Yu smɔl pikin gɛt dis sik we nɔ kin apin so ɔltɛm? (Infantile Neuroaxonal Dystrophy - INAD) Lɛ wi no bɔt dis!

Tide wi go tɔk bɔt wan sik we nɔ kin apin so ɔltɛm we bɔku mama ɛn papa dɛn nɔ ɛva yɛri bɔt, bɔt we kin afɛkt pikin dɛn. dεn kכl am `(Infantile Neuroaxonal Dystrophy)` כ `(INAD)` fכ sכt. Pan ɔl we dis nem kin tan lɛk se i de mek pɔsin fred smɔl, i rili impɔtant fɔ no bɔt am. Bikɔs if yu notis ɛni chenj pan yu smɔl pikin, yu fɔ go to dɔktɔ wantɛm wantɛm.

Wetin na `(Infantil Nyuroaksonal Distrofi - INAD)`? Lɛ wi ɔndastand am simpul wan!

Fɔ tɔk am simpul wan, `(INAD)` na wan sik we nɔ kin bɔku, we kin kɔmɔt frɔm wi mama ɛn papa we kin afɛkt wi nervɔs sistɛm. wetin de apin insay dis na we wan kayn fεt, we dεn kכl `(lipids),` de bil insay di nεv sεl dεm we nכ nid. Tink bɔt am lɛk di kebul dɛn we de kɛr mɛsej dɛn na wi bɔdi. We fat de bɔku na dɛn kebul ya, dɛn mɛsej dɛn de nɔ de travul fayn.

Wetin kin apin da tɛm de?

Dis kin mek smɔl smɔl di pikin nɔ ebul fɔ kɔntrol in mɔsul dɛn igen , i nɔ kin si am igen , i nɔ kin izi fɔ tɔk , ɛn i nɔ kin ebul fɔ divɛlɔp in maynd fayn . Bɔku tɛm, dɛn sik ya kin apin we dɛn smɔl (bifo i ol 3 ia). Bɔt sɔntɛnde, dɛn sayn ya kin apin smɔl leta, dat na we dɛn yɔŋ.

dis na sik we de insay di kategori we se `(lipid storage disorder).` dat na, wan kכndyushכn we de apin bikoz fכ di stכrej fεt na di bכdi. כnכfכs, stil nכ kכmplit mεkshכn de fכ dis sik we de mek yu layf de pan denja we dεn kכl `(INAD).`

Wetin na `(Lipid stɔrɔj ​​dizayd)`?

Lipid stכrej dizכrd na wan grup fכ sik dεm we de insay di kεtכgrεf fכ inhεrit mεtabolik dizכrd. Fɔ tɔk am simpul wan, dɛn kin afɛkt wi mɛtabolism , we na di we aw wi kin chenj di it we wi de it to ɛnaji ɛn pul dɔti tin dɛn na wi bɔdi.

di lipid dεm na fεt tin dεm we de insay wi sεl dεm, spεshal wan na di maylin sεt we de kכba di nεv dεm na di bren εn spεnal kכd. Dɛn rili impɔtant fɔ wi nervɔs sistɛm . Pipul wae gɛt lipid stɔrɔj ​​disɔda kin gɛt dɛn lipid ya we dɛn kin kip na dɛn bɔdi instead fɔ yuz dɛn fayn fayn wan.

Lipid stכrej dizכrd lεk INAD na sik dεm we de go bifo . Dat min se as di lipid dɛn de gɛda na di bɔdi, di sayn dɛn kin wɔs smɔl smɔl.

Wetin di nem "Infantile Neuroaxonal Dystrophy" min?

If yu ɔndastand di wɔd dɛn we de na dis nem, i go ɛp fɔ mek di sik klia smɔl mɔ:

• Infantil: `(INAD)` na wan kכndyushכn we de we dεn bכn am (`(congenital disease)`). di simptom dεm kin apin we dεn bεlε, bifo i rich 3 ia.
• Nyuroaksonal: Dis sik de afekt di aksכn dεm na di nεv sεl dεm. dis aksכn dεm de kכri mεsej frכm di bren to כda pat dεm na di bכdi.
• Distrofi: ``Dystrophy'' na di mεdikal tεm fכ di wik εn west di tisu dεm, כgan dεm, εn mכsul dεm sכmtεm.

Wetin na ɔda nem fɔ `(INAD)`?

Sɔm dɔktɔ dɛn kin kɔl dis sik bak "Seitelberger's disease," afta di dɔktɔ we bin fɔs tɔk bɔt dis sik insay di 1950 dɛm. dεn kin kכl am bak `(PLA2G6-asכsiet nyurodijεnεreshכn)` כ `(PLAN)`.

Wetin na di men kayn `(INAD)`?

Infantile neuroaxonal dystrophy na di fכm we dεn kכmכn f כ dis sik. Dɔktɔ dɛn kin kɔl am bak di klas we fɔ INAD. As di nem sho, di sayn dɛm kin bigin we dɛn smɔl.

כda kayn de, we dεn kכl `(atypical INAD (aNAD))`. If na so i bi, di sayn dɛm kin apia arawnd di ej fɔ 4 ia, sɔmtɛm ivin leta, we i yɔŋ. Dɛn pikin ya kin gɛt dilɛys fɔ tɔk , ɔ kin tan lɛk se dɛn gɛt `(ɔtizm spɛktrum disɔda)`. Dis kayn sik nɔ kin bɔku.

Aw kɔmɔn tin na `(INAD)`?

Dis na sik we nɔ kin bɔku , ɛn sɔntɛm i kin afɛkt wan pan ɛvri ɔndrɛd to tu milyɔn pikin dɛn.

Wetin na di rizin we mek dɛn mek `(INAD)`?

pikin dεm we gεt `(INAD)` kin gεt chenj (mכtεshכn) na di jin `(PLA2G6)` frכm dεn tu mama εn papa. dis jin de εp fכ mek wan `(εnzym)` (wan kayn protin) we dεn kכl `(A2 fכsfolaypas)`. dis `(enzyme)` de brok dכn wan kayn fεt we dεn kכl `(phospholipids)`. we dεn du di fεt mεtabolism fayn fayn wan, di nεv sεl dεm de hεlty.

pan pikin dεm we gεt `(INAD)`, dis כltεr `(PLA2G6)` jin de impεr di prodakshכn εn fכnshכn fכ dat `(εnzym)`. afta dat, sfεri sכbstans dεm we dεn kכl `(sfεroyd bכdi dεm)` de bigin fכ dכpכsit insay di nεv dεm. Bɔku tɛm, dɛn tin ya kin de na di nɛv ɛnd dɛn we kin kɔnɛkt to di yay, di mɔsul dɛn, ɛn di skin. Dɔn bak, dɛn kin put ayɛn na di bren.

Udat de pan risk fɔ gɛt `(INAD)`?

di infantil nyuroaksכnal distrofi na כtosom rεsεsiv dizכrd. dis min se fכ mek pikin gεt di sik, in mama εn papa tu fכ gεt wan kכpi fכ di mutated PLA2G6 jin. Dɔn di pikin in mama ɛn papa kin gɛt di jin we dɔn chenj, bɔt dɛn nɔ go gɛt di sik.

Imajin, if mama ɛn papa ɔl tu gɛt dis mutant jin, ɛni pikin we dɛn bɔn gɛt dis prɔbabiliti:

>

* 1 pan ɛvri 4 chans de fɔ gɛt wɛlbɔdi pikin we nɔ gɛt di mutant jin.

* Na 1 pan 4 chans de fɔ bɔn wit di sik `(INAD)`.

* 1 pan ɛvri 2 chans de fɔ mek yu nɔ gɛt di sik, bɔt na pɔsin we de kɛr di jin we dɔn chenj.

Wetin na di sayn dɛm fɔ `(INAD)` sik?

insay di klas INAD kes, yu pikin kin divεlכp nכmal wan frכm di fכs 6 mכnt to lεk 3 ia.. Dat min se tin dɛn lɛk fɔ sidɔm, kray, waka, ɛn tɔk kin bigin nɔmal wan. Dɔn, smɔl smɔl, dɛn tin ya we dɛn dɔn lan kin bigin fɔ lɔs . Bɔku tɛm, di rizin fɔ dis na we di mɔsul dɛn de west. as a rizulכt, dεn de si di mכsul dεm we wik (`(hypotonia)`), we min se di bכdi de sכmtεm sכmtεm, spεshal wan na di trכnk εria. as di sik de go bifo, di mכsul dεm stiff (`(spasticity)`) kin apin.

Pikin dɛn we gɛt INAD kin gɛt sɔm sayn dɛn bak lɛk:

• `(Ataxia)` (prɔblɛm wit balans ɛn kɔdineshɔn fɔ muvmɛnt)
• I nɔ kin izi fɔ swɛla (dysphagia) .
• I nɔ de yɛri fayn
• Nɔ ebul fɔ ol di ed stret, nɔ ebul fɔ kɔntrol di ed
• Lɔs mɛmori ɛn intɛlijɛns, wae kin go bifo to dis maynia sik
• Di sik dɛn we kin mek pɔsin sik
• I nɔ izi fɔ tɔk bikɔs di mɔsul dɛn wik (dysarthria) .
• Ɔda prɔblɛm dɛn we kin mit yu yay, lɛk strabismus, yay we de twitch (nystagmus), ɔ we yu nɔ de si fayn

di pikin dεm we gεt `(INAD)` kin gεt sכm spεshal fes fכm dεm bak we dεn kin si we dεn bכn dεm:

• Ay dɛn we krɔs (strabismus) .
• Big big yes dɛn we nɔ gɛt bɛtɛ sɛt
• Fɔrɛst we de kɔmɔt na do
• Wan smɔl nos ɔ chin

Aw dɛn kin no di sik we dɛn kɔl `(INAD)`?

If pɔsin na yu famili gɛt dis sik, we dɛn du tɛst bifo di pikin bɔn, i kin no if di pikin dɔn gɛt dis muteshon. wan tεst we dεn kכl Chorionic Villus Sampling (CVS) de tek sεl dεm frכm di plasεnta εn chεk fכ di jin mכtεshכn.

Dis na di tɛst dɛn we dɛn kin du pan bebi, pikin, ɛn big pipul dɛn:

• wan bכdi tεst we de luk fכ di mutated `(PLA2G6)` jin. dis jεnεtik tεst kin no 8 pan 10 pikin dεm we gεt `(INAD).`
• wan ``Electroencephalogram - EEG`` tεst fכ luk fכ seizure.
• Wan MRI skan fɔ si chenj dɛn na di bren.
• Tεst dεm lεk εlektromayogram (EMG) we de mכsu di nεv aktiviti dεm.
• wan tεst (`(bayopsi)`) we de tek sכm sכm pat pan di skin כ nεv. dis dεn de yuz fכ chεk fכ di prεsεns fכ `(sfεroyd bכdi dεm)` insay di nεv aksכn dεm (`(akson)`).

Aw dɛn kin trit Infantil Nyuroaxonal Dystrophy (INAD)?

I sɔri fɔ no se, no mɛrɛsin nɔ de fɔ Infantile Neuroaxonal Dystrophy. Di tritmɛnt dɛm wae de naw kin pe atɛnshɔn fɔ kɔntrol di sik dɛm ɛn ɛp di pikin fɔ fil fayn as i pɔsibul. Dɛn tritmɛnt ya na:

• Di tin dɛn we de mek pɔsin nɔ gɛt kɔnvuls
• Wan tiub fɔ it (intɛral nyutrishɔn) .
• Mɛrɛsin fɔ rilaks di mɔsul dɛn we dɔn tɛns
• Di tin dɛn we dɛn kin yuz fɔ mek pɔsin fil pen
• Fizik tɛrapi ɛn kɔrɛkt pozishɔn fɔ sɔpɔt di pikin in ed ɛn wik mɔsul dɛm
• Di tin dɛn we de mek pɔsin fil fayn

Wetin na di nyu tritmɛnt dɛm we dɛn dɔn mek fɔ `(INAD)`?

Di wan dɛn we sabi bɔt mɛrɛsin de du risach ɛn klinik trial fɔ fɛn nyu we fɔ stɔp dis sik ɛn sɔntɛm fɔ mɛn am. Di tritmɛnt dɛm we dɛn de divɛlɔp naw na:

• εnzym riplesmεnt tεrapi (we de gi di εnzym we nכ de na do) .
• `(Jin tɛrapi)` (Jin tɛrapi)

Dɛn kin ebul fɔ protɛkt di sik `(INAD)`?

If yu ɛn yu patna ɔl tu gɛt di jin muteshon we de mek INAD (dat na if una ɔl tu gɛt di wan dɛn we gɛt INAD), yu kin mit wit wan jenɛtik kɔlnɔ fɔ tɔk bɔt aw fɔ mek i nɔ pas to yu pikin dɛn. Wan tin we dɛn kin du na we dɛn kɔl Preimplantation Genetic Diagnosis (PGD). insay dis, dεn de pik di εmbrayo dεm we dεn mek tru IVF (in vitro fεtilayzεshכn) εn put dεm insay di uterus.

Wetin na di fiuja prɔspɛkt fɔ pikin we gɛt `(INAD)`?

Bebi we gɛt `(INAD)` kin tan lɛk pikin we rili de ansa ɛn we de wach insay di fɔs sɔm ia. Bɔt as di sik de go bifo, yu go notis se di pikin in yay, i de tɔk, di we aw i de muv, ɛn di ebul fɔ tɔk to ɔda pipul dɛn de go dɔŋ smɔl smɔl. Di sik kin afɛkt di we aw pɔsin de blo bak . dis kin mek yu gεt infεkshכn dεm na di rεspiretכri lεk `(nyumonia)`. Mɔs pikin dɛn we gɛt `(INAD)` kin day bifo dɛn rich 10 ia .

Pikin dɛm we gɛt di kayn we we nɔ kin izi fɔ du (aNAD) kin bigin fɔ gɛt di sik bitwin 7 ɛn 12. Pan ɔl we dɛn kin liv lɔng pas pikin dɛm we gɛt di kayn we aw dɛn kin liv (INAD), dɛn layf kin shɔt bak.

Fɔ kia fɔ pikin we gɛt dis kayn siriɔs sik kin mek i gɛt prɔblɛm wit in maynd ɛn in bɔdi . Yu kin gɛt prɔblɛm bak lɛk strɛs ɛn pwɛl hat. So, mek shɔ se yu aks fɔ ɛp, mek tɛm fɔ yusɛf, ɛn tray fɔ gɛt gladi at pan di smɔl smɔl tin dɛn we de mek yu gladi wit yu famili .

Ustɛm yu fɔ go to dɔktɔ?

Si dɔktɔ if yu pikin gɛt ɛni wan pan dɛn sayn ya:

• Prɔblɛm wit balans, muvmɛnt, ɔ waka
• I nɔ kin izi fɔ yu fɔ blo
• Di mɔsul dɛn we wik ɔ we de shek shek
• I nɔ izi fɔ tɔk ɔ swɛla
• Prɔblɛm fɔ si ɔ fɔ yɛri

Us kwɛstyɔn dɛn yu fɔ aks yu dɔktɔ?

I fayn fɔ aks yu dɔktɔ bɔt tin dɛn lɛk:

• Us kayn `(INAD)` mi pikin gɛt?
• Us tritmɛnt dɛn kin ɛp?
• Wetin wi kin du na os fɔ ridyus di sayn dɛm?
• Udat na di dɔktɔ dɛn we wi fɔ mit wit?
• Yu tink se dɛn fɔ tɛst di ɔda pipul dɛn na mi famili fɔ si if dɛn gɛt dis chenj na mi jɛnɛtiks?
• Us prɔblɛm dɛn a fɔ wach fɔ?

Fɔ dɔn, wetin fɔ mɛmba (Take-Home Message) .

Fɔ no se yu pikin gɛt sik we nɔ go mɛn lɛk Infantile Neuroaxonal Dystrophy (INAD) na tin we kin chenj in layf. Dis lipid stɔrɔj ​​disɔda kin afɛkt yu pikin in ebul fɔ muv, si, it, ɛn tɔk. Pan ɔl we yu kin ebul fɔ kɔntrol di sik dɛn ɛn mek yu pikin fil fayn, no mɛrɛsin stil nɔ de . Bɔt dɛn de du nyu risach ɛn klinik trial dɛn . If yu gɛt di muteshon wae de kɔz INAD (a carrier), tɔk to yu dɔktɔ bɔt aw fɔ ridyus di risk fɔ pas am to di fiuja jɛnɛreshɔn dɛm. Nɔ ɛva go am yu wan, gɛt di ɛp we yu nid .

` INAD, infantil nyuroaksonal distrofi, lipid stכrej dizכrd, jεnεtik dizכrd, rare sik, pikin hεlth, nyurodijεnεreshכn, jεnεtik sik dεm, rare sik dεm, pikin hεlth