Yu dɔn ɛva notis se sɔm pikin dɛn ɔ yɔŋ pipul dɛn kin gɛt smɔl prɔblɛm fɔ waka, rɔn, ɔ fɔ klaym stej pas ɔda wan dɛn? Ɔ yu dɔn ɛva fil lɛk se dɛn mɔsul dɛn de wik smɔl smɔl? Sɔntɛm di rizin fɔ dis na di kɔndishɔn we wi go tɔk bɔt tide, we dɛn kɔl `(Becker Muscular Dystrophy)`. Nɔ wɔri, lɛ wi ɛksplen ɔltin insay simpul wɔd dɛn.
Wetin na `(Becker Muscular Dystrophy)`? Fɔ put am rili simpul wan...
`(Becker Muscular Dystrophy)`, we dεn kכl bak `(BMD)` fכ sכt, na wan jεnεtik kכndyushכn we nכ kin apin. Wetin kin apin na dat di mɔsul dɛn na di bɔdi kin wik smɔl smɔl ɛn dɛn nɔ kin wok fayn igen. Fɔ tɔk di kɔrɛkt tin, dis na tin we pɔsin kin gɛt frɔm in jɛnɛtiks. Dis sik kin afɛkt bɔy pikin ɛn man dɛn mɔ. di rizin fכ dis na `(X-linked inheritance)`, we min se i inhεrit frכm di mama (if na kכriכ) to di man pikin.
Dis mɔsul wik kin bigin na yu leg ɛn hip, ɛn as tɛm de go, i kin go na yu ɔp an, we min se yu ɔp bɔdi.
pan di kayn mכsul dεm we dεn no naw, BMD kin bi di tכd mכst kכmכn tכp pan big pipul dεm, afta myotonic dystrophy εn facioscapulohumeral dystrophy.
Wetin na di difrɛns bitwin `(Becker Muscular Dystrophy)` ɛn `(Duchenne Muscular Dystrophy)`?
Yu kin dɔn yɛri bɔt wan sik we dɛn kɔl `(Duchenne Muscular Dystrophy)` ɔ `(DMD)`. כl tu di `(BMD)` εn `(DMD)` de kכz fכ di mכtεshכn dεm na di sem jin, dat na di jin we de kכd fכ wan protin we dεn kכl `(dystrophin).` Dis protin we dεn kכl `(dystrophin)` rili imכtant fכ di hεlth fכ wi mכsul dεm.
Bɔt na dis difrɛns:
- Pɔsin we gɛt DMD nɔ gɛt ɔlmost distrofin protin na in mɔsul tisu.
- Pɔsin we gɛt BMD gɛt sɔm distrofin na in mɔsul, bɔt i nɔ go du fɔ am.
fכ dat, di kכndyushכn `(BMD)` de sכmtεm sכmtεm sכmtεm pas `(DMD)`, εn di simptom dεm de apia εn go bifo bכku slo pas `(DMD)`. Bɔt, di sayn dɛm kin bi di sem fɔ dɛn ɔl tu.
Udat dɛn kin afɛkt mɔ pan dis sik (Becker Muscular Dystrophy)?
As wi bin dɔn tɔk, BMD kin afɛkt man dɛn mɔ. Bɔt uman dɛn we gɛt BMD (i.e., di wan dɛn we gɛt di jin we de mek di sik bɔt nɔ de sho di sayn dɛm) kin gɛt sɔm sayn dɛm. Bɔt, bɔrku tɛm, dɛn nɔr kin tranga lɛk dis, ɛn dɛn kin rili saful.
Bɔrku tɛm, de sik kin bigin bitwin 5 ɛn 15 ia. Bɔt sɔm pipul dɛn kin gɛt dis sik leta.
Aw kɔmɔn tin na `(Becker Muscular Dystrophy)`?
BMD na rili wan sik we nɔ kin apin so ɔltɛm.Dis sik kin afɛkt bitwin 3 ɛn 6 pan ɛvri 100,000 pikin dɛn we dɛn bɔn. Ɛn lɛk aw wi bin dɔn tɔk, i kin afɛkt bɔy pikin dɛn pas ɔl.
Wetin na di sayn dɛm fɔ `(Becker Muscular Dystrophy)`?
Di sayn dɛm fɔ BMD kin bigin bitwin 5 ɛn 15 ia, bɔt i kin apin leta. Wetin kin apin na dat, di mɔsul dɛn we wik kin bɔku smɔl smɔl as tɛm de go. So, di sayn dɛm wae kin kam pan pɔrsin na:
- I nɔ izi fɔ klaym stej.
- I nɔ kin izi fɔ waka, ɛn di prɔblɛm kin go ɔp as tɛm de go.
- I nɔ kin ebul fɔ du ɛksɛsayz (fɔ fil taya ivin we yu tray smɔl).
- di mכsul dεm de pen εn/כ di mכsul dεm de twitch (lεk kramp).
- Fɔdɔm ɔltɛm.
- Toe waka we yu de waka.
- Fɔ fil taya ɔltɛm (Fatigue).
Imajin, if yu pikin nɔ de rɔn ɛn ple lɛk aw i bin de du, ɛn se "Mama, a taya" ivin afta i dɔn waka fɔ smɔl tɛm, ɔ if i taya kwik pas ɔda pikin dɛn we i de ple na skul, i fayn fɔ mek yu wɔri smɔl bɔt am.
Apat frɔm dis, BMD kin mek ɔda sayn dɛn:
- Cardiomyopathy : Dis na sɔntin we yu fɔ tek tɛm wit.
- I nɔ kin izi fɔ yu fɔ blo.
- Sɔm difrɛns pan lanin (lɛk fɔ tek lɔng tɛm fɔ ɔndastand sɔm tin dɛn pas ɔda wan dɛn).
- Lɔs di bɔdi balans ɛn kɔdineshɔn.
uman dεm we de kכriכnt fכ BMD kin כnli gεt kardiomyopathy כ rili mild mכsul wikεshכn. Dɛn se lɛk 22% pan di wan dɛn we gɛt di sik go gɛt di sik, bɔt dis kin difrɛn bad bad wan frɔm wan pɔsin to ɔda pɔsin.
Wetin kin mek yu gɛt `(Becker Muscular Dystrophy)`?
BMD na wan jenɛtik kɔndishɔn we dɛn kin gɛt frɔm dɛn mama ɛn papa. Na wan chenj we de apin na di jin we de kɔd fɔ wan prɔtin we dɛn kɔl distrofin. Distrofin impɔtant fɔ mek di mɔsul sɛl dɛn na wi bɔdi strɔng ɛn stebul.
so, we chenj de na dis `(dystrophin)` jin, di `(dystrophin)` protin nכ de prodyuz, כ di amoun we dεn prodyuz de rεdכks bכku. Dis kin mek as tɛm de go, di mɔsul dɛn kin wik ɛn dɛn kin bigin fɔ pwɛl.
Aw dɛn kin gɛt di sik we dɛn kɔl Becker Muscular Dystrophy? Dis na sɔntin we yu nid fɔ ɔndastand smɔl!
`(BMD)` na inhεrit in wan we we dεn kכl `(X-linked rεsεsiv inhεritεns)`. Naw lɛ wi ɔndastand dis simpul wan.
- X-linked min se di jin we de rispansabl fכ BMD de na di X kromozom. As yu no, wi gɛt tu sɛks kromozom dɛn, X ɛn Y.
- rεsεsiv min se fכ mek dis sik apin, di tu kכpi dεm fכ di rilevεnt jin (wi gεt tu kכpi fכ kכlכsכl εvri jin) fכ gεt wan pathogenic vεryכnt כ mכtεshכn we de mek di sik.
Bɔt na di tin we impɔtant pas ɔl:
- Man dεm (XY) gεt wan X kromozom. so, if difεkt de na di rilevεnt jin pan da singl X kromozom, i inof fכ mek `(BMD)`.
- Uman dɛn gɛt tu X kromozom dɛn (XX) . So fכ wan X-linked rεsεsiv sik apin, כltεm כl tu di kכpi dεm fכ di jin fכ defεkt. כltu, dεn kכl uman dεm we gεt di jin we nכ de wok fayn pan wan X kromozom nכmכ "kכriכs." Bɔrku tɛm, dɛn kayn pipul ya nɔr kin sho sɔm kayn sik. Bɔt, na smɔl tɛm nɔmɔ, sɔm kayn sik dɛn kin apin we nɔ kin apin ɔ we nɔ kin bɔku.
Naw luk aw dis de go dɔŋ insay jɛnɛreshɔn dɛn:
- fכ mama we na kכriכ (gεt jin we nכ de wok fayn na wan X kromozom) :
- if dεn bכn pikin, 50% chans de fכ di pikin go gεt di kכndishכn `(BMD)`.
- If yu gɛt gyal pikin, 50% chans de fɔ mek i bi pɔsin we de kɛr am.
- Fɔ papa we gɛt (BMD) kɔndishɔn :
- I nɔ kin ebul fɔ pas dis sik to in bɔy pikin dɛn (bikɔs di papa kin pas di Y kromozom to di pikin).
- Bɔt ɔl in gyal pikin dɛn go bi kariɔ (bikɔs di papa de gi di gyal pikin di X kromozom we nɔ fayn).
Yu ɔndastand? Dis kin tan lɛk se i kɔmplikt smɔl, bɔt fɔ tɔk am simpul wan, bɔy pikin kin gɛt dis frɔm in mama, if di mama na pɔsin we de kɛr am.
Aw dɛn kin no bɔt `(Becker Muscular Dystrophy)`?
If dɛn tink se yu ɔ yu pikin gɛt BMD, i go mɔs bi se yu dɔktɔ go du yu bɔdi ɛgzam, ɛgzam fɔ yu nyurolɔjik, ɛn tɛst yu mɔsul. Dɛn go aks yu bak bɔt yu sik ɛn yu mɛdikal histri, inklud if ɛnibɔdi na yu famili dɔn gɛt dis kayn sik.
We dɛn de du dɛn tɛst ya, di dɔktɔ kin si tin dɛn lɛk:
- Di mɔsul dɛn na di leg ɛn di hip dɛn dɔn atrofi.
- pan tap we di mכsul dεm na di groin εria kin sho big we yu luk am fכs (dεn kכl dis ``pseudohypertrophy'' ), dεn kin rili wik. I tan lɛk se dɛn jɔs blo frɔm insay to do.
- wan kכva na di spayna (scoliosis) εn sכm difכmiti dεm na di chεst.
- di mכsul dεm we nכ de nכmal, fכ egzampl, di mכsul dεm, di tεndon dεm, εn di skin na di il εn di leg dεm de tayt fכ tεm (kכntrakt) .
Us tɛst dɛn kin yuz fɔ no if pɔsin gɛt `(Becker Muscular Dystrophy)`?
If yu dɔktɔ tink se yu ɔ yu pikin gɛt BMD, dɛn kin tɛl yu fɔ du dɛn tɛst ya:
- Kriatin kinaz blɔd tɛst: We di mɔsul dɛn pwɛl, dɛn kin pul wan ɛnzaym we dɛn kɔl kriaytin kinaz insay di blɔd. Pɔsin we gɛt BMD kin gɛt di lɛvɛl fɔ dis kriaytin kinaz fayv tɛm ɔ pas di nɔmal.
- Jεnεtik bכdi tεst: Dis jεnεtik tεst, we de chεk fכ mכtεshכn na di Dystrophin jin, kin definitivli fכ no BMD.
If dɛn kɔnfyus se yu ɔ yu pikin gɛt BMD, yu dɔktɔ kin tɛl yu bak fɔ du Ilɛktrokardiogram (EKG) ɔ Echocardiogram fɔ chɛk fɔ si if yu gɛt prɔblɛm wit di at mɔsul dɛn we kin kam wit BMD.
Aw dɛn kin trit Becker Muscular Dystrophy?
I sɔri fɔ no se naw, no mɛrɛsin nɔ de fɔ BMD. So, di men gol fɔ tritmɛnt na fɔ kɔntrol di sayn dɛm ɛn kip di bɛst kwaliti fɔ liv.
Tu men tritmɛnt dɛn de fɔ BMD:
1. Kɔtikosterɔyd: Fɔ ɛgzampul, drɔgs lɛk prednisolone. dis dεm de εp fכ mek di lכng wok fayn, slo di divεlכpmεnt fכ di sכlכsis, slo di divεlכpmεnt fכ di kכdiכmayopathy, εn i de mek di layf εkspεktεshכn bכku.
2. Rihabiliteshɔn: Dɛn tin ya kin ɛp di pɔsin we sik fɔ mek i ebul fɔ wok fɔ lɔng tɛm ɛn fɔ mek in layf bɛtɛ.
- Fyzikal tritmɛnt kin ɛp fɔ mek di mɔsul dɛn strɔng.
- Tɛrapi fɔ tɔk, ɔkupeshɔn tɛrapi, ɛn ɛnjɔymɛnt tɛrapi kin ɛp fɔ du tin dɛn we pɔsin kin du ɛvride.
Apat frɔm dis, ɔda tritmɛnt dɛn de we kin ɛp fɔ gɛt BMD:
- Mobiliti aid fכ tin dεm lεk fכ waka - fכ egzampl. ken, wilchia, bres.
- Mεdikeshכn dεm fכ `(Cardiomyopathy)` - fכ egzampl. `(ACE inhibitor)` ɛn `(beta-blɔk)` .
- Ɔpreshɔn fɔ ɛp wit skɔliosis ɛn kɔntrakt.
- If i nɔ izi fɔ brith bad bad wan (we nɔ de blo fayn) , i kin nid fɔ du tracheostomy (we dɛn kin du ɔpreshɔn fɔ opin di trachea) ɛn artificial respiration.
Laki, sɔm nyu mɛrɛsin dɛn we kin trit BMD de na klinik trial naw, ɛn wi kin ɛkspɛkt gud rizulyt frɔm dɛn tumara bambay.
Yu tink se dɛn kin mek dɛn nɔ gɛt Becker Muscular Dystrophy?
Bikɔs BMD na wan sik we pɔsin kin gɛt frɔm in mama ɛn papa, natin nɔ de we wi go du fɔ mek i nɔ apin.
Bɔt if yu gɛt BMD, ɔ if yu de wɔri se yu go gɛt BMD ɔ ɔda kayn sik we yu gɛt, tɔk to yu dɔktɔ bɔt am bifo yu bɔn pikin.I rili fayn fɔ go fɛn advays bɔt yu jɛnɛtiks.
Wetin na di prɔgnosis fɔ Becker Muscular Dystrophy?
De luk fɔ pɔrsin wae gɛt BMD kin difrɛn frɔm pɔrsin to ɔda pɔrsin. Dis na we di disabled de go bifo smɔl smɔl. Bɔt aw di disabled kin tranga kin difrɛn. Sɔm pipul dɛn kin nid wilchia, ɔda wan dɛn kin jɔs nid fɔ yuz tin dɛn we dɛn kin yuz fɔ waka (ken, krach).
Bɔt if pɔrsin wae gɛt ``(BMD)`` gɛt at sik ɔr nɔr kin ebul fɔ blo fayn, in layf kin shɔt.
Di kɔmplikeshɔn dɛn we kin apin bikɔs ɔf BMD na:
- At prɔblɛm, mɔ `(Cardiomyopathy)`.
- I nɔ kin izi fɔ blo we di mɔsul dɛn we de blo wik.
- Nyumonia ɔ ɔda infekshɔn dɛn we pɔsin kin gɛt we i de blo.
- As tɛm de go, di disabled kin bɔku ɛn di pɔsin nɔ kin ebul fɔ du in wok fɔ insɛf.
- Bɔn dɛn we kin brok.
Wetin na di layf we pɔsin we gɛt `(Becker Muscular Dystrophy)` kin liv?
di layf we pɔsin we gɛt ``BMD'' kin liv kin shɔt smɔl. Dat min se, bitwin 40 ɛn 50 ia. ``Dilated cardiomyopathy'' (wan kכndyushכn we di at mכsul de wik εn big) na di big tin we de mek i day.
Aw a go tek kia ɔf pɔsin we gɛt `(BMD)`? Ɔ aw a kin kia fɔ misɛf?
If yu gɛt BMD, i impɔtant fɔ gɛt gud mɛrɛsin fɔ mek yu nɔ gɛt ɔ trit di prɔblɛm dɛn we kin kam wit BMD, lɛk at sik ɛn prɔblɛm dɛn we yu kin gɛt we yu de blo. I kin fayn bak fɔ jɔyn sɔpɔt grup usay yu kin sheb yu ɛkspiriɛns ɛn mit ɔda pipul dɛn we ɔndastand yu.
If yu de kia fɔ pɔsin we gɛt BMD, i impɔtant fɔ mek shɔ se i de gɛt di bɛst mɛrɛsin, di tin dɛn we dɛn nid fɔ ɛp fɔ waka, ɛn di tritmɛnt dɛn we de ɛp am fɔ wok fɔ dɛnsɛf. Yu na di wan we fɔ bi dɛn advatayz.
Ustɛm a fɔ si dɔktɔ bɔt `(Becker Muscular Dystrophy)`?
If dɛn dɔn no se yu (ɔ yu pikin) gɛt Becker Muscular Dystrophy, i rili impɔtant fɔ go to yu mɛdikal tim ɔltɛm fɔ gɛt tritmɛnt ɛn fɔ wach yu sik dɛn.
Wi no se wan diagnosis lɛk Becker Muscular Dystrophy nɔr izi fɔ ɔndastand ɛn dil wit. I kin mek yu at pwɛl. Yu mɛdikal tim go gi yu wan strɔng manejmɛnt plan we dɛn mek fɔ yu sik dɛn. I impɔtant fɔ mek shɔ se yu de gɛt di sɔpɔt we yu nid ɛn de kia fɔ yu wɛlbɔdi.
Fɔ tɔk smɔl, tin dɛn we wi nid fɔ mɛmba (Take-Home Message) .
Okay, so na sɔm simpul tin fɔ mɛmba bɔt `(Becker Muscular Dystrophy)` ɔ `(BMD)` we wi bin tɔk bɔt:
- ``(BMD)`` na jεnεtik sik we de pas dכn tru jεnereshכn. Insay dis, di mɔsul dɛn kin wik smɔl smɔl.
- DisI kin afɛkt man dɛn pas ɔlman.
- di kכz na difεkt na di jin we de mek di protin ``dystrophin''.
- Di sayn dɛm kin bigin we dɛn smɔl (bitwin 5 ɛn 15 ia). Di sayn dɛm na wae i nɔr kin izi fɔ waka, i kin taya, ɛn i kin fɔdɔm ɔltɛm.
- Cardiomyopathy (at mכsul sik) εn respiratory distress kin bi big kכmplikεshכn fכ dis kכndyushכn.
- Naw, no mɛrɛsin nɔ de fɔ dis sik. Bɔt difrɛn tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ mek di kwaliti fɔ layf bɛtɛ (e.g., kɔtikosterɔyd, fizik tɛrapi).
- If sɔmbɔdi na di famili gɛt dis sik, i go fayn fɔ mek yu aks fɔ advays bɔt yu jɛnɛtiks bifo yu bɔn pikin.
- I rili impɔtant bak fɔ go to dɔktɔ ɔltɛm fɔ advays ɛn tritmɛnt, ɛn fɔ kɔntinyu fɔ gɛt trɛnk na yu maynd.
Nɔ fɔgɛt, nɔto yu wangren de. We yu de go tru dis, aks fɔ ɛp frɔm dɔktɔ, fambul, padi, ɛn sɔpɔt grup. I go bi big tin we go mek yu gɛt trɛnk!
` Becker mכskul distrofi, BMD, mכsul wik, jεnεtik sik dεm, distrofin, X-linked, jin mכtεshכn, pikin hεlth, at sik, fכshal tεrapi
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