Yu ɔ yu pikin in bɔdi de slo? Yu tink se na Nemaline Myopathy?

Sɔntɛnde yu kin fil lɛk se yu bɔdi wik bad bad wan, ɔ yu smɔl pikin de du tin leta smɔl pas ɔda pikin dɛn, ɔ i tan lɛk se i nɔ gɛt trɛnk? Dɛn tin ya kin apin fɔ difrɛn rizin dɛn. Bɔt tide wi go tɔk bɔt wan sik we nɔ kin apin so ɔltɛm bɔt we impɔtant fɔ no bɔt. Dat na wan sik we dɛn kɔl Nemaline Myopathy .

Wetin na Nemaline Myopathy?

Fɔ tɔk am simpul wan, Nemaline Myopathy na wan sik we de afɛkt di mɔsul dɛm we de ɛp wi bɔdi fɔ muv (dɛn kin kɔl am bak skel mɔsul dɛm ). dis kin mek di mכsul dεm wik (myopathy) na difrεn pat dεm na di bכdi. Sɔntɛnde, dɛn sayn ya kin de we dɛn bɔn am, ɔ we i smɔl, ɛn i nɔ kin apin so ɔltɛm we i big. Dis mכsul dεm we wik kin afekt:

• To yu fes
• To di nek
• To di hip eria
• To di sholda dɛn
• Fɔ di ɔp an ɛn leg dɛn

Sɔntin de we spɛshal bɔt dis nemaline myopathy. dat min se we wi egzamin di mכsul dεm (wi de du bayopsi ), wi de si tin dεm we lεk tכd, sכm sכm stik dεm insay di mכsul dεm (dεn kכl dis nemaline bodies) . Di Grik wɔd "nema" min bak "lɛk trɛd". So na so dis sik get in nem. Dɛn kin kɔl am ɔda nem dɛn bak, sɔntɛm yu dɔn yɛri bɔt am:

• Di sik we dɛn kin bɔn wit rod
• Nemaline bɔdi sik
• Rod mayopati we pɔsin kin gɛt

Bɔrku pipul dɛm wae gɛt nemaline myopathy kin bɔn wit wan jenɛtik muteshɔn wae dɛn gɛt frɔm dɛn mama ɛn papa . Bɔt, na smɔl tɛm nɔmɔ, di kɔndishɔn kin apin we nɔ gɛt ɛni famili histri, ɛn i kin bi bikɔs ɔf wan random jin muteshɔn.

Di impɔtant tin na dat, no mɛrɛsin nɔ de fɔ nemaline myopathy. Bɔt difrɛn tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik ɛn mek layf izi. Pipul wae gɛt di kayn nemaline myopathy wae kin pasmak kin liv nɔrmal, aktif layf.

Difrɛn kayn Nemaline Myopathy de?

Yes, siks men kayn nemaline myopathy de. Di tɛm we di sik kin bigin ɛn aw di sik kin tranga kin difrɛn fɔ di kayn sik. 1. Typical congenital nemaline myopathy: Dis na di kayn we we dɛn kin gɛt mɔ . Na lɛk af pan ɔl di wan dɛn we gɛt nemaline myopathy de pan dis kayn. Dis na wan sik we de apin we dɛn bɔn am. 2. Intamεdiεt kכnεgεt nεmalin mayopati:Na dis kayn, di sayn dɛm nɔr kin tranga pas di kayn sik wae kin pasmak, bɔt i kin tranga pas di nɔrmal kayn. Na lɛk 20% pan di sik pipul dɛn gɛt dis kayn. 3. Sivεri kכnεjital (niכnatal) nemaline myopathy : Dis na siriכs kכndyushכn we de de we dεn bכn am . Na lɛk 16% pan di sik pipul dɛn gɛt dis kayn. 4. pikin- onset nemaline myopathy: Dis kayn we de apin bitwin di ej dεm we de bitwin 10 εn 20. sכm pas 10% pan di sik pipul dεm gεt dis kayn. 5. Adult-onset nemaline myopathy : Dis kכndyushכn kin apin bitwin di ej 20 εn 50. Na lεk 4% pan di sik pipul dεm gεt dis kayn. 6. Amish nemaline myopathy : Dis na wan patikyula kayn we we dɛn kin si pan di Amish kɔmyuniti. I nɔ kin apin so ɔltɛm ɛn bɔku tɛm i kin mek pɔsin day we i smɔl.

Udat kin gɛt dis sik?

Nemaline myopathy kin afɛkt ɛnibɔdi, ilɛksɛf na man ɔ uman, rays, ɔ rilijɔn. Bɔt if wan pan yu mama ɛn papa ɔ ɔl tu gɛt di jin we de mek pɔsin gɛt di sik, dat go mek yu gɛt mɔ prɔblɛm . Pipul dɛn na di Amish kɔmyuniti sɛf de pan ay risk. Na sik we nɔ kin bɔku . Risach pipul dɛn se dis sik kin apin to lɛk wan pan ɛvri 50,000 pikin dɛn we dɛn bɔn layf layf wan. Bɔt na di Amish kɔmyuniti, dɛn kin se wan pan ɛvri 500 pipul dɛn kin gɛt dis sik.

Wetin na di tin dɛm wae kin mek pɔrsin gɛt Nemaline Myopathy?

Nemaline myopathy na wan sik we de na wi skel ɛn mɔsul sistɛm . Bɔku tɛm, na di chenj dɛn we de apin na di jin dɛn, we dɛn kɔl jin muteshɔn . Dɛn jin muteshon ya kin kɔmɔt frɔm wan ɔ ɔl tu mama ɛn papa.

• sכmtεm, dis kכndyushכn kin apin if dεn tu mama εn papa kכri di abnכmal jin (i.e., i inhεrit as כ tosom rεsεsiv trayt) .
• sכm tεm, i kin divεlכp ivin if na wan mama εn papa nכmכ gεt di abnכmal jin (dat na, as כ tosom dכminant trayt ).
• sכmtεm, dis kכndyushכn kin apin bak frכm nyu, random jεnεtik mכtεshכn insay wan sεl כ eg.

dis kin bi fכ di mכtεshכn dεm na di jin we dεn kכl Nebulin (NEB) כ di jin we dεn kכl Actin alpha-1 (ACTA1) . Nεbulin εn aktin na tu kayn protin dεm we de εp wi mכsul dεm fכ kכntrakt. Tink bɔt dɛn lɛk pat dɛn na mashin. We prɔblɛm de wit dɛn pat ya, di mɔsul dɛn kin stɔp fɔ wok fayn fayn wan.

Wetin na di sayn dɛm fɔ dis sik?

Di men sayn dɛm fɔ nemaline myopathy na:

• di mכsul tכn we dεn dכn dכn (Hypotonia) : Na fכ fil fכ wik na di bכdi, lεk rכba bכl.
• Riflεks dεm we dεn dכn dכn כ we dεn lכs: I de dכn di ebul fכ muv di leg we di dכkta tap di kכn wit sכm hama.
• Mɔsul dɛn wik: Na filin fɔ wikɛd na di bɔdi .

If yu pikin we yu jɔs bɔn sho dɛn sik ya, yu kin si ɔda tin dɛn bak lɛk:

• Wan abnɔmal we aw pɔsin kin waka (gait disorder) .
• Delayed motor skills: Delay pan tin dɛm lɛk fɔ sidɔm, tinap, ɛn fɔ kɔntrol ed.
• I nɔ kin izi fɔ tɔk ɛn swɛla (dysarthria ɛn dysphagia) .
• di jaw eria de posishכn fa bak pas nכmal (retrognathia) .
• Fɔ tek wan lɔng fes shep .
• di abnכmal kכva na di כp palata na di mכt .
• Slurred tok (vεlofarin disfכnkshכn) .
• We yu de blo wik we yu de slip (nocturnal hypoventilation) , we kin mek di kabon dayɔgzayd we de na di blɔd go ɔp (hypercarbia) .
• I nɔ izi fɔ blo (dyspnea) .

Pipul wae gɛt dis sik kin gɛt ɔda sayn dɛm wae dɛn de ol :

• Di spayna nɔ stif .
• Skɔliosis we dɛn kɔl .
• Jɔyn kɔntrakt dɛn .
• Wan chɛst we dɔn sink (pectus excavatum) .

Aw dɛn kin no dis sik?

Fɔs, dɔktɔ go aks yu ɔ yu pikin bɔt yu sik ɛn if ɛnibɔdi na yu famili dɔn gɛt dis kayn sik. Dɔn, dɛn go du ɛgzam fɔ dɛn bɔdi. If di dɔktɔ tink se nemaline myopathy, i go ɔda fɔ mek dɛn tek di mɔsul bayɔpsi . Dis min se dɛn fɔ pul wan smɔl pat pan di mɔsul we dɛn de du ɔpreshɔn ɛn chɛk am. If yu ɔ yu pikin gɛt dis sik, yu go si di tin dɛn we tan lɛk trɛd (nemaline bɔdi) na da pat pan di mɔsul de. Di dɔktɔ go du di jenɛtik tɛst bak .Dɛn kin rɛkɔmɛnd am bak. dis kin kכnfכm di kכndishכn fכ nemaline myopathy.

Aw dɛn kin trit am?

As wi bin dɔn tɔk, no patikyula mɛrɛsin nɔ de fɔ dis. So, di tritmɛnt na fɔ ridyus di sayn dɛm ɛn ɛp fɔ mek layf izi . Di tritmɛnt kin inklud:

• Ɛp fɔ mek yu nɔ ebul fɔ blo fayn: Dis kin inklud fɔ put tracheostomy , fɔ kɔnɛkt to mɛkanikal ventileshɔn mashin, ɔ yuz BiPAP mashin.
• Ɛksesaiz we nɔ gɛt bɛtɛ impak: Mek di mɔsul dɛn kɔntinyu fɔ gɛt trɛnk.
• Masaj tɛrapi ɛn fizik tɛrapi : Mek di mɔsul dɛn kɔntinyu fɔ wok.
• Spich therapy : Ridyus di prɔblɛm fɔ tɔk ɛn fɔ stɔp fɔ tɔk.
• di tεknik dεm fכ strεch : I de mek di mכsul dεm muv bכku.
• Di tin dɛn we pɔsin kin yuz fɔ waka: Tin dɛn lɛk tik, stik, knee bres, ɛn wilchia.

If di sayn dɛm wae de sho se yu gɛt dis sik bad bad wan, ɔr ɔda prɔblɛm dɛn de wit yu wɛl bɔdi, yu kin nid fɔ go na ɔspitul . We pɔsin de na ɔspitul, i kin gi dɛn tritmɛnt dɛn ya:

• Sɔpɔt we yu de yuz fɔ blo: Lɛk we yu de yuz mashin fɔ mek yu blo fɔ ɛp yu fɔ blo we yu de slip.
• Ɔpreshɔn : Trit jɔyn kɔntrakt ɔ skɔliosis .
• Enteral nutrition : If yu gɛt prɔblɛm fɔ swɛla it.

Yu tink se dis risk kin ridyus?

Fɔ tɔk tru, no we nɔ de fɔ mek yusɛf ɔ yu pikin nɔ gɛt nemaline myopathy. Bɔt i rili impɔtant fɔ no bɔt di sayn dɛm, go to dɔktɔ kwik kwik wan, ɛn bigin tritmɛnt if nid de .

Us kayn tumara bambay pɔrsin wae gɛt dis sik kin ɛkspɛkt?

Dis kin rili difrɛn bɔku bɔku wan dipen pan di kayn sik .

• Tipik kɔngenital nemaline myopathy: di mכsul dεm we wik kin de di sem as tεm de go. Bɔt as yu de ol, di wikɛd tin kin go ɔp smɔl we yu de gro.
• Sivεr congenital (neonatal) nemaline myopathy: Dis kin mek i gεt kכmplikεshכn . Fɔ ɛgzampul:
• Bɔku jɔyn dɛn kin stɔp na say we dɛn bɛn ɔ we dɛn dɔn ɛkstɛnd (Arthrogryposis multiplex congenita) .
• We yu inhal it ɔ wata we yu de bloNyumonia we dɛn kin gɛt we dɛn de aspir .
• Fraktrɔs dɛn.
• Di sik we de na di at mɔsul dɛn (Cardiomyopathy) .
• Di we aw pɔsin de blo fayn .
• Intermediate congenital nemaline myopathy: Bɔku pipul dɛn kin nid ɛp fɔ blo ɛn wilchia.
• di nemaline myopathy we kin bigin we yu smɔl : Dis kin mek yu fut drɔp, we na we yu nɔ ebul fɔ bɛn di fut ɔp di anklɛ. I kin mek bak di anklɛ ɛn di mɔsul dɛn we de dɔŋ di leg nɔ de muv.
• Adult-onset nemaline myopathy : Dis kin mek kɔmplikɛshɔn dɛn bak :
• I nɔ kin izi fɔ yu fɔ blo.
• i at fכ ol di ed stret biכs di nεk mכsul dεm wik.
• Di prɔblɛm dɛn we kin apin to pɔsin we gɛt at sik.
• Smɔl smɔl di mɔsul dɛn we de wik.
• Amish nemaline myopathy : Di prɔblɛm dɛn we kin apin na dis kɔndishɔn na we di mɔsul dɛn kin wik, we di pɔsin nɔ kin ebul fɔ blo fayn, ɛn we di mɔsul dɛn kin dɔn atrofi .

So, as fɔ tumara bambay, i dipen pan di kayn sik ɛn aw di sayn dɛn go tranga . Sɔmbɔdi wae gɛt di kayn sik wae nɔr kin pasmak (typical congenital nemaline myopathy) kin ebul fɔ waka witout ɛni sɔpɔt. Bɔt pipul dɛm wae gɛt di kayn sik wae pasmak (Amish nemaline myopathy) kin liv fɔ lɛk tu ia so.

Bɔt nɔ wɔri. Pan ɔl we no mɛrɛsin nɔ de, if dɛn trit dɛn fayn, bɔku pipul dɛn we gɛt nemaline myopathy kin liv lɔng layf . Dipen pan di kayn sik, di layf we pɔsin kin liv kin de frɔm sɔm mɔnt to ɔl in layf.

Aw yu kin kia fɔ yusɛf ɔr yu pikin if dɛn gɛt dis sik?

Yu kin ɛp fɔ ridyus de prɔblɛm wae de kam wit dis sik bay wae yu du dɛn tin ya:

• Chek yu at fɔ wok ɔltɛm.
• Go to dɔktɔ ɛn tritmɛnt wantɛm if yu gɛt infɛkshɔn we de na di say we yu de blo (e.g. bronchitis , chɛst kɔnjɛshɔn, nyumonia ).

If yu na pɔsin we gɛt di jin fɔ dis sik ɛn yu de op bak fɔ gɛt pikin, i go fayn fɔ mek yu mit wit pɔsin we de advays yu bɔt yu jɛnɛtiks fɔ advays .

Mɛmba as sɔmari

Nemaline Myopathy (NM) na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di skel mɔsul dɛm. di men sayn dεm na we di mכsul dεm de dכn εn di mכsul dεm we de wik. Bɔku kayn dis sik de, ɛn ɛni wan pan dɛn kin gɛt difrɛn we aw dɛn kin bigin ɛn aw i kin tranga. Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ mɛn am, tritmɛnt dɛn de fɔ ridyus di sik dɛn.. Bɔrku pipul dɛm wae gɛt di kayn we wae kin pasmak (typical congenital nemaline myopathy) kin liv indipɛndɛnt layf wit di rayt tritmɛnt. Di prɔgnosis fɔ ɔda kayn dɛn kin difrɛn difrɛn wan bay aw di sik dɛn kin tranga. So, i rili impɔtant fɔ fala di advays we dɔktɔ gi yu ɛn gɛt di rayt kia . Nemaline Myopathy, Mɔsul Wiknɛs, Jɛnɛtik Sik, Pikin Sik, Nyuromɔskul Sik, Prɔblɛm fɔ Brith, Mɔsul Bayopsi