Ðe dɔléle sia si mebɔ o la le viwò suea ŋua? (Infantile Neuroaxonal Dystrophy - INAD) Mina míanya esia!

Egbea míele nu ƒom tso nɔnɔme aɖe si mebɔ o si ŋu dzila geɖe mese kpɔ o, gake wògblẽa nu le ɖeviwo ŋu. Woyɔa esia be `(Infantile Neuroaxonal Dystrophy)` alo `(INAD)` kpuie. Togbɔ be ŋkɔ sia aɖi vɔvɔ̃ vie hã la, ele vevie ŋutɔ be nànya nu tso eŋu. Elabena ne ède dzesi tɔtrɔ aɖewo le viwò suea ŋu la, ele be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo enumake.

Nukae nye `(Vidzĩ ƒe Ahɔhɔ̃mekawo ƒe Dɔléle - INAD)`? Mina míase egɔme bɔbɔe!

Kpuie ko la, `(INAD)` nye dɔléle si mebɔ kura o, si tso domenyiŋusẽfianu me, si gblẽa nu le míaƒe lãmekawo ŋu. Nusi dzɔna le esia me enye be ami ƒomevi aɖe, si woyɔna be `(lipids),` ƒoa ƒu ɖe lãmekawo me dzodzro. Bu eŋu abe ka siwo tsɔa gbedasiwo le míaƒe ŋutilã me ene. Ne amiwo ƒo ƒu ɖe ka siawo me la, gbedasi mawo mezɔna nyuie o.

Nukae dzɔna ɣemaɣi?

Esia wɔnɛ vivivi la , ɖevia megate ŋu ɖua lãmekawo dzi o , megate ŋu kpɔa nu o , nuƒoƒo sesẽna nɛ , eye wògblẽa nu le eƒe susu ƒe tsitsi ŋu . Zi geɖe la, dzesi siawo dzena le vidzĩme (hafi woaxɔ ƒe 3). Gake ɣeaɖewoɣi la, dzesi siawo te ŋu dzena emegbe vie, si fia be le ƒewuiwo me.

Esia nye dɔléle si le hatsotso si nye `(lipid storage disorder) me.` Eyae nye nɔnɔme si dzɔna le amiwo ƒe dzadzraɖo ɖe ŋutilã me ta. Nublanuitɔe la, womekpɔ atike blibo aɖeke na dɔléle sia si ate ŋu ade ame ƒe agbe afɔku me si woyɔna be `(INAD).` o

Nukae nye `(Lipid storage disorder)`?

Lipid storage disorders nye dɔlélewo ƒe hatsotso aɖe si le lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxi siwo ƒe dome wonyi ƒe hatsotso me. Kpuie ko la, wokpɔa ŋusẽ ɖe míaƒe lãmenugbagbeviwo ƒe dɔwɔwɔ dzi , si nye nusi dzi míetona trɔa nuɖuɖu siwo míeɖuna wòzua ŋusẽ eye míeɖea gbeɖuɖɔ ɖa le míaƒe ŋutilã me.

Ami nye ami siwo le míaƒe lãmenugbagbeviwo me, vevietɔ le myelin-kplu si tsyɔa ahɔhɔ̃meka siwo le ahɔhɔ̃a kple aklã me la me. Wole vevie ŋutɔ na míaƒe lãmekawo . Amesiwo ŋu ami dzraɖoƒe ƒe kuxi le la naa ami siawo dzrana ɖo ɖe woƒe ŋutilã me le esi teƒe be woazã wo nyuie.

Lãmetsiŋusẽ ƒe nudzraɖoƒe ƒe kuxiwo abe INAD ene nye dɔléle siwo yia edzi ɖaa . Eyae nye be, ne amiwo le ƒoƒom ɖe ŋutilãa me la, dzesiawo gagblẽna ɖe edzi vivivi.

Nukae ŋkɔ "Infantile Neuroaxonal Dystrophy" fia?

Nya siwo le ŋkɔ sia me gɔmesese akpe ɖe eŋu be dɔlélea me nakɔ vie wu:

• Vidzĩ: `(INAD)` nye nɔnɔme si nɔa anyi le vidzidzi me (`(dzidzime dɔléle)`). Zi geɖe la, dzesiawo dzena le vidzĩme, hafi woaxɔ ƒe 3.
• Neuroaxonal: Dɔléle sia gblẽa nu le lãmekawo ƒe lãmenugbagbeviwo ƒe axonwo ŋu. Axon siawo tsɔa gbedasiwo tso ahɔhɔ̃a me yia ŋutilã ƒe akpa bubuwo.
• Dystrophy: ``Dystrophy'' nye atikewɔwɔ me nya si wozãna na lãmekawo, ŋutinuwo, kple lãmekawo ƒe gbɔdzɔgbɔdzɔ vivivi kple woƒe gbegblẽ.

Nukae nye ŋkɔ bubuwo na `(INAD)`?

Ðɔkta aɖewo hã yɔa dɔléle sia be "Seitelberger ƒe dɔléle," le ɖɔkta si ƒo nu tso dɔlélea ŋu zi gbãtɔ le ƒe 1950-awo me la ƒe ŋkɔ me. Woateŋu ayɔe hã be `(PLA2G6-si do ƒome kple ahɔhɔ̃mekawo ƒe dɔmawɔmawɔ nyuie)` alo `(PLAN)`.

Nukae nye `(INAD)` ƒe ƒomevi veviwo?

Vidzĩwo ƒe ahɔhɔ̃mekawo ƒe dɔmawɔmawɔ nyuie ye nye dɔléle sia ƒe ƒomevi si bɔ wu . Ðɔktawo hã yɔe be INAD ƒe ƒomevi si wonya nyuie. Abe alesi ŋkɔa ɖee fia ene la, dzesiawo dzea egɔme tso vidzĩme.

Ƒomevi bubu aɖe hã li, si woyɔna be `(atypical INAD (aNAD))`. Le go sia me la, dzesiawo dzena le ƒe 4 lɔƒo, ɣeaɖewoɣi emegbe gɔ̃ hã, le sɔhɛmenɔɣi. Ðevi siawo ate ŋu anye be nuƒoƒo tsi megbe , alo adze abe `(autism spectrum disorder)` le wo ŋu ene. Dɔléle sia ƒomevi mebɔ boo o.

Aleke gbegbee `(INAD)` bɔe?

Esia nye dɔléle si mebɔ kura o , eye ɖewohĩ edzea ɖevi ɖeka le akpe alafa ɖeka va ɖo miliɔn eve ɖesiaɖe me.

Nukae nye susu si ta woɖo `(INAD)` ɖo?

Ðevi siwo ŋu `(INAD)` le nyia tɔtrɔ (trɔtrɔ) le domenyiŋusẽfianu `(PLA2G6)` me tso dzila eveawo siaa gbɔ. Domenyiŋusẽfianu sia kpena ɖe ame ŋu be woawɔ `(enzyme)` (protein ƒomevi aɖe) si woyɔna be `(A2 phospholipase)`. `(enzyme)` sia gblẽa ami ƒomevi aɖe si woyɔna be `(phospholipids)` me. Ne wowɔ ami ƒe asitɔtrɔ nyuie la, lãmekawo ƒe lãmenugbagbeviwo nɔa lãmesẽ me.

Le ɖevi siwo ŋu `(INAD)` le gome la, domenyiŋusẽfianu sia si wotrɔ `(PLA2G6)` gblẽa nu le `(enzyme)` ma ƒe wɔwɔ kple dɔwɔwɔ ŋu. Emegbe la, nusiwo le dzogoe ene me siwo woyɔna be `(spheroid bodies)` dzea ƒoƒo ɖe lãmekawo me gɔme. Zi geɖe la, nusiawo nɔa lãmeka siwo do ƒome kple ŋkuwo, lãmekawo, kple ŋutigbalẽa me. Azɔ hã, gayibɔ ate ŋu ade ahɔhɔ̃a me.

Amekae le afɔku me be wòaxɔ `(INAD)`?

Vidzĩ ƒe ahɔhɔ̃mekawo ƒe dɔmawɔmawɔ nyuie nye autosomal recessive disorder. Esia fia be hafi ɖevi nate ŋu axɔ dɔlélea la, ele be dzila evea siaa nanyi PLA2G6 domenyiŋusẽfianu si wogbugbɔ trɔ la ƒe kɔpi dome. Ekema ɖevia dzilawo nyea domenyiŋusẽfianu si wogbugbɔ trɔ la tsɔlawo , gake womaxɔ dɔlélea o.

Bu eŋu kpɔ, ne dzila evea siaa nye domenyiŋusẽfianu sia si trɔ la, vi ɖesiaɖe si wodzi la ƒe kakaɖedzi si gbɔna:

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* Mɔnukpɔkpɔ li be ame 1 le 4 ɖesiaɖe me nadzi vi si le lãmesẽ me evɔ womanyi domenyiŋusẽfianu si trɔ la ƒe dome o.

* Mɔnukpɔkpɔ li be woadzi ame 1 le 4 ɖesiaɖe me kple dɔléle si nye `(INAD)`.

* Mɔnukpɔkpɔ li be dɔlélea manɔ ame 1 le 2 ɖesiaɖe me o, ke boŋ domenyiŋusẽfianu si trɔ la tsɔlae.

Nukae nye `(INAD)` dɔléle ƒe dzesiwo?

Le INAD ƒe nya si wonya nyuie me la, viwòa ate ŋu atsi nyuie tso ɣleti 6 gbãtɔwo dzi va ɖo abe ƒe 3 ene.. Eyae nye be nuwo abe anyinɔƒe, tsatsam, azɔlizɔzɔ, kple nuƒoƒo dzea egɔme le mɔ si sɔ nu. Emegbe vivivi la, aɖaŋu siawo siwo wosrɔ̃ la dzea bubu gɔme . Zi geɖe la, nusi gbɔ esia tsonae nye lãmekawo ƒe gbegblẽ. Esia wɔnɛ be wokpɔa lãmekawo ƒe gbɔdzɔgbɔdzɔ (`(hypotonia)`), si gɔmee nye ŋutilã si le ƒuƒlu, vevietɔ le akɔta ƒe akpa si. Ne dɔlélea le ŋgɔ yim la, lãmekawo ƒe sesẽ (`(spasticity)`) ate ŋu adzɔ.

Ðevi siwo ŋu INAD le hã ate ŋu akpɔ dzesiwo abe:

• `(Ataxia)` (kuxi siwo le dadasɔ kple ʋuʋu ƒe ɖoɖowɔwɔ ɖekae me)
• Nu mimi sesẽ (dysphagia) .
• Tosese ƒe kuxi
• Ta la léle ɖe te dzɔdzɔe ƒe ŋutete manɔamesi, ta dzi ɖuɖu ƒe ŋutete manɔamesi
• Ŋkuɖoɖonudzi kple nunya ƒe bu, si ate ŋu ayi ŋgɔ ava zu tagbɔdɔ
• Alɔ̃madɔmadɔ
• Nuƒoƒo sesẽ le lãmekawo ƒe gbɔdzɔgbɔdzɔ (dysarthria) ta .
• Ŋku ƒe kuxi bubuwo, abe ŋku ƒe ʋuʋu, ŋku ƒe ʋuʋu (nystagmus), alo ŋku ƒe ʋuʋu ene

Vidzĩ siwo ŋu `(INAD)` le hã ate ŋu akpɔ mo ƒe nɔnɔme tɔxɛ aɖewo siwo dzena le wo dzidzi me:

• Ŋku siwo wotso (strabismus) .
• To gã siwo mebɔbɔ o
• Ŋgonu si do ɖe gota
• No alo asike sue aɖe

Aleke wokpɔa `(INAD)` dɔlélea?

Ne dɔléle sia le wò ƒomea me la, dodokpɔ si wowɔ do ŋgɔ na vidzidzi ate ŋu akpɔe ɖa be vidzĩa nyi tɔtrɔ sia ƒe dome hã. Dodokpɔ aɖe si woyɔna be Chorionic Villus Sampling (CVS) xɔa lãmenugbagbeviwo le vidzidɔa me eye wòléa ŋku ɖe domenyiŋusẽfianu ƒe tɔtrɔ ŋu hã.

Esiawoe nye dodokpɔ siwo wowɔna le vidzĩwo, ɖeviwo, kple ame tsitsiwo ŋu:

• Ʋudodokpɔ si dia domenyiŋusẽfianu si trɔ `(PLA2G6)`. Domenyiŋusẽ ƒe dodokpɔ sia ateŋu ade dzesi ɖevi 8 le 10 ɖesiaɖe me si ŋu `(INAD).` le
• ``Electroencephalogram - EEG`` dodokpɔ aɖe be woatsɔ adi alɔ̃dɔdɔ.
• MRI scan wɔwɔ be woakpɔ tɔtrɔ siwo le ahɔhɔ̃a me.
• Dodokpɔwo abe electromyogram (EMG) si dzidzea lãmekawo ƒe dɔwɔwɔ ene.
• Dodokpɔ (`(biopsy)`) si xɔa ŋutigbalẽ alo lãmeka sue aɖe. Wozãa esia tsɔ léa ŋku ɖe `(spheroid bodies)` ƒe anyinɔnɔ le lãmekawo ƒe axons (`(axons)`) me hã.

Aleke wodaa Vidzĩwo ƒe Ahɔhɔ̃mekawo ƒe Dɔléle (INAD)e?

Nublanuitɔe la, atike aɖeke meli na Vidzĩwo ƒe Ahɔhɔ̃mekawo ƒe Dɔléle o. Fifia ƒe atikewɔwɔwo ku ɖe dzesiwo dzi ɖuɖu kple kpekpeɖeŋu nana ɖevia be wòaɖe dzi ɖi alesi wòanya wɔe ŋu. Dɔdamɔnu siawo dometɔ aɖewoe nye:

• Atike siwo tsia ʋuʋudedi nu
• Nuɖuɖu ƒe mɔ̃ (nunyiame si wozãna le dɔgboa me) .
• Atike si woatsɔ aɖe lãmeka siwo te ɖe wo nɔewo ŋu dzi akpɔtɔ
• Vevesesenutsitikewo
• Lãmesẽfefewɔwɔ kple eƒe nɔnɔme nyuitɔ be wòalé ɖevia ƒe ta kple lãmeka siwo gbɔdzɔ la ɖe te
• Atike siwo naa ame ƒe dzi dzea eme

Nukae nye atike yeye siwo woto vɛ na `(INAD)`?

Atikeŋutinunyalawo le numekuku kple dɔdamɔnu dodokpɔwo wɔm be yewoadi mɔ yeye siwo dzi woato atɔ te dɔléle sia ƒe kaka eye ɖewohĩ woadae. Atikewɔwɔ siwo wole wɔwɔm fifia dometɔ aɖewoe nye:

• Enzyme ɖɔliɖɔli ƒe atikewɔwɔ (ana enzyme si mehiã o la nana le gota) .
• `(Domenyiŋusẽfianu ƒe atikewɔwɔ)` (Domenyiŋusẽfianu ƒe atikewɔwɔ) .

Ðe woate ŋu axe mɔ ɖe dɔléle `(INAD)` nua?

Ne domenyiŋusẽfianu ƒe tɔtrɔ si hea INAD vɛ (si fia be ne mi ame evea siaa mienye amesiwo tsɔa INAD) le mia kple wò zɔhɛa siaa ŋu la, àte ŋu ado go kple domenyiŋusẽfianu ŋuti aɖaŋuɖola aɖe aƒo nu tso mɔ siwo dzi nàto axe mɔ ɖe enu be wòagakaka viwòwo o ŋu. Woyɔa tiatia ɖeka be Domenyiŋusẽfianu Ŋuti Numekuku Do Ŋgɔ Na Amewo Doa Ame Ŋu (PGD). Le esia me la, wotiaa fugboe siwo wowɔ to IVF (in vitro fertilization) dzi hedea wo vidzidɔa me.

Nukae nye etsɔme mɔkpɔkpɔ na ɖevi si ŋu `(INAD)` le?

Vidzĩ si ŋu `(INAD)` le ate ŋu adze abe ɖevi si ɖoa nya ŋu ŋutɔ eye wònɔa ŋudzɔ le ƒe ʋee gbãtɔawo me ene. Gake ne dɔlélea le sesẽm ɖe edzi la, àte ŋu ade dzesii be ɖevia ƒe nukpɔkpɔ, nuƒoƒo, eƒe dɔwɔwɔ ƒe ŋutete, kple ŋutete be wòawɔ nu kple ame bubuwo dzi ɖena kpɔtɔna vivivi. Dɔlélea ate ŋu agblẽ nu le gbɔgbɔtsixe ƒe dɔwɔwɔ hã ŋu . Esia ateŋu ahe gbɔgbɔtsixe ƒe dɔlélewo abe `(aklãdɔ)` vɛ. Ðevi siwo ŋu `(INAD)` le ƒe akpa gãtɔ kuna hafi xɔa ƒe 10 .

Ðevi siwo ŋu dɔlélea ƒe ƒomevi si mebɔ o (aNAD) dzea dzesiwo kpɔkpɔ gɔme tso ƒe 7 va ɖo ƒe 12. Togbɔ be wonɔa agbe didi wu ɖevi siwo ŋu ƒomevi si bɔ (INAD) hã la, woƒe agbenɔƒe hã nɔa kpuie.

Ðevi si ŋu dɔléle sesẽ sia tɔgbe le dzi kpɔkpɔ bia nu geɖe le susu kple ŋutilã siaa gome . Afɔku hã le eme be kuxiwo abe nuteɖeamedzi kple blanuiléle ene ate ŋu adze dziwò. Eyata kpɔ egbɔ be yebia kpekpeɖeŋu, di ɣeyiɣi na ɖokuiwò, eye nàdze agbagba akpɔ dzidzɔ le nu suesuesue siwo hea dzidzɔ vɛ na wò kple wò ƒomea me .

Ɣekaɣie wòle be nàkpɔ ɖɔkta?

Kpɔ ɖɔkta ne dzesi siawo dometɔ aɖe le viwòa ŋu:

• Kuxi siwo le dadasɔ, ʋuʋu, alo azɔlizɔzɔ me
• Yagbɔgbɔ sesẽ
• Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ alo woƒe ʋuʋu
• Nuƒoƒo alo nu mimi sesẽ
• Nukpɔkpɔ alo tosese ƒe kuxiwo

Nya kawoe wòle be nàbia wò ɖɔkta?

Anyo be nàbia wò ɖɔkta tso nuwo abe:

• `(INAD)` ka ƒomevie le vinye ŋu?
• Dɔdamɔnu kawoe ate ŋu akpe ɖe ŋuwò?
• Nukae míate ŋu awɔ le aƒeme be wòaɖe dɔlélea ƒe dzesiwo dzi akpɔtɔ?
• Amekawoe nye atikewɔla bibi siwo wòle be míado go kplii?
• Ðe wòle be woado nye ƒomea me tɔ mamlɛawo kpɔ be domenyiŋusẽfianu ƒe tɔtrɔ sia hã?
• Kuxi kawo ŋue wòle be makpɔ nyuie le?

Mlɔeba la, nusi dzi nàɖo ŋkui (Take-Home Message) .

Ne èva nya be dɔléle aɖe si womate ŋu ada o abe Infantile Neuroaxonal Dystrophy (INAD) ene le viwòa ŋu la, enye nudzɔdzɔ si trɔa ame ƒe agbenɔnɔ. Lãmetsiŋusẽ ƒe dɔmawɔmawɔ nyuie sia gblẽa nu le viwòa ƒe ŋutete be wòaʋuʋu, akpɔ nu, aɖu nu, ahaƒo nu ŋu. Togbɔ be woate ŋu akpɔ dzesiawo gbɔ eye woate ŋu ana viwòa navo hã la, atike aɖeke meli kokoko o . Gake wole numekuku yeyewo kple dɔdamɔnu dodokpɔwo wɔm . Ne nugbagbevi ƒe tɔtrɔ si hea INAD (si tsɔa dɔlékui) vɛ le ŋuwò la, ƒo nu kple wò ɖɔkta tso mɔ siwo dzi nàto aɖe afɔku si le etsɔtsɔ yi dzidzime siwo gbɔna me dzi akpɔtɔ ŋu. Mègayi edzi wò ɖeka gbeɖe o, xɔ kpekpeɖeŋu si nèhiã .

` INAD, infantile neuroaxonal dystrophy, lipid storage disorder, domenyiŋusẽfianu ƒe dɔléle, dɔléle si mebɔ o, ɖeviwo ƒe lãmesẽ, ahɔhɔ̃mekawo ƒe dɔmawɔmawɔ nyuie, domenyiŋusẽfianu ƒe dɔlélewo, dɔléle siwo mebɔ o, ɖeviwo ƒe lãmesẽ