Yu pikin gɛt kɔnjɛnital mɔsul wikɛd? Lɛ wi lan bɔt Congenital Myopathy.

Yu dɔn ɛva fil lɛk se yu smɔl pikin de limp smɔl, lɛk se dɛn nɔ gɛt layf? Ɔ yu tink se di dɔktɔ dɛn bin tɔk sɔntin bɔt dɛn mɔsul dɛn jɔs afta dɛn bɔn dɛn? Na nɔmal tin fɔ mek yu fred smɔl we yu yɛri tin dɛn lɛk dis. Tide wi go tɔk bɔt wan jenɛtik kɔndishɔn we kin mek dɛn gɛt dɛn sik ya, bɔt i nɔr kin bɔrku.

Wetin na Congenital Myopathy?

Fɔ tɔk am simpul wan, Congenital Myopathy na wan sik we nɔ kin apin so ɔltɛm. Dis kin mek wi mɔsul dɛn wik. Di wɔd ‘Congenital’ min ‘present frɔm we dɛn bɔn am’. ‘Mayopati’ min ‘sik we de na di mɔsul dɛm’. So, we dɛn bɔn pikin dɛn we gɛt dis sik, dɛn mɔsul dɛn kin gɛt smɔl mɔsul dɛn . Dɛn kin fil lɛk se dɛn bɔdi de swɛla. Wi kin kɔl dis bak ‘Hypotonia’ insay mɛrɛsin.

Apat frɔm dis we aw di mɔsul dɛn wik, dɛn kin si ɔda sayn dɛn. Fɔ ɛgzampul:

• skel prכblεm dεm (i.e., wik bon dεm כ di bon dεm we nכ de alaynd fayn) .
• I nɔ kin izi fɔ yu fɔ blo
• I nɔ izi fɔ gi pikin in bɛlɛ ɛn it

Sɔntɛnde, dɛn kin si dɛn sayn ya we dɛn bɔn am. Ɔ, dɛn kin apia we dɛn smɔl ɔ we dɛn smɔl. Imajin aw mama ɔ papa go fred if dɛn si pikin we dɛn jɔs bɔn de ledɔm ɛn nɔ muv ɛn nɔ gɛt layf.

Wetin na di men kayn mayopathy we dɛn bɔn wit?

Na lɛk siks men kayn mayopathy we dɛn bɔn wit. Ɔda kayn dɛn de bak we nɔ kin apin so ɔltɛm we dɛn dɔn no. Ɛni kayn kin difrɛn pan di sayn dɛm, aw di sik kin tranga, di tritmɛnt we dɛn kin pik, ɛn di prɔgnosis fɔ di pɔsin.

Naw lɛ wi luk dɛn siks men kayn dɛn ya smɔl mɔ.

Sɛntral Kɔr Sik

Dis na di kayn we we dɛn kin bɔn wit mayopathy. Sɛntral Kɔr Disiz na wan kayn mayopati we dɛn kɔl Kɔr Mayopati. Bɔku tɛm, dɛn kin bɔn pikin dɛn wit wan sik we dɛn kɔl limp, ɔ hypotonia. Dɛn pikin ya kin delay fɔ divɛlɔp maylston (lɛk fɔ sidɔm ɛn rɔl oba). Dɛn kin gɛt smɔl smɔl wikɛdnɛs bak na dɛn an ɛn fut. Di gud nyus na dat, i nɔ kin tan lɛk se dis wikɛd tin de wɔs as tɛm de go. Sεntri Kכr Disease de kכz bay wan mכtεshכn na di jin we dεn kכl RYR1.

Minikɔr/Mɔltikɔr Sik

Dis na ɔda kayn mayopati we de insay di sem kategori we wi bin dɔn tɔk bɔt ‘Kɔr Mayopati’. I gɛt sɔm sɔbtayp dɛn bak. Dɛn kin kɔl am bak ``Minicore Disease'' ɔ ``Multicore Disease''. pan bכku pan dεn sכbtayp dεm ya, dεn kin si bכku wik na di an εn di leg dεm.כlso, dεn kin si di kכva fכ di spayna, dat na, `(Scoliosis)`, bכku tεm. I nɔ kin izi fɔ blo bak, ɛn i kin mek di yay nɔ muv fayn. dis kin bi bak bay wan mכtεshכn na di `(RYR1)` jin we wi bin dכn tכk bכt כ כda jin.

Nemalin Mayopati we pɔsin kin gɛt

Nemaline Myopathy na ɔda kayn mayopathy we dɛn bɔn wit we dɛn bɔn wit. Bebi dεm we gεt dis kכndyushכn kin gεt prכblεm fכ brith εn fכ it. Bɔku tɛm bak, dɛn kin gɛt wikɛd tin na dɛn fes, nɛk, an, ɛn fut. pan tap dat, dεn kin gεt skel kכmplikεshכn lεk skכliosis. Nemaline Myopathy de kכz fכ wan mכtεshכn insay wan pan difrεn jin dεm, we inklud NEM2, ACTA1, εn TPM2.

Sɛntrɔnyukliar Mayopati

Dis na wan kayn we we nɔ kin apin so ɔltɛm we dɛn bɔn wit mayopati. di simptom dεm fכ `(Centronuclear Myopathy)` na we yu pikin in an, in leg, εn in fes wik, in yay lid dεm de dכn, εn i gεt prכblεm wit in yay muvmεnt. Bɔt i sɔri fɔ no se dis wikɛd tin kin wɔs as tɛm de go. i de kכz fכ wan mכtεshכn insay di jin dεm `(DNM2)`, `(BIN1)`, כ `(RYR1)`.

Mayotubular Mayopati we dɛn kɔl

Myotubular Myopathy na wan rare congenital myopathy we kin afekt כnli man pikin dεm. If na so i bi, di bɔdi kin rili flay ɛn wik. I nɔ kin izi fɔ blo ɛn swɛla bak. Dɔn bak, wan sik we dɛn kɔl ɔstiopenia kin bɔku. I sɔri fɔ no se bɔku pikin dɛn nɔ kin liv di fɔs ia na dɛn layf. dis de kכz fכ wan mכtεshכn na di jin we dεn kכl MTM1.

Kɔnjɛnital Fayba-Tayp Disproporshɔn Mayopati

Dis na tin bak we nɔ kin apin so ɔltɛm. `(Kongenital Fayba-Tayp Disproportion Myopathy)` de bigin bak wit wan limp. Di sayn dɛm na wae yu fes, yu an, ɛn yu fut wik, ɛn yu nɔr kin ebul fɔ blo fayn. Pan ɔl we bɔku pikin dɛn kin rili afɛkt dɛn, di we aw dɛn de blo kin bɛtɛ smɔl we dɛn de ol. mכtayshכn dεm na di jin dεm `(TPM3)`, `(ACTA1)`, `(TPM2)`, `(MYH7)`, εn `(RYR1)` dεn dכn no insay pikin dεm we gεt dis kכndyushכn.

Wetin na di kɔmɔn simptom dɛm fɔ congenital myopathy?

As wi bin dɔn tɔk bifo tɛm, di sayn dɛm fɔ dɛn kayn mayopathi ya we dɛn bɔn kin difrɛn difrɛn wan bay di kayn. Dɔn bak, dɛn kin si dɛn we dɛn bɔn am ɔ dɛn kin apia we dɛn smɔl ɔ we dɛn smɔl. Bɔt sɔm kɔmɔn sayn dɛn de we dɛn kin si bɔku tɛm. Dɛn na:

• Hypotonia: Yu pikin in mɔsul dɛn kin fil wik ɛn nɔ gɛt layf. Dis kin bɔku as tɛm de go, ɛn sɔntɛnde, i kin go dɔŋ.
• di mכsul dεm we wik: spεshal wan pan pikin dεmdi mכsul dεm na di nεk, sכlda, εn hip (proksimal mכsul dεm) na dεn wan dεm we kin wik mכst.
• I nɔ kin izi fɔ yu fɔ blo: As di mɔsul dɛn we de ɛp yu fɔ blo de wik, yu kin gɛt prɔblɛm fɔ blo ɛn yu kin fil se yu chɛst tayt.
• di dilay we di pikin de divεlכp: di maylston dεm we di pikin de divεlכp, lεk fכ sidon, kray, tinap, εn waka, nכ de apin di tεm we i de εkspεkt. Fɔ ɛgzampul, dis pikin kin gɛt prɔblɛm fɔ ol dɛn ed ɔp we ɔda pikin dɛn we dɛn ej de du dat.
• Prɔblɛm fɔ it: I nɔ kin izi fɔ sok frɔm in nipl ɔ bɔtul, i nɔ kin izi fɔ it wit spun, fɔ it it, ɔ fɔ drink wata. Dis kin mek bak yu nɔ gɛt bɔku bɔku bɔdi.
• Fɔdɔm/Stɔm: As yu de ol, yu kin fɔdɔm ɛn stɔp bɔku tɛm we yu de waka bikɔs yu mɔsul dɛn wik.

Wetin na di tin dɛn we kin mek pɔsin gɛt mayopathy we pɔsin bɔn wit?

infakt, di men tin we kin mek bכku pan dεn mayopathi dεm ya we dεn bכn wit na di chenj dεm na di spεshal jin dεm we dεn kכl mכtεshכn. Dɛn jin ya tan lɛk smɔl smɔl tin dɛn we de kɔntrol ɔltin na wi bɔdi. Tink bɔt am lɛk wan risɛp. If mistek de na wan pat pan da risɛp de, di wan ol it kin pwɛl, nɔto so? Na so i kin bi wit di chenj dɛn we de apin na di jin dɛn. We dɛn jin ya chenj, i kin afɛkt di pikin in mɔsul dɛn, di nɛv dɛn we de mek di mɔsul dɛn wok, ɛn sɔntɛnde di pikin in bren. Dis na di rizin we mek dɛn mɔsul dɛn de we wikɛd kin apin.

Aw dɛn kin no se pɔsin gɛt mayopathy we dɛn bɔn wit?

As soon as yu bכn yu pikin, dεn go כltεm fכ egzamin dεm bay spεshal dכkta na di nyu bכbi yunit (`Neonatologist`) כ pikin dεm (`Pediatrician`). If dɛn sɔprayz se dɛn gɛt wan sik, dɛn kin ɔda sɔm tɛst fɔ no if dɛn dɔn no if dɛn gɛt di sik. Dɛn kin rifer yu pikin bak to spɛshal pɔsin we de stɔdi bɔt nyurolɔji (`Nyurolɔjis`) ɛn sɔntɛm spɛshal pɔsin we sabi bɔt jɛnɛtiks (`Jɛnɛtiks`).

Dɛn tɛst ya kin bi:

• bכdi tεst: dis kin chεk fכ inkrεs lεvεl fכ wan εnzym we dεn kכl ``Creatine Kinase'', we de kכmכt insay di bכdi we di mכsul dεm dכn pwεl.
• Ilektromyogram (EMG) tɛst: EMG kin mɛzhɔ di ilɛktrik aktiviti we yu pikin in mɔsul dɛn de du. Dis de sho aw di mɔsul dɛn de wok fayn fayn wan.
• Muscle Biopsy: Dis min se yu fɔ tek wan rili smɔl pat pan yu pikin in mɔsul ɛn chɛk am ɔnda maykroskɔp. Dis kin ɛp fɔ si wetin chenj de apin na di mɔsul sɛl dɛn. Dis tan lɛk smɔl ɔpreshɔn, bɔt i nɔto natin fɔ wɔri bɔt.
• Tɛst fɔ di Jɛnɛtiks:Dis na di tɛst wae kin ɛp bɔrku tɛm fɔ no di sik fayn fayn wan. I kin no ɛni chenj, ɔ muteshon, na di jin dɛm we de mek pɔsin gɛt mayopathy.

Wetin na di tritmɛnt dɛm fɔ congenital myopathy?

Di tru tin na dat, no mɛrɛsin nɔ de fɔ dɛn kayn mayopathy ya we dɛn bɔn wit. Dis kin tan lɛk se i sɔri, bɔt na tru. Bɔt sɔm tritmɛnt dɛn de we go ɛp fɔ kɔntrol di sik dɛn ɛn ɛp yu pikin fɔ liv fayn layf as i ebul.

Fɔ sɔm kayn, lɛk ``Sɛntral Kɔr Disease'' ɛn ``Minicore Disease'', kes dɛn de we dɛn kin yuz wan mɛrɛsin we dɛn kɔl ``Albuterol''. Pan ɔl we dis stil de na di risach stej, dɛn dɔn si se i de ɛp fɔ ridyus di wikɛdnɛs we di pikin kin gɛt te to sɔm mak. Bɔt mɛmba se dis nɔto mɛrɛsin fɔ di sik.

Di tritmɛnt fɔ ɔl ɔda kayn dɛn kin jɔs bi fɔ mɛn di pikin in sik dɛn. Dis tritmɛnt fɔ gɛt:

• Ɔtpidik tritmɛnt: If nid de, trit di bon prɔblɛm dɛn. Fɔ ɛgzampul, ɔpreshɔn ɔr yuse sɔpɔt divays kin nid fɔ de fɔ tin dɛm lɛk skɔliosis.
• Fizik Tɛrapi: Dis rili impɔtant. I de tich di pikin fɔ du ɛksɛsayz ɛn difrɛn we dɛn fɔ mek di mɔsul dɛn strɔng, fɔ mek i muv fayn, ɛn fɔ mek di pikin balans fayn.
• Occupational Therapy: Dis kin min fɔ ɛp di pikin fɔ du di wok dɛn we i kin du ɛvride fɔ insɛf. Fɔ ɛgzampul, fɔ ɛp wit tin dɛn lɛk fɔ drɛs, it, ple, ɛn fɔ rid ɛn rayt.
• Spich Therapy: Fɔ ɛp wit prɔblɛm wit di prɔblɛm fɔ tɔk ɛn di prɔblɛm fɔ swɛla.

Di tin we impɔtant pas ɔl na dat, dɛn kin mek ɔl dɛn tritmɛnt ya fɔ di pikin in nid, ɔnda di gayd we spɛshal dɔktɔ ɛn tritmɛnt pipul dɛn kin gi, ɛn dɛn kin du am as wan tim.

Apat frɔm dat, dɛn de mek ɔda tritmɛnt dɛn we dɛn kin tray fɔ du, lɛk di tritmɛnt dɛn we dɛn kin yuz fɔ mɛn pipul dɛn we gɛt jin ɛn wi op se dɛn tin ya go gi gud tin dɛn tumara bambay.

Wan we de fɔ mek mi pikin nɔ gɛt congenital myopathy?

Dis na kwɛstyɔn we rili at fɔ aks. Bikɔs na wan jenɛtik muteshɔn de mek pɔsin gɛt mayopati we dɛn bɔn wit, no we nɔ de fɔ mek dis sik nɔ apin.

Bɔt if yu de wɔri ɔ yu tink se yu go gɛt pikin we gɛt wan sik we de mek yu gɛt jɛnɛtiks, di bɛst tin we yu go du na fɔ tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks ɛn if nid de, fɔ tɛst yu jɛnɛtiks.I impɔtant mɔ fɔ tɔk bɔt dis bifo yu bɔn pikin, mɔ if pɔsin na yu famili gɛt mayopathy ɔ ɔda jenɛtik kɔndishɔn. Wan pɔsin we de advays yu bɔt yu jɛnɛtiks kin tɛl yu mɔ bɔt dis ɛn asɛs yu risk.

Wetin go apin if mi pikin gɛt Congenital Myopathy?

I at fɔ gi wan ansa to dis kwɛshɔn, bikɔs di prɔgnosis kin difrɛn bad bad wan dipen pan di kayn mayopathy we pikin gɛt we i bɔn ɛn aw di sik siriɔs.

Mayopathy we yu gɛt frɔm yu mama ɛn papa kin mek yu gɛt prɔblɛm wit yu skel fɔ lɔng tɛm, lɛk:

• di muvmεnt we de dכn na di joyn dεm.
• Hip prɔblɛm dɛn.

Dɔn bak, di layf we pɔsin kin liv kin difrɛn frɔm wan pɔsin to ɔda pɔsin. If yu pikin gɛt siriɔs prɔblɛm fɔ blo, i kin gɛt prɔblɛm wit di we aw i de blo ɔ i kin gɛt prɔblɛm dɛn lɛk nyumonia. If tin tranga, dɛn tin ya kin mek pɔsin in layf de pan denja.

Bɔt sɔm pikin dɛn we gɛt smɔl sik kin gro fɔ bi nɔmal ɛn liv ful layf. Dɛn kin go skul, ple, ɛn du dɛn yon wok dɛn.

So, i impɔtant fɔ tɔk opin wan wit yu pikin in dɔktɔ bɔt in patikyula sik. Dɛn go ebul fɔ gi yu di kɔrɛkt infɔmeshɔn ɛn ansa ɛni kwɛstyɔn we yu gɛt.

Wetin na di difrɛns bitwin Congenital Myopathy ɛn Muscular Dystrophy?

Yu go dɔn yɛri bak bɔt wan sik we dɛn kɔl muscular dystrophy. Na sik bak we pɔsin kin gɛt we i de mek di mɔsul dɛn wik. Bɔt sɔm impɔtant tin dɛn de we difrɛn bitwin dɛn tu.

• di tεm we di sik bigin: Insay di mayopathy we dεn bכn wit, di simptom dεm de sho we dεn bכn am כ we dεn bכn pikin/pikin. Bɔt pan di sik we dɛn kɔl muscular dystrophy, sɔm pipul dɛn kin gɛt sɔm sayn dɛn we dɛn bɔn dɛn, ɛn ɔda wan dɛn kin gɛt dis sik we dɛn smɔl, we dɛn yɔŋ, ɔ ivin big.
• Wetin kin apin to di mɔsul dɛm: Insay di mɔsul dɛm we gɛt distrofi, di mɔsul dɛm kin pwɛl smɔl smɔl ɛn kin kam bak. Dɔn bak, mɔskul distrofi na sik we de go bifo, we min se di sayn dɛm kin wɔs as tɛm de go. insay di mayopathi dεm we dεn bכn wit, di mכsul dεm we wik kin stebul כ i kin divεlכp sכmtεm (wit sכm εksepshכn dεm).
• di ifekt pan כda כgan dεm: Muscular dystrophy kin afekt di at εn lכng dεm bak as tεm de go. dis nכ kin kכmכn lεk pan di mayopathi dεm we dεn bכn wit (eksept fכ sכm tכp dεm).
• Diagnosis: Dɔktɔ dɛn kin no klia wan difrɛns bitwin dɛn tu sik ya tru difrɛn lab tɛst dɛn, mɔ we dɛn tek di mɔsul bayɔpsi.

Fɔ tɔk am simpul wan, insay di mayopathies we dɛn bɔn wit, di we aw di mɔsul dɛn wik kin de di sem as tɛm de go, ɔ i kin bɛtɛ smɔl (eksept pan sɔm kayn siriɔs wan dɛn). כltu, ``Muscular Dystrophy`` na wan kכndyushכn we kin bכku tεm de wכs sכmtεm.

Fɔ dɔn, tin dɛn we yu nid fɔ mɛmba (Take-Home Message) .

A ɔndastand se na big big lod ɛn shok fɔ yɛri se yu pikin gɛt dis kayn sik we nɔ kin apin so ɔltɛm, we dɛn bɔn wit, ɛn i at fɔ tɔk bɔt am. I rili at fɔ kam fɔ gri wit am.

Bɔt mɛmba se nɔto yu wangren de. Wan big tim de we gɛt spɛshal pipul dɛn, we gɛt dɔktɔ dɛn, fisiotɛrapist dɛn, ɔkupeshɔn tɛrapist dɛn, ɛn tɔk tɛrapist dɛn, we de ya fɔ ɛp yu ɛn yu pikin. Dɛn gol na fɔ ɛp yu pikin fɔ liv lɔng as dɛn ebul, ɛn fɔ ɛp am fɔ de fil fayn ɛn du tin dɛn we i ebul fɔ du.

Sɔpɔt savis de fɔ yu ɛn yu famili fɔ ɛp yu fɔ bia wit de prɔblɛm wae de kam wit de sik lɛk dis. Sɔntɛnde, dɛn savis ya kin de bak fɔ ɛp yu fɔ bia we pikin day. Sɔntɛm ɔganayzeshɔn dɛn de na Sri Lanka we de ɛp pikin ɛn famili lɛk dis, so chɛk dɛn.

Na tru se if pɔsin na yu famili dɔn gɛt mayopati ɛn yu de wet fɔ bɔn pikin, tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks bifo yu gɛt bɛlɛ. Dɛn kin ɛp yu fɔ no yu risk fɔ gɛt pikin we gɛt wan sik we dɛn kɔl jenɛtik.

Pan ɔl we dis waka at fɔ waka, if yu gɛt di rayt tin fɔ no bɔt yu, yu go gi yu di rayt advays we yu go gi yu, ɛn yu go gɛt di trɛnk fɔ bia wit am. Nɔ giv ɔp fɔ op. Mek yu gɛt di trɛnk fɔ du ɔl wetin yu ebul fɔ yu pikin!

` Kɔnjɛnital Mayopati, Mɔsul Wiknɛs, Pikin Sik, Jɛnɛtik Sik, Hypotonia, Jɛnɛtik Tɛst, Fizik Tɛrapi