yim me ntsis thiab ntau yooj yim. Yog li ntawd, tom qab muab tus neeg mob xws li ib tug mob, feem ntau nws yog tshuaj kho glyukokortikosterodami uas yog tsim los qeeb qhov kev kawm ntawm tus kab mob no. Lwm yam txheej txheem uas tej zaum yuav siv tau rau qhov teeb meem no:

• Ntxiv cua.
• Therapy tshuaj, uas yog tswj cov normalization ntawm lub plawv mob.
• Cov kev siv ntawm ntau yam pab kiag li lawm uas txhim khu neeg mob muaj.

Nws tseem yog ib qho tseem ceeb kom nco ntsoov tias qhov tseeb uas yog txoj kev niaj hnub no uas yog raws li nyob rau hauv noob txoj kev kho thiab qia cell transplantation.

Lwm yam npag cov kab mob

Nws tseem muaj lwm congenital nqaij kab mob ntawm cov me nyuam. Tej cov kab mob xws li, nyob rau hauv tas li ntawd mus Duchenne dystrophy:

• Becker dystrophy. Tus kab mob no yog heev uas zoo sib xws rau Duchenne lub syndrome.
• Npag dystrophy Dreyfus. Nws yog ib tug maj mam progressing kab mob nyob rau hauv uas lub kev txawj ntse yog khaws cia.
• Progressive npag dystrophy, Erb-Rot. Manifests nws tus kheej nyob rau hauv kev ua hluas, ceev ceev kom vam meej, kev tsis taus los thaum ntxov.
• Glenohumeral-lub ntsej muag daim ntawv Landuzi-Dejerine thaum laus leeg tsis muaj zog ntawm lub ntsej muag, xub pwg nyom.

Nws yuav tsum tau muab sau tseg hais tias nyob rau hauv ib yam ntawm cov kab mob tsis qhia leeg tsis muaj zog nyob rau hauv tus me nyuam mos. Tag nrho cov tsos mob tshwm sim mas nyob rau hauv thaum tiav hluas. Lub caij ntawm lub neej ntawm cov neeg mob feem ntau tsis pub dhau 30 xyoo.