Koj tus me nyuam puas zoo li tsis muaj sia nyob? Cia peb kawm txog qhov '(Congenital Muscular Dystrophy - CMD)' no!

Koj tus menyuam mos puas xav tias nws qaug zog heev, zoo li nws tsis muaj sia nyob? Tej zaum tus menyuam quaj mos mos heev, thiab nws txhais ceg tsis txav ntau? Yog tias koj pom ib yam dab tsi zoo li no, koj yuav tsum txhawj me ntsis. Vim tias nws yuav yog ib qho cim qhia txog tus kab mob leeg tsis tshua muaj hu ua '(Congenital Muscular Dystrophy)', lossis '(CMD)' luv luv, uas muaj thaum yug los.

Kab mob nqaij ntshiv tsis zoo txij thaum yug los (Congenital Muscular Dystrophy - CMD) yog dab tsi?

Hais yooj yim xwb, Kab mob Congenital Muscular Dystrophy yog ib pawg kab mob uas ua rau cov leeg tsis muaj zog uas pib thaum yug los lossis sai sai tom qab yug los. Lo lus 'congenital' txhais tau tias 'muaj txij thaum yug los'. Qhov no yog ib qho mob ntev uas tau txais los ntawm niam txiv, txhais tau tias nws tuaj yeem kis tau los ntawm ib tiam mus rau ib tiam. Qhov no ua rau cov leeg tsis muaj zog maj mam, thiab lwm yam tsos mob kuj tseem yuav tshwm sim. Qhov tsis muaj zog ntawm cov leeg no kuj tseem yuav nce ntxiv raws sijhawm.

Cov hom tseem ceeb ntawm `(CMD)` yog dab tsi?

Tam sim no cia peb saib, muaj ntau hom kab mob "(CMD)" no. Cov kws kho mob faib cov hom no raws li cov noob caj noob ces uas raug cuam tshuam. Cia peb tham txog ob peb hom tseem ceeb:

• Cov kab mob Laminin-alpha 2-related muscular dystrophies (LAMA2): Qhov no yuav cuam tshuam rau ntawm 10% thiab 37% ntawm cov neeg uas muaj CMD. Cov menyuam yaus uas muaj tus mob no yuav tsis taug kev tau li thaum ntxov. Lawv kuj tseem yuav muaj teeb meem hais lus vim lub ntsej muag tsis muaj zog thiab tus nplaig loj (macroglossia). Kwv yees li ib feem peb ntawm cov menyuam yaus yuav muaj qaug dab peg.
• Dystroglycanopathies (DGPs): Qhov no kuj tshwm sim hauv 12% txog 25% ntawm cov neeg mob. Ntxiv nrog rau cov leeg tsis muaj zog, hom no kuj tseem tuaj yeem cuam tshuam rau koj tus menyuam lub hlwb. Qhov no tuaj yeem ua rau qaug dab peg, kev tsis taus ntawm kev paub, thiab teeb meem qhov muag. Lwm hom hauv pawg no suav nrog Walker-Warburg syndrome, mob leeg-qhov muag-lub hlwb, thiab Fukuyama CMD (FCMD), uas feem ntau tshwm sim hauv Nyiv.
• Collagen VI-related muscular dystrophies (COL6-RDs): Qhov no kuj tshwm sim hauv 12% txog 19% ntawm cov neeg mob. Muaj cov subtypes uas sib txawv ntawm qhov me me mus rau qhov hnyav, xws li Bethlem muscular dystrophy, intermediate COL6-RD, thiab Ullrich congenital muscular dystrophy (UCMD).
• Selenoprotein N-related myopathies (SEPN1-RM): Qhov no tshwm sim li ntawm 11% ntawm cov neeg mob. Nws yog tus yam ntxwv los ntawm kev pib tsis muaj zog ntawm cov leeg nqaij uas cuam tshuam rau cov leeg ntawm lub taub hau thiab lub cev (hu ua cov leeg nqaij axial). Qhov no tuaj yeem ua rau ua pa tsis tau sai.

Qhov teeb meem '(CMD)' no feem ntau tshwm sim li cas?

Qhov no yeej yog ib yam kab mob tsis tshua muaj. Raws li cov kws tshawb fawb, nws cuam tshuam rau ntawm 6 thiab 9 tus menyuam ntawm ib lab tus thoob ntiaj teb.

Cov tsos mob ntawm '(CMD)' yog dab tsi?

Zoo, yog li cov tsos mob ntawm tus menyuam mos uas muaj '(CMD)' yog dab tsi? Qhov tseem ceeb tshaj plaws yog cov leeg tsis muaj zog. Tej zaum koj yuav pom tej yam zoo li no thaum yug los lossis ob peb hnub tom qab yug los:

• Hypotonia: Ib txhia neeg kuj hu qhov no ua mob 'zoo li menyuam roj hmab'. Nws yuav zoo li cov ceg tawv dai cia.
• Nws tsis tshua muaj peev xwm co koj ob txhais ceg yam tsis tau npaj tseg.
• Lub suab quaj qeeb heev thiab tsis muaj zog.
• Nyuaj haus mis vim nyuaj nqus mis.
• Cov leeg nqaij thiab pob qij txha nruj, contractures.

Tom qab yug los tsis ntev, tus menyuam txoj kev loj hlob ntawm cov txuj ci kev txav mus los (tej yam uas muaj cov leeg loj) kuj yog ib qho tsos mob ntawm CMD. Piv txwv li, kev qeeb hauv kev loj hlob ntawm lub caj dab, kev qeeb hauv kev dov, thiab kev qeeb hauv kev zaum, txhos caug, sawv ntsug, thiab taug kev. Piv txwv li, yog tias koj tus menyuam tseem tab tom tawm tsam ua cov haujlwm ntawd thaum lwm tus menyuam mos uas muaj hnub nyoog zoo sib xws tab tom khiav, dhia, thiab ua si, qhov ntawd yog ib yam uas yuav tsum xav txog.

Qhov hnyav ntawm qhov mob leeg tsis muaj zog no yuav txawv ntawm ib tug menyuam mus rau ib tug menyuam. Nyob ntawm seb hom mob '(CMD' li cas, koj tus menyuam kuj tseem yuav muaj cov tsos mob ntxiv xws li:

• Teeb meem ntawm qhov muag: Piv txwv li, pom kev ze (myopia), qhov muag siab nce (glaucoma).
• Qaug zog ntawm daim tawv muag sab saud (ptosis).
• Kev ua tsis zoo ntawm lub hlwb: xws li lissencephaly (kev ua kom lub hlwb du) lossis cerebellar malformations (kev ua tsis zoo ntawm cerebellum).
• Qaug dab peg.
• Kev tsis taus ntawm kev txawj ntse.

Tej yam teeb meem uas yuav tshwm sim ntawm `(CMD)` yog dab tsi?

Tej yam teeb meem uas yuav tshwm sim ntawm `(CMD)` yog dab tsi? Qhov no kuj txawv nyob ntawm hom `(CMD)`. Tab sis feem ntau, tej yam zoo li no tuaj yeem tshwm sim:

• Teeb meem kev txav mus los: Tej tus menyuam yuav tsis taug kev tau li thiab tej zaum yuav xav tau lub rooj zaum muaj log. Lwm tus yuav xav tau cov khoom siv pab xws li cov hlau txhawb nqa pob txha lossis lub cuab yeej taug kev los pab lawv taug kev.
• Teeb meem ua pa: Ib qho teeb meem uas tshwm sim ntau ntawm CMD yog kev ua pa tsis taus mus ntev. Qhov no yog tshwm sim los ntawm kev qaug zog ntawm cov leeg nqaij uas pab ua pa. Qhov no yuav xav tau kev siv tshuab ua pa (tshuab ua pa). Qhov no tuaj yeem ua rau muaj mob xws li atelectasis thiab mob ntsws.
• Teeb meem ntawm lub plawv: Cardiomyopathy yog ib qho teeb meem uas tshwm sim ntau ntawm CMD. Qhov no tuaj yeem ua rau lub plawv tsis ua haujlwm mus ntev.
• Cov teeb meem ntawm cov leeg nqaij thiab pob txha:Kev tsis txav mus los tuaj yeem ua rau mob scoliosis, tus txha nqaj qaum nkhaus, thiab muaj feem yuav mob pob txha tawg thiab pob txha tawg. Cov qhov txhab thiab cov pob qij txha sib zog (cov leeg thiab cov leeg nqaij nyob ib puag ncig pob qij txha nruj) kuj tuaj yeem tshwm sim.
• Teeb meem ntawm lub paj hlwb: Kev nyob nrog tus kab mob ntev ntev yuav ua rau koj tus menyuam muaj feem yuav muaj kev nyuaj siab thiab/lossis kev ntxhov siab.

Vim li cas qhov "(Congenital Muscular Dystrophy)" no thiaj tshwm sim?

Qhov no yog tshwm sim los ntawm kev hloov pauv hauv cov noob caj noob ces. Cov kev hloov pauv no tshwm sim hauv cov noob caj noob ces uas yog lub luag haujlwm rau kev tsim thiab tswj cov leeg nqaij noj qab haus huv hauv peb lub cev. Vim yog cov kev hloov pauv caj noob ces no, cov hlwb uas yuav tsum tau tswj cov leeg nqaij ntawm tus menyuam tsis tuaj yeem ua lawv txoj haujlwm kom zoo. Yog li ntawd, cov leeg nqaij maj mam qaug zog zuj zus.

Muaj ntau cov noob caj noob ces uas pab txhawb rau kev ua haujlwm ntawm cov leeg nqaij, thiab muaj ntau yam kev hloov pauv ntawm cov noob caj noob ces. Yog vim li ntawd thiaj muaj ntau hom mob muscular dystrophy thiab CMD.

Feem ntau cov mob CMD yog tau txais los ntawm noob caj noob ces hauv tus qauv autosomal recessive. Hais yooj yim xwb, qhov no txhais tau tias tus menyuam tau txais kev hloov pauv caj ces uas ua rau muaj tus kab mob los ntawm ob niam txiv. Qhov no txhais tau tias ob niam txiv yuav yog cov neeg nqa cov kev hloov pauv, tab sis lawv yuav tsis qhia cov tsos mob. Txawm li cas los xij, yog tias tus menyuam tau txais kev hloov pauv los ntawm ob niam txiv, tus kab mob yuav tshwm sim.

Muaj tej zaum tus kab mob CMD no tshwm sim yam tsis tau npaj tseg, uas txhais tau tias qhov kev hloov pauv ntawm cov noob caj ces no tshwm sim yam tsis tau npaj tseg thiab tsis yog los ntawm niam txiv. Qhov no hu ua kev hloov pauv de novo.

Yuav kuaj mob CMD li cas?

Yog koj tus menyuam muaj cov tsos mob ntawm Congenital Muscular Dystrophy (qhov tsos mob tseem ceeb yog hypotonia), koj tus kws kho mob yuav ua qhov kev kuaj lub cev, kev kuaj lub paj hlwb, thiab kev kuaj cov leeg ua ntej. Koj tus menyuam kuj tseem yuav raug xa mus rau tus kws kho mob hlwb rau menyuam yaus kom kuaj ntxiv.

Yog tias koj muaj kev xav tias muaj tus mob hu ua "Congenital Muscular Dystrophy", koj tus kws kho mob yuav pom zoo kom kuaj xws li:

• Kev kuaj ntshav Creatine kinase: Ib qho enzyme hu ua creatine kinase raug tso tawm rau hauv cov ntshav thaum cov leeg nqaij raug puas tsuaj. Yog li, yog tias nws cov qib siab hauv cov ntshav, nws tuaj yeem yog ib qho cim ntawm tus kab mob tsis muaj zog ntawm cov leeg nqaij.
• Electromyography (EMG): Qhov kev kuaj no ntsuas qhov ua haujlwm hluav taws xob ntawm koj tus menyuam cov leeg thiab cov hlab ntsha.
• Kev kuaj noob caj noob ces: Muaj qee qhov kev kuaj noob caj noob ces uas tuaj yeem txheeb xyuas cov kev hloov pauv noob caj noob ces uas cuam tshuam nrog kev mob muscular dystrophy. Cov kev tshuaj ntsuam noob caj noob ces tag nrho tuaj yeem lees paub hom CMD tshwj xeeb hauv kwv yees li 60% ntawm cov neeg mob.
• Kev kuaj mob ntawm cov leeg nqaij:Tus kws kho mob yuav muab ib qho qauv me me ntawm koj tus menyuam cov leeg nqaij. Tom qab ntawd tus kws kho mob tshwj xeeb yuav saib nws hauv qab lub tshuab microscope kom paub seb puas muaj cov cim qhia tias tus menyuam cov leeg nqaij puas tawg.
• Echocardiogram thiab Electrocardiogram (EKG): Cov kev kuaj no xyuas seb qhov mob (CMD) puas tau cuam tshuam rau koj tus menyuam cov leeg plawv.
• Kev luam theej duab MRI ntawm lub hlwb: Yog tias ua tau, koj tus kws kho mob yuav pom zoo kom ua MRI ntawm lub hlwb. Ntau hom CMD muaj feem cuam tshuam nrog cov teeb meem tshwj xeeb hauv ntau qhov chaw ntawm lub hlwb.

Tej kev kuaj no yuav zoo li ntau heev rau koj. Kev saib koj tus me nyuam me ua cov kev kuaj no tuaj yeem yog ib qho kev paub mob heev. Tab sis qhov koj yuav tsum paub yog tias cov kws kho mob xav muab kev kuaj mob zoo rau koj tus menyuam thiab kev kho mob zoo tshaj plaws. Cov tsos mob ntawm CMD tuaj yeem zoo ib yam li cov kab mob ntawm lwm yam kab mob, xws li qee qhov myopathies (mob leeg), thiab lwm yam mob metabolic, xws li cov kab mob glycogen cia thiab cov kab mob mitochondrial. Yog li ntawd, nws yog ib qho tseem ceeb heev kom tau txais kev kuaj mob kom raug.

Cov kev kho mob rau '(CMD)' yog dab tsi?

Tam sim no tsis muaj tshuaj kho tau tus mob no (Congenital Muscular Dystrophy). Txawm li cas los xij, cov kws tshawb fawb tseem niaj hnub nrhiav kev kho.

Lub hom phiaj tseem ceeb ntawm kev kho mob yog los tswj cov tsos mob thiab txhim kho koj tus menyuam lub neej kom zoo. Cov kev xaiv kho mob yuav txawv nyob ntawm hom CMD. Cov no yuav suav nrog:

• Kev kho lub cev thiab kev kho mob ua haujlwm: Lub hom phiaj tseem ceeb ntawm cov kev kho mob no yog txhawb nqa thiab ncab koj tus menyuam cov leeg, uas pab tswj kev txav mus los.
• Corticosteroids: Cov tshuaj Corticosteroids, xws li prednisolone thiab deflazacort, tuaj yeem pab ncua qhov tsis muaj zog ntawm cov leeg, txhim kho kev ua haujlwm ntawm lub ntsws, qeeb qeeb scoliosis, qeeb qeeb qhov kev loj hlob ntawm cardiomyopathy, thiab ua kom lub neej ntev.
• Cov khoom siv pab txhawb kev txav mus los: Cov khoom siv xws li pas nrig, cov hlau txhawb nqa, cov khoom siv taug kev, thiab lub rooj zaum muaj log tuaj yeem pab koj tus menyuam taug kev thiab pab tiv thaiv lawv kom tsis txhob ntog.
• Kev Phais Mob: Tej zaum koj tus menyuam yuav tsum tau phais mob kom txo qhov kev nyem rau ntawm cov leeg nqaij nruj thiab kho qhov nkhaus ntawm tus txha nqaj qaum (scoliosis).
• Kev Kho Mob Plawv: Kev kho mob thaum ntxov nrog cov tshuaj xws li ACE inhibitors thiab/lossis beta-blockers tuaj yeem ua rau qeeb qeeb ntawm kev loj hlob ntawm cardiomyopathy thiab tiv thaiv kev ua tsis tau zoo ntawm lub plawv. Cov khoom siv hu ua pacemakers kuj tseem tuaj yeem pab kho cov teeb meem ntawm lub plawv dhia thiab lub plawv tsis ua haujlwm.
• Kev Kho Mob Hais Lus: Qhov no tuaj yeem pab cov menyuam yaus uas muaj teeb meem hais lus thiab/lossis nqos.
• Kev saib xyuas kev ua pa: Cov khoom siv pab hnoos thiab cov cuab yeej ua pa tuaj yeem pab ua pa. Yog tias ua pa tsis tau zoo, yuav tsum tau ntxig lub raj tracheostomy (txuas lub raj los ntawm lub qhov hauv caj dab kom pab ua pa) thiab pab ua pa.

Koj tus menyuam kuj tseem yuav koom nrog kev sim tshuaj rau CMD. Tham nrog pab pawg kws kho mob ntawm koj tus menyuam seb qhov no puas yog qhov kev xaiv rau koj.

Pab neeg kho mob kho '(CMD')

Tej zaum yuav muaj ib pab neeg kws tshwj xeeb thiab cov neeg ua haujlwm kho mob ua haujlwm los tswj koj tus menyuam tus mob (CMD). Cov no yuav suav nrog cov kws tshwj xeeb xws li:

• Cov kws kho mob menyuam yaus
• Cov kws kho mob hlwb rau menyuam yaus
• Cov Kws Kho Mob Lub Cev Rau Menyuam (Cov Kws Tshwj Xeeb Txog Kev Kho Mob Lub Cev thiab Kev Kho Kom Rov Zoo)
• Cov kws tshawb fawb txog noob caj noob ces
• Cov kws kho mob pob txha menyuam yaus
• Cov kws kho mob lub cev rau menyuam yaus
• Cov kws kho mob menyuam yaus ua haujlwm
• Cov kws kho mob hais lus rau menyuam yaus
• Cov kws kho mob plawv menyuam yaus
• Cov kws kho mob ntsws menyuam yaus
• Cov kws kho mob hlwb rau menyuam yaus
• Cov neeg ua haujlwm pabcuam zej zog

Yav tom ntej ntawm ib tug me nyuam uas muaj tus kab mob '(CMD' yuav zoo li cas?

Nws nyuaj rau cov kws tshawb fawb thiab cov kws kho mob kwv yees yav tom ntej (qhov peb hu ua qhov kev kwv yees) ntawm tus menyuam uas muaj Congenital Muscular Dystrophy. Pab neeg kho mob ntawm koj tus menyuam yuav muab cov ntaub ntawv ntau li ntau tau rau koj txog yam uas yuav tshwm sim thaum koj tus menyuam nyob hauv lawv txoj kev saib xyuas.

Feem ntau, cov kab mob muscular dystrophies uas muaj txij thaum yug los feem ntau yuav hnyav dua thiab loj hlob sai dua li cov kab mob muscular dystrophies uas pib thaum yau lossis thaum hluas.

Lub neej ntev ntawm cov menyuam yaus uas muaj tus kab mob muscular dystrophy txij thaum yug los nyob ntawm seb tus mob hnyav zuj zus sai npaum li cas thiab cov leeg twg raug cuam tshuam. Cov ua rau tuag los ntawm cov mob no yog cov teeb meem ua pa lossis lub plawv uas ua rau cov leeg tsis muaj zog.

Puas zam tau '(CMD)'?

Vim tias Congenital Muscular Dystrophy yog ib yam kab mob uas los ntawm noob caj noob ces, tsis muaj ib yam dab tsi uas koj ua tau los tiv thaiv nws raws li nws sawv cev tam sim no.

Ua ntej koj sim muaj menyuam, yog tias koj txhawj xeeb txog kev kis tus kab mob muscular dystrophy lossis lwm yam kab mob caj ces,Tham nrog koj tus kws kho mob txog kev sab laj txog noob caj noob ces. Qee zaum, kev kuaj ua ntej yug menyuam thaum ntxov ntawm cev xeeb tub tuaj yeem pab kuaj pom qhov mob.

Kuv yuav pab kuv tus menyuam li cas nrog '(CMD)'?

Yog koj tus menyuam muaj tus kab mob Congenital Muscular Dystrophy, nws yog ib qho tseem ceeb uas koj yuav tsum tawm tswv yim rau lawv kom paub tseeb tias lawv tau txais kev kho mob zoo tshaj plaws thiab ntau yam kev pab kho mob li sai tau. Los ntawm kev tawm tswv yim rau kev kho mob zoo li no, koj tuaj yeem pab lawv muaj lub neej zoo tshaj plaws.

Koj thiab koj tsev neeg kuj tseem tuaj yeem xav txog kev koom nrog ib pawg neeg txhawb nqa uas koj tuaj yeem ntsib cov neeg uas tau dhau los ntawm cov kev paub zoo sib xws. Cov chaw zoo li no tuaj yeem muab lub zog rau koj lub hlwb, cov ntaub ntawv tshiab, thiab ntau yam uas yuav kawm tau los ntawm cov kev paub ntawm lwm tus.

Thaum twg kuv tus menyuam uas muaj tus kab mob '(CMD' yuav tsum mus ntsib kws kho mob?

Yog koj tus menyuam muaj mob CMD, lawv yuav tsum ntsib nrog lawv pab neeg kho mob tsis tu ncua kom tau txais kev kho mob thiab saib xyuas lawv cov tsos mob. Tsis txhob ncua sijhawm teem caij raws li koj tus kws kho mob pom zoo.

Kuv yuav tsum nug kuv tus menyuam tus kws kho mob li cas?

Thaum koj tus menyuam raug kuaj pom tias muaj CMD, nws yuav pab tau yog nug cov lus nug no:

• Kuv tus menyuam muaj hom '(CMD)' twg?
• Koj pom zoo kom kho li cas?
• Cov npe ntawm cov kws tshwj xeeb uas kuv tus menyuam yuav tsum mus ntsib yog dab tsi?
• Koj puas sib txuas lus nrog lwm tus kws tshwj xeeb?
• Kuv ua tau dab tsi hauv tsev kom kuv tus menyuam lub neej zoo dua? (piv txwv li, kev tawm dag zog, kev noj zaub mov)
• Puas muaj kev tshawb fawb tshiab txog `(CMD)`?
• Puas muaj kev sim tshuaj tshiab rau CMD uas kuv tus menyuam yuav tsim nyog tau txais?
• Koj puas tuaj yeem pom zoo ib pab pawg txhawb nqa?

Cov yam tseem ceeb tshaj plaws uas peb xav coj los tsev los ntawm zaj dab neeg no yog

Thaum koj tus menyuam raug kuaj pom tias muaj tus kab mob Congenital Muscular Dystrophy (CMD) ces feem ntau yuav xav tias koj ntxhov siab thiab ntxhov siab. Tiam sis nco ntsoov tias pab neeg kho mob ntawm koj tus menyuam yuav muab ib txoj kev npaj kho mob zoo thiab raws li koj tus kheej xav tau. Nws yog ib qho tseem ceeb kom paub tseeb tias koj, koj tus menyuam, thiab koj tsev neeg tau txais kev txhawb nqa uas lawv xav tau, thiab kom tsom mus rau kev noj qab haus huv ntawm koj tus menyuam. Pab neeg kho mob ntawm koj tus menyuam nyob ntawm no los pab koj, koj tus menyuam, thiab koj tsev neeg txhua kauj ruam. Tsis txhob txhawj, koj tsis nyob ib leeg.

Kab mob Congenital Muscular Dystrophy, CMD, cov leeg tsis muaj zog, kab mob caj ces, cov kab mob thaum yau, hypotonia, cov leeg tsis khov, kev noj qab haus huv ntawm menyuam yaus