Yu ɔ sɔmbɔdi na yu famili, mɔ di pikin, dɔn notis se yu bɔdi de lɔs trɛnk smɔl smɔl? Sɔntɛm i dɔn bi mɔ at fɔ waka, rɔn, ɔ klaym stej. Yu dɔn ɛva gɛt prɔblɛm fɔ grap we yu sidɔm, yuz yu an dɛn fɔ pres dɔŋ na grɔn ɛn yu ni dɛn fɔ grap? If yu gɛt dɛn kayn sik ya, wi go tɔk bɔt wan tin we kin mek yu gɛt dis sik tide. Dat na mɔskul distrofi. Nɔ fred we yu yɛri di nem. Lɛ wi tɔk bɔt dis simpul wan, di we we ɔlman go ɔndastand.
Wetin na Muscular Dystrophy?
Fɔ tɔk am simpul wan, mɔskul distrofi na grup we gɛt pas 30 jɛnɛtik tin dɛn we kin afɛkt di we aw wi mɔsul dɛn de wok, ɛn smɔl smɔl i kin mek dɛn wik. "Jɛnɛtik" min se i kin pas frɔm jɛnɛreshɔn to jɛnɛreshɔn. pan dεn kכndyushכn dεm ya, di bכdi nכ de lכs in ebul fכ prodyuz protin dεm we i nid fכ mek di mכsul dεm mεnten hεlth. Dis kin mek di mɔsul dɛn nɔ gɛt trɛnk as tɛm de go ɛn dɛn kin smɔl.
Dis na rili wan sik we dɛn kɔl mayopati, we min se i de afɛkt di mɔsul dɛn we de atak wi skel. I kin dipen pan di kayn sik we yu gɛt, i kin afɛkt yu ebul fɔ waka, muv, ɛn du wok dɛn we yu de du ɛvride. I kin afɛkt bak di mɔsul dɛn we de ɛp wi at ɛn lɔng dɛn fɔ wok.
Sɔm kayn mɔskul distrofi na tin wae dɛn kin bɔn wit ɔr kin apin wae dɛn smɔl. Ɔda kayn dɛn kin apin we pɔsin big.
Wetin na di men kayn mɔskul distrofi?
As wi bin dɔn tɔk, i pas 30 kayn dis. Bɔt lɛ wi tɔk bɔt sɔm pan di kayn we dɛn we wi kin si bɔku tɛm. I go izi fɔ yu fɔ ɔndastand dɛn tin ya we de na tebul.
| Tayp fɔ sik | Wan simpul ɛksplen |
|---|---|
| Duchenne Muskul Dystrofi (DMD) we gɛt di sik. | Dis na di kayn we we pipul dɛn kin gɛt mɔ. I kin afɛkt bɔy pikin dɛn mɔ . Girl pikin dεm kin divεlכp am bak insay wan fכm we nכ sכmtεm. As di sik de go bifo, di at ɛn di lɔng dɛn bak kin afɛkt. |
| Becker Muskul Dystrofi (BMD) we gɛt di sik. | Dis na di sɛkɔn kayn we we pipul dɛn kin gɛt. I kin afɛkt mɔ bɔy pikin dɛn bak. Di sayn dɛm kin apia pan ɛni ej bitwin 5 ɛn 60 ia, bɔt bɔrku tɛm kin bigin na yɔŋ pipul dɛm. Aw dis sik kin tranga kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. |
| Mayotonik Distrofi we dɛn kɔl | Dis na di kayn we we dɛn kin no mɔ bɔt we dɛn dɔn big. I kin afɛkt man ɛn uman ikwal. Pipul wae gɛt dis sik kin gɛt prɔblɛm fɔ rilaks wan mɔsul afta dɛn dɔn yuz am. I kin kam bak wit prɔblɛm wit di at, lɔng, ɛn ɔmon lɛk tayroyd ɛn dayabitis. |
| Distrofi we dɛn kin bɔn wit di mɔsul (CMD) . | "Congenital" min se i de de frɔm we dɛn bɔn am. Dɛn kayn tin ya kin apin we dɛn bɔn am ɔ nia dɛn bɔn am. Bɔku tɛm, dɛn kin gɛt fɔ du wit we di mɔsul dɛn wik ɔlsay na di bɔdi. Sɔntɛnde, di jɔyn dɛn kin stif ɔ lɔs. Dɛn kin mek tin dɛn bak lɛk skɔliosis, prɔblɛm wit yu brith, intɛlektual disable, yay prɔblɛm, ɔr kin gɛt sik. |
| Fasioskapulohumɛral distrofi (FSHD) . | Dis kayn kin afɛkt mɔ di mɔsul dɛm na di fes, di sholda dɛm, ɛn di ɔpa an dɛm. Bɔrku tɛm, di sayn dɛm kin kam bifo yu ol 20 ia. |
| Limb-Girdle Muskular Dystrofi (LGMD) we de mek pɔsin gɛt di sik. | dis kin afekt di mכsul dεm na di כp an, di כp leg dεm (thighs), di sכlda dεm, εn di hip dεm. I kin divɛlɔp pan ɛni ej. |
Di impɔtant tin na dat di sayn dɛm ɛn di spid we ɛni wan pan dɛn kayn sik ya kin bigin kin difrɛn, so i rili impɔtant fɔ no di kayn sik kɔrɛkt wan.
Wetin na di sayn dɛm wae de sho se yu gɛt mɔsul dɛm?
De sayn dɛm fɔ dis sik kin difrɛn bad bad wan fɔ di kayn sik. BɔtDi men sayn na we yu mɔsul wik ɛn prɔblɛm dɛn we gɛt fɔ du wit am. Dɛn sayn ya kin bɔku smɔl smɔl as tɛm de go.
Lɛ wi sheb dɛn sik ya to tu pat.
| Tayp we gɛt kwaliti dɛn | Tin dɛn fɔ si |
|---|---|
| Di kwaliti dɛm we gɛt fɔ du wit di mɔsul ɛn muvmɛnt | |
| Di mɔsul dɛn we de kɔntrakt | Mɔsul dɛn de west ɛn shrink (Muscle atrophy). |
| I nɔ izi fɔ muv | I nɔ kin izi fɔ waka, fɔ klaym stej, ɔ fɔ rɔn. |
| Di we aw pɔsin de waka we nɔmal | Waddling gait ɔ toe waka, lɛk dɔk. |
| Prɔblɛm dɛn we gɛt fɔ du wit jɔyn dɛn | Joint stiffness ɔ we nɔ nid fɔ lɔs. |
| Di mɔsul dɛn we de tayt | di mכsul dεm, di tεndon dεm, εn di skin de tayt כltεm (kכntrakt). |
| Mɔsul dɛn kin pen | Di pen na di bɔdi ɛn di mɔsul dɛn. |
| Ɔda tin dɛn we pipul dɛn kin du | |
| Di bɔdi we de taya | Taya. |
| I nɔ izi fɔ swɛla | I nɔ kin izi fɔ swɛla it ɛn drink (Dysphagia). |
| Prɔblɛm dɛn we gɛt fɔ du wit at | At ritm irɛgyulariti (arithmia) ɛn at sik (cardiomyopathy). |
| Bak chenj | Skɔliosis we de mek pɔsin gɛt sik. |
| Disabiliti fɔ lan | Sɔm kayn wae kin mek pɔrsin nɔr kin ebul fɔ lan ɔr kin mek pɔrsin nɔr de tink fayn. |
Wetin mek dis sik kin apin? Wetin na di kɔz?
di men rizin fכ dis na di chenj (mכtεshכn) dεm na di jin dεm.
Imajin se wi mɔsul dɛn gɛt wan bluprint we dɛn kɔl jin we de mek dɛn gɛt wɛlbɔdi ɛn strɔng. If chenj ɔ muteshɔn de na dɛn jin ya, dat bluprint de ambɔg. Dɔn di sɛl dɛn we de kia fɔ ɛn bil mɔsul dɛn nɔ kin ebul fɔ du dɛn wok fayn fayn wan. Dis kin mek di mɔsul dɛn wik smɔl smɔl.
Tri we dɛn de we pɔsin kin gɛt dis sik.
- rεsεsiv inhεritεns: insay dis mεtכd, di pikin fכ inhεrit di dεfekt jin frכm in mama εn papa fכ di sik fכ apin.
- Dominant inheritance: Na ya, di jin we nɔ fayn fɔ mek di sik apin, fɔ gɛt frɔm wan mama ɔ papa .
- Seks-linked (X-linked) inheritance: Dis kin kɔmplikt smɔl. uman dεm gεt tu X kromozom dεm (XX), we man dεm gεt wan X εn wan Y kromozom (XY). Di jin we nɔ fayn fɔ di sik de na di X kromozom. Man dɛn gɛt wan X kromozom nɔmɔ, so if i nɔ fayn, di sik go mɔs kam. uman dεm gεt tu X kromozom dεm, so if wan nכ de wok fayn, di כda wan we gεt hεlth X kromozom nכ kin mek dεn gεt di sik כ i kin mek dεn gεt sכmtεm sכmtεm sכmtεm sכmtεm dεm. Di tu kayn dɛn, Duchenne ɛn Becker, dɛn kin gɛt dɛn frɔm dis we.
na sכm tεm we dis sik kin apin bikoz fכ wan random jεnεtik mכtεshכn (de novo mכtεshכn) na di pikin in bכdi, we nכ gεt nכ difεkt na di mama εn papa in jin dεm.
Aw yu go no if yu gɛt dis sik?
If yu ɔ yu pikin gɛt ɛni wan pan dɛn sik ya, di fɔs tin we yu fɔ du na fɔ go to dɔktɔ we gɛt ɛkspiriɛns. Di dɔktɔ go fɔs chɛk yu gud gud wan, aks yu bɔt yu sik ɛn famili histri, ɛn afta dat i kin tɛl yu fɔ du bɔku tɛst fɔ no if yu gɛt di sik.
- Kriatin kinaz blɔd tɛst: We wi mɔsul dɛn pwɛl, dɛn kin pul wan ɛnzaym we dɛn kɔl kriaytin kinaz insay di blɔd. If di lɛvɛl fɔ dis ɛnzaym go ɔp na di blɔd, dat na sayn fɔ se di mɔsul dɛn dɔn pwɛl.
- jεnεtik tεst dεm: Dis kin dεfinitivli fכ no if dεfεkt de na di jin dεm we de asai fכ mכskul dεstrofi.
- Muscle biopsy: Dis na fɔ tek wan rili smɔl pat pan di mɔsul ɛn chɛk am ɔnda maykroskɔp. Dis kin ɛp fɔ no di sayn dɛm fɔ di sik.
- Elektromayografi (EMG): Dis tεst de mכsu di ilektrikal aktiviti fכ di mכsul dεm εn di nεv dεm.
Aw dɛn kin trit am ɛn manej am?
Di fɔs ɛn impɔtant tin fɔ tɔk na dat, no mɛrɛsin nɔr de fɔ dis sik yet. Risach pipul dɛn de kɔntinyu fɔ wok pan am.
Bɔt dat nɔ min se natin nɔ de we yu go ebul fɔ du. Bɔrku tin de wae yu kin du fɔ kɔntrol yu sik ɛn fɔ mek yu liv bɛtɛ layf.
Di we aw dɛn kin trit am kin difrɛn fɔ di kayn sik. Di men tin dɛn we dɛn kin du na:
- Fyzikal ɛn wok tritmɛnt: Dɛn tin ya kin ɛp fɔ mek di mɔsul dɛn strɔng ɛn fɔ mek dɛn ebul fɔ chenj di we aw dɛn de du tin. Dis kin ɛp fɔ mek yu ebul fɔ muv fɔ lɔng tɛm.
- Kɔtikosterɔyd: Drug dɛn lɛk prednisolone kin ɛp fɔ mek di mɔsul dɛn wik, i kin mek di lɔng dɛn wok fayn, i kin mek di bon dɛn we de lɔs slo, ɛn i kin mek i liv lɔng.
- Di tin dɛn we de ɛp yu fɔ muv: Di tin dɛn lɛk ken, waka, ɛn wilchia de ɛp yu fɔ waka, fɔ go rawnd, ɛn fɔ mek yu nɔ fɔdɔm.
- Ɔpreshɔn: I kin nid fɔ du ɔpreshɔn fɔ mek di mɔsul dɛn we tayt rilaks ɔ fɔ kɔrɛkt di skɔliosis.
- Fɔ kia fɔ yu at: If yu bigin fɔ tek mɛrɛsin kwik kwik wan lɛk ACE inhibitors ɛn beta-blockers, i kin ɛp fɔ kɔntrol di damej we di at mɔsul dɔn pwɛl. Divays dɛn lɛk peshɛnt mɛka dɛn kin nid bak.
- Spich therapy: Dis kin ɛp pipul dɛm wae nɔr kin izi fɔ swɛla.
- Kia fɔ di we aw pɔsin de blo: Dɛn kin nid tin dɛn we de ɛp pɔsin fɔ kɔf, tin dɛn we pɔsin kin yuz fɔ blo, ɛn sɔntɛnde, dɛn kin nid fɔ yuz tin dɛn we pɔsin kin yuz fɔ blo fɔ ɛp fɔ mek i nɔ ebul fɔ blo fayn.
Dis biɛn tɛm, dɛn dɔn kam wit nyu mɛrɛsin dɛn we kin chenj di we aw di sik de go insay sɔm kayn dɛn, lɛk Duchenne muscular dystrophy.
Aw layf de wit dis sik?
De lɔng tɛm wae yu kin liv wit dis sik kin difrɛn bad bad wan fɔ di kayn sik. Fɔ ɛgzampul, pipul dɛm wae gɛt Duchenne muscular dystrophy (DMD) kin day wae dɛn ol 25. Bɔt sɔm kayn, lɛk oculopharyngeal muscular dystrophy, nɔr kin gɛt ɛni impak pan di layf we dɛn kin liv. So, di bɛst pɔsin fɔ no di kɔrɛkt tin bɔt yu sik na di dɔktɔ we de trit yu.
Bikɔs dis na sik we pɔsin kin gɛt frɔm in bɔdi, no we nɔ de fɔ mek i nɔ gɛt am. Bɔt if yu gɛt dis sik, ɔ if pɔsin na yu famili gɛt am, yu kin tɔk to yu dɔktɔ bɔt fɔ gɛt kɔyl fɔ yu jɛnɛtik bifo yu bɔn pikin.
Dɛn tin ya kin ɛp fɔ mek yu nɔ gɛt ɔ delay di prɔblɛm dɛn we kin kam wit di sik ɛn mek layf izi:
- It tin dɛn we gɛt fayn fayn tin dɛn fɔ it ɛn we gɛt wɛlbɔdi.
- Drink bɔku wata fɔ mek yu nɔ gɛt wata na yu bɔdi ɛn yu nɔ go gɛt kɔnstipɛshɔn.
- Ɛksesaiz as yu ebul, lɛk aw yu mɛdikal tim tɛl yu fɔ du.
- Mek yu gɛt wɛlbɔdi wet.
- If yu de smok, lɛf fɔ smok. I kin protɛkt yu lɔng ɛn yu at.
- Gɛt di vaysin di rayt tɛm.
Fɔ liv wit sik lɛk dis kin tranga fɔ yu ɛn yu famili. So, mek shɔ ɔltɛm se yu gɛt di bɛst mɛrɛsin ɛn kia we yu nid. Dɔn bak, fɔ jɔyn sɔpɔt grup wit pipul dɛm wae dɔn pas di sem tin dɛm lɛk yu kin bi big sɔs fɔ yu maynd trɛnk.
Mɛsej we dɛn kin kɛr go na os
- Muscular dystrophy nɔto wan sik, bɔt na wan grup fɔ di jenɛtik disɔda we kin mek di mɔsul dɛn wik smɔl smɔl.
- Pan ɔl we di men sayn na we di mɔsul dɛn wik, di sayn dɛm ɛn aw di sik kin tranga kin difrɛn frɔm wan kayn to ɔda kayn.
- Pan ɔl we nɔr mɛrɛsin nɔr de yet fɔ dis, bɔrku tritmɛnt de wae kin ɛp fɔ kɔntrol de sik ɛn liv bɛtɛ layf.
- If yu ɔ yu pikin gɛt sayn dɛn we de sho se in mɔsul dɛn wik, go to dɔktɔ wantɛm wantɛm fɔ advays. Di kwik we dɛn no di sik, na di mɔ i go izi fɔ mɛn am.
- Nɔto yu wan de. Mεdikal tim dεm εn sכpכt grup dεm de fכ εp yu εn yu famili pan dis joyn.
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