I tan lɛk se yu pikin in mɔsul dɛn de wik? Lan bɔt di sik we dɛn kɔl Duchenne Muscular Dystrophy (DMD) .

Yu go dɔn notis se yu smɔl pikin dɔn bigin fɔ gɛt prɔblɛm fɔ waka ɛn klaym stej frɔm we dɛn bin de rɔn ɛn ple. Ɔ yu kin fil lɛk se dɛn de fɔdɔm ɔltɛm ɛn fil bad bad wan? Dɛn tin ya kin tan lɛk smɔl tin wae wi nɔr kin pe atɛnshɔn to, bɔt dɛn kin bi sayn fɔ sɔm kayn sik kwik kwik wan. Na dat wi go tɔk bɔt tide, sik we kin mek di mɔsul dɛn wik smɔl smɔl, mɔ pan bɔy pikin dɛn.

Wetin na Duchenne Muscular Dystrophy (DMD) we gɛt di sik?

Fɔ tɔk am simpul wan, Duchenne muscular dystrophy, ɔ DMD fɔ shɔt, na sik we di skel mɔsul dɛn na wi bɔdi, di mɔsul dɛn we de ɛp fɔ muv wi an ɛn fut dɛn, kin wik smɔl smɔl ɛn nɔ kin wok as tɛm de go. Dis na di kayn mכsul dεm we de kכmכn pas כl εn we kin rili bad .

Tink bɔt dis we: wi mɔsul dɛn tan lɛk ɛlastik rɔba band. Insay dis sik, di trɛnk we dɛn ɛlastik mɔsul dɛn de gɛt kin go dɔŋ ɛn dɛn nɔ kin wok fayn igen. As tɛm de go, dis sik kin jɔs wɔs, nɔto fɔ bɛtɛ.

Bɔku tɛm, DMD na jɛnɛreshɔn, we min se i kin pas frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn . sכm spεshal wan, i de transmit as X-linked rεsεsiv trayt . Dis min se if di mama na pɔsin we gɛt di sik, in pikin kin gɛt am frɔm am. Bɔt insay sɔm kes dɛm, lɛk 30% pan di kes dɛm, di kɔndishɔn kin apin bak bikɔs ɔf wan nyu jɛnɛtik muteshon , ivin if nɔbɔdi na di famili nɔr dɔn gɛt dis sik bifo. Dis min se sɔmtɛm i kin apin bak randomly.

Udat dɛn kin afɛkt mɔ pan dis DMD kɔndishɔn?

Duchenne muscular dystrophy kin mɔs afɛkt bɔy pikin dɛn . Bɔt sɔm tɛm, gyal pikin dɛn we gɛt di jin we de mek pɔsin gɛt di sik kin sho smɔl smɔl sayn dɛn. Bɔt, dis nɔ kin rili kɔmɔn.

di sayn dεm we de sho se di mכsul dεm wik kin bigin bitwin 2 εn 4. Bɔt sɔm pikin dεm nɔ kin bigin fɔ sho dεn sik ya te dεn ol lεk 6 ia. So, if yu gɛt ɛni dawt, i go fayn fɔ mek yu go to dɔktɔ.

Aw kɔmɔn tin fɔ DMD?

Pan ɔl we dis na siriɔs sik, i nɔ kin apin sote go lɛk aw pɔsin kin tink. Statistikin sho se lɛk wan pan ɛvri 3,600 pikin dɛn we dɛn bɔn layf layf wan ɔlsay na di wɔl gɛt DMD. DMD na wan pan di kɔmɔn pan di siriɔs, inherited myopathies , ɔ sik dɛm na di skel mɔsul dɛm.

Yu tink se DMD na sik we de kil pɔsin?

Yɛs, i sɔri fɔ no se DMD kin kil pɔsin.Wan ɔda sik. Bɔrku pipul dɛm wae gɛt dis sik kin day bikɔs ɔf kɔmplikɛshɔn na dɛn lɔng ɛn at. Bɔt nɔr wɔri, wit di tritmɛnt dɛm wae de naw, we de fɔ mek yu liv lɔng ɛn fɔ mek yu gɛt sɔm kayn gud kwaliti layf.

Wetin na di sayn dɛm fɔ DMD?

As wi bin dɔn tɔk, DMD simptom kin bigin bitwin 2 ɛn 4. Bɔt sɔm tɛm dɛn kin bigin as ali as pikin, ɔ ivin apin leta we dɛn smɔl.

As DMD de mek di mɔsul dɛn trɛnk go dɔŋ as tɛm de go, di tin dɛn we kin apin mɔ na:

• di mכsul dεm we wik εn west (muscle atrophy) we de go כp sכmtεm, i de stat na di leg dεm εn di hip dεm. Dis sik kin afɛkt di an, di nɛk, ɛn ɔda pat dɛn na di bɔdi smɔl.
• di kalf mכsul haypatrכfi (we min se di kכlf mכsul de bi big). dis kin apin we di mכsul fayb dεm de riples wit fεt tisu εn kכnektiv tisu.
• I nɔ izi fɔ klaym stej.
• I nɔ izi fɔ waka as tɛm de go.
• Fɔdɔm ɔltɛm.
• Wan waddling gait we yu de waka.
• Toe waka we yu de waka.
• Fɔ fil taya kwik kwik wan (taya).

Imajin, if yu bɔy pikin grap frɔm ple na grɔn, prɛs in an dɛn na grɔn, dɔn i put in an dɛn na in ni, ɛn es in bɔdi smɔl smɔl wit big prɔblɛm, dat kin bi bak wan sayn fɔ dis sik (dɛn kin kɔl dis bak Gowers in sayn).

Apat frɔm dis, DMD kin mek ɔda sayn dɛn:

• Di sik we de na di at mɔsul (Cardiomyopathy).
• I nɔ izi fɔ blo ɛn i nɔ kin blo fayn.
• Kɔgnitiv impairment ɛn difrɛns pan lanin.
• Dilɛys fɔ tɔk ɛn langwej divɛlɔpmɛnt.
• Divɛlɔpmɛnt dilɛys.
• Skɔliosis we de mek pɔsin gɛt sik.
• Short ayt.

bitwin 2.5% ɛn 20% pan di gyal pikin dɛm we gɛt di jin we de mek DMD (carriers) kin gɛt smɔl smɔl sayn dɛm, bɔt dɛn nɔ kin rili bad.

Wetin mek sɔntin lɛk dis DMD kin apin?

di men tin we de mek DMD na di muteshon na di jin we de kכd fכ prodyuz distrofin, we na wan protin we implεnt fכ kip wi mכsul dεm hεlth. dis protin, distrofin, imכtant fכ di distrofin-glycoprotein kכmpleks (DGC), we de akt lεk strכkchכral yunit fכ di mכsul dεm.

insay DMD, di distrofin εn DGC protin dεm de lכs, we kin mek di mכsul sεl dεm day (nεkrכsis).Pɔsin we gɛt DMD gɛt smɔl pas 5% pan di distrofin we i nid fɔ gɛt wɛlbɔdi mɔsul dɛn.

As pipul dεm wae gεt DMD de ol, dεn mכsul dεm nכ de ebul fכ riples dεn day sεl dεm ya wit nyu wan dεm. insted , di kכnektiv tisu εn adipos tisu de tek di ples fכ di mכsul fayb dεm.

As wi bin se, DMD na X-linked rεsεsiv kכndishכn. Bɔt insay lɛk 30% pan di kes dɛm, i kin apin bak randomly, witout ɛni famili histri.

"X-linked" min se di jin we de rispansabl fכ DMD de na di X kromozom . As yu no, man gεt wan X kromozom εn wan Y kromozom, εn uman gεt tu X kromozom.

"Rεsεsiv" min se pכsin go כnli gεt di sik if i gεt tu kכpi fכ di jin we de mek di sik. Bɔt man dɛn gɛt wan X kromozom. So if di jin mכtεshכn we de mek DMD de pan da X kromozom de, dεn go gεt DMD. fכ mek gyal pikin gεt DMD, i fכ gεt dis jin mכtεshכn pan in tu X kromozom dεm. Dat na tin we nɔ kin apin so ɔltɛm. Bɔt if i gɛt di muteshon pan wan X kromozom nɔmɔ, i go bi pɔsin we de kɛr di sik.

Aw dɛn kin no se pɔsin gɛt DMD?

If yu pikin sho sayn dɛn fɔ DMD, di dɔktɔ go fɔs du in bɔdi ɛgzam , nyurolɔjik ɛgzam, ɛn mɔsul ɛgzam . Dɛn go aks bak bɔt yu pikin in sik ɛn in mɛdikal istri.

If di dɔktɔ tink se di pikin gɛt DMD, dɛn kin du dɛn tɛst ya:

• Kriatin kinaz (CK) blɔd tɛst: We di mɔsul dɛn pwɛl, wan ɛnzaym we dɛn kɔl kriaytin kinaz kin gɛda na di blɔd. So, if di CK lεvεl dεn εlevεt, i kin bi sayn fכ DMD. dis lεvεl kin kכmכt arawnd di ej 2, εn i kin bi 10-20 tεm pas nכmal.
• jεnεtik bכdi tεst: dεn kin kכnfכm DMD bay jεnεtik tεst we sho se di distrofin jin dכn lכs kכmplit כ pat pan am.
• Mɔsul bayɔpsi: Di ​​dɔktɔ kin tek smɔl smɔl mɔsul frɔm yu pikin in shɔl ɔ in kaw pikin. Wan spɛshal pɔsin go luk di sampul ɔnda maykroskɔp fɔ si if ɛni sayn de fɔ DMD.
• Ilɛktrokadiogram (EKG): Bikɔs DMD kin afɛkt di at bɔku tɛm, di dɔktɔ go du EKG fɔ chɛk fɔ ɛni patikyula sayn fɔ DMD ɛn fɔ no if di at gɛt wɛlbɔdi.

Wetin na di tritmɛnt dɛm fɔ dis?

Bɔt i sɔri fɔ no se naw, no mɛrɛsin nɔ de fɔ DMD. So, di men gol fɔ tritmɛnt na fɔ kɔntrol di sayn dɛm ɛn fɔ mek di pikin gɛt kwaliti layf di bɛst we aw i pɔsibul.

Dis na di tritmɛnt dɛn we de sɔpɔt DMD:

• Kɔtikosterɔyd: Stɛroyd mɛrɛsin dɛn lɛk prednisolone ɛn deflazacort , kin ɛp fɔ mek di mɔsul dɛn lɔs slo, i kin mek di lɔng dɛn wok fayn, i kin mek pɔsin gɛt skɔliosis sloslo, i kin mek di at mɔsul dɛn wik (cardiomyopathy), ɛn i kin mek i liv lɔng.
• Kadiomyopathy mɛrɛsin: If yu bigin fɔ tek mɛrɛsin kwik kwik wan lɛk ACE inhibitors ɛn/ɔ beta-blockers, i kin kɔntrol di at mɔsul dɛn we wik ɛn mek yu nɔ gɛt at atak.
• Fizik tritmɛnt: Di men gol fɔ fyzikal tritmɛnt na fɔ mek dɛn nɔ gɛt kɔntrakt , we na fɔ tayt mɔsul, tɛndon, ɛn skin fɔ ɔltɛm. Bɔku tɛm, dis kin gɛt fɔ du wit patikyula ɛksesaiz dɛn fɔ strɛch.
• Ɔpreshɔn fɔ stɛnɔsis ɛn di mɔsul dɛn we tayt: If i siriɔs, i kin nid fɔ du ɔpreshɔn fɔ mek di mɔsul dɛn tayt. כpεrayshכn fכ kכrekt spεnal stεnosis kin mek di lכng fכ wok εn brith fayn.
• Ɛksesaiz: Bɔku tɛm, yu pikin in dɔktɔ go tɛl yu fɔ du ɛksɛsayz saful wan fɔ mek yu nɔ yuz am mɔ mɔsul dɛn. Dɛn kin du dis togɛda wit pul ɛksɛsayz ɛn ɛnjɔymɛnt.

Ɔda tritmɛnt dɛn we de sɔpɔt am na:

• Di tin dɛn we pɔsin kin yuz fɔ muv: bres, ken, ɛn wilchia.
• Tracheostomy ɛn asist ventilation fɔ prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de blo.

Ɔva di pas sɔm dikɛd ia, di layf we pipul dɛn we gɛt DMD de liv dɔn go ɔp bad bad wan wit di advans we dɛn dɔn mek pan sɔpɔtiv kia savis.

Bɔku nyu mɛrɛsin dɛn de naw we dɛn de du klinik tɛst we kin gi op fɔ trit DMD. sεvεra nyu tritmεnt dεm, lεk "exon skipping" (wan mεtכd we de "splais" wan pat pan di dystrophin jin we nכ de כ we dεn mכt), dεn nכ tu te yet we di FDA (Food and Drug Administration) dɔn gri fɔ . Bɔt dɛn kin yuz dɛn tritmɛnt ya pan smɔl pipul dɛn nɔmɔ we gɛt rili spɛshal jɛnɛtik muteshon. pan ɔl we dɛn tritmɛnt ya de mek di distrofin protin we de na di mɔsul dɛn go ɔp, dɛn nɔ dɔn sho yet se dɛn dɔn rili impɔtant pan di trɛnk ɛn di wok we di bɔdi de du.

Yu tink se dɛn kin ebul fɔ avɔyd dis DMD kɔndishɔn?

Bikɔs DMD na wan sik we pɔsin kin gɛt frɔm in mama ɛn papa, natin nɔ de we yu go du fɔ mek i nɔ apin . Na lɛk wan pat pan tri pan di kes dɛm kin apin randomly, wit nɔ famili histri.

If yu de wɔri bɔt di risk fɔ pas DMD ɔ ɔda jenɛtik kɔndishɔn to yu pikin dɛn bifo yu tray fɔ bɔn pikin, tink bɔt aw fɔ advays yu jɛnɛtiks.Tɔk to yu dɔktɔ bɔt dis. sכm tεm dεm, we dεn tεst bifo dεn bכn ali we uman bεlε kin ebul fכ no DMD.

Us kayn tin kin apin tumara bambay (Prognosis)?

Bɔku tɛm pipul dɛn we gɛt DMD nɔ kin gɛt bɛtɛ prɔgnosis . Dis kin mek dɛn gɛt disabled smɔl smɔl, ɛn bɔku pikin dɛn we gɛt DMD kin go na wilchia we dɛn ol 12. DMD kin mek dɛn day kwik bak.

Wetin na di layf we pɔsin we gɛt DMD kin liv?

Bɔrku tɛm, pipul dɛm wae gɛt DMD kin day pan dis sik wae dɛn ol 25. Bɔt wit di advans pan sɔpɔtiv kia, bɔrku pipul dɛm naw de liv lɔng.

Bɔku tɛm, day kin bi bikɔs ɔf di prɔblɛm dɛn we i kin gɛt we i de blo (brith) ɔ di at. Nyumonia, we yu aspir fɔ ɔda tin lɛk it, ɔ we yu nɔ ebul fɔ blo, dat kin mek yu day bak.

Aw yu kin kia fɔ pɔsin we gɛt DMD?

If yu de kia fɔ pɔrsin wae gɛt DMD, i impɔtant fɔ advatayz fɔ am, ɛp am fɔ gɛt di bɛst mɛrɛsin ɛn tritmɛnt we pɔsibul , so dat i go gɛt di bɛst kwaliti fɔ liv.

I kin fayn bak fɔ mek yu ɛn yu famili jɔyn sɔpɔt grup fɔ mit ɔda pipul dɛn we dɔn gɛt di sem kayn ɛkspiriɛns. I kin rili ɛnkɔrej wi bak fɔ no se nɔto yu wangren de.

Ustɛm mi pikin fɔ go to dɔktɔ bɔt DMD?

If dɛn dɔn no se yu pikin gɛt DMD, dɛn go nid fɔ go to dɛn mɛdikal tim ɔltɛm fɔ gɛt tritmɛnt ɛn fɔ wach di sayn dɛm.

Fɔ ɔndastand yu pikin in DMD kɔndishɔn kin tranga fɔ yu. Bɔt yu mɛdikal tim go gi yu wan strɔkchɔral manejmɛnt plan we dɛn mek fɔ yu pikin in sik dɛn. I impɔtant fɔ de wach yu pikin in wɛlbɔdi ɛn mek shɔ se dɛn de gɛt di sɔpɔt we dɛn nid. Mɛmba se yu mɛdikal tim de ɔltɛm fɔ ɛp yu, yu famili, ɛn yu pikin.

Fɔ dɔn, mɛmba dis (Take-Home Message) .

Duchenne muscular dystrophy (DMD) na wan siriɔs sik we de apin fɔ ɔl in layf. Bɔt fɔ no, fɔ no di pikin kwik kwik wan, ɛn fɔ gi am di rayt advays ɛn fɔ kia fɔ di pikin fɔ sɔpɔt am, dat kin ɛp fɔ mek di pikin in kwaliti layf ay as i pɔsibul.

Mɛmba se: Nɔto yu wan de. Dɔktɔ dɛn, dɔktɔ dɛn we de mɛn yu pikin, advaysa dɛn, ɛn ɔda sɔpɔt grup dɛn de fɔ ɛp yu ɛn yu pikin. Risach bɔt nyu tritmɛnt dɛn de apin ɔltɛm. So nɔ giv ɔp fɔ gɛt op. Di tin we impɔtant pas ɔl na fɔ gi yu pikin lɔv, kia fɔ am, ɛn ɛnkɔrej am.

If yu gɛt ɛnitin fɔ wɔri bɔt yu pikin in mɔsul ɔ i nɔ ebul fɔ waka, nɔ dismis am as sɔntin we smɔl.Si dɔktɔ we sabi du di wok wantɛm wantɛm fɔ advays. Di kwik we dɛn no di sik, na di mɔ i go izi fɔ mɛn am.

` Duchenne muscular dystrophy, DMD, muscular wikness, jεnεtik sik dεm, sik dεm fכ bכy pikin dεm, dystrophin, pikin dεm hεlth