So wo ba kumaa no wɔ saa yare a ɛntaa nsi yi? (Infantile Neuroaxonal Dystrophy - INAD) Momma yɛnhwɛ eyi yiye!

Ɛnnɛ yɛrebɛka tebea bi a ɛntaa nsi a awofo pii ntee ho asɛm da, nanso ɛka mmofra ho asɛm. Wɔfrɛ no `(Infantile Neuroaxonal Dystrophy)` anaa `(INAD)` tiawa. Ɛwom sɛ ebia edin yi bɛyɛ te sɛ nea ɛyɛ hu kakra de, nanso ɛho hia yiye sɛ wubehu ho asɛm. Efisɛ sɛ wuhu nsakrae bi wɔ wo ba ketewa no mu a, ɛsɛ sɛ wohwehwɛ aduruyɛfo afotu ntɛm ara.

Dɛn ne `(Nkokoaa Neuroaxonal Dystrophy - INAD)`? Momma yɛnte ase kɛkɛ!

Sɛ yɛbɛka no tiawa a, `(INAD)` yɛ yareɛ a ɛntaa nsi koraa, a ɛfiri awosuo mu a ɛka yɛn ntini nhyehyɛeɛ. Nea ɛba wɔ eyi mu ne sɛ srade bi, a wɔfrɛ no `(lipids),` boaboa ano wɔ ntini mu nkwammoaa mu a ɛho nhia. Susuw ho te sɛ nhama a ɛde nkrasɛm kɔ yɛn nipadua mu no. Sɛ srade boaboa ano wɔ saa nhama yi mu a, saa nkrasɛm no ntu kwan yiye.

Dɛn na ɛba saa bere no?

Eyi ma nkakrankakra abofra no hwere ne ntini ahorow so tumi , onhu ade yiye , ɛyɛ den ma no sɛ ɔbɛkasa , na n'adwene ntumi nyɛ adwuma yiye . Mpɛn pii no, saa sɛnkyerɛnne ahorow yi da adi wɔ nkokoaabere mu (ansa na wɔadi mfe 3). Nanso, ɛtɔ mmere bi a, saa sɛnkyerɛnne ahorow yi betumi ada adi akyiri kakra, kyerɛ sɛ, wɔ mmerantebere ne mmabaabere mu.

Eyi yɛ yare a ɛka `(lipid storage disorder) kuw no ho.` Ɛne sɛ, tebea a ɛba esiane srade a wɔkora so wɔ nipadua no mu nti. Awerɛhosɛm ne sɛ, ɛda so ara nni aduru a edi mũ a wɔde sa yare a ɛde nkwa to asiane mu a wɔfrɛ no `(INAD).`

Dɛn ne `(Lipid storage disorder)`?

Lipid storage disorders yɛ nyarewa kuw bi a ɛka nipadua mu nkwaadɔm mu ɔhaw ahorow a wonya fi awo mu no ho. Sɛ yɛbɛka no tiawa a, ɛka yɛn nipadua mu nneɛma a ɛsakra , ɔkwan a yɛfa so dan aduan a yedi no ma ɛbɛyɛ ahoɔden na yeyi nneɛma fĩ fi yɛn nipadua mu.

Lipids yɛ nneɛma a srade wom a ɛwɔ yɛn nkwammoaa mu, titiriw wɔ myelin a ɛkata ntini a ɛwɔ amemene ne akyi berɛmo mu no mu. Wɔho hia yɛn ntini ahorow no yiye . Nnipa a wɔwɔ srade a wɔkora so ho haw no de saa srade yi sie wɔn nipadua mu sen sɛ wɔde bedi dwuma yiye.

Lipid a wɔkora so ho haw ahorow te sɛ INAD yɛ nyarewa a ɛkɔ so nyarewa . Ɛne sɛ, bere a srade boaboa ano wɔ nipadua no mu no, yare no ho sɛnkyerɛnne no mu yɛ den nkakrankakra.

Dɛn na edin "Infantile Neuroaxonal Dystrophy" no kyerɛ?

Sɛ yɛte nsɛmfua a ɛwɔ din yi mu ase a, ɛbɛboa ma yare no mu ada hɔ kakra:

• Nkokoaa: `(INAD)` yɛ tebea a ɛwɔ hɔ wɔ awo mu (`(awo mu yare)`). Mpɛn pii no, sɛnkyerɛnne ahorow no da adi wɔ nkokoaabere mu, ansa na wɔadi mfe 3.
• Neuroaxonal: Saa yare yi ka ntini mu nkwammoaa no axons. Saa ntini ahorow yi de nkrasɛm fi amemene no mu kɔ nipadua no afã afoforo.
• Dystrophy: ``Dystrophy'' yɛ aduruyɛ mu asɛmfua a wɔde frɛ ntini, akwaa, ne ntini a ɛyɛ mmerɛw na ɛsɛe nkakrankakra.

Edin afoforo bɛn na wɔde frɛ `(INAD)`?

Nnuruyɛfo binom nso frɛ saa yare yi "Seitelberger yare," oduruyɛfo a odii kan kaa yare no ho asɛm wɔ 1950 mfe no mu no din. Wobetumi nso afrɛ no `(PLA2G6-associated neurodegeneration)` anaa `(PLAN)`.

Dɛn ne `(INAD)` ahorow titiriw?

Nkokoaa neuroaxonal dystrophy ne yare yi a abu so sen biara . Nnuruyɛfo nso frɛ no INAD a wɔtaa de di dwuma. Sɛnea edin no kyerɛ no, yare no ho sɛnkyerɛnne fi ase wɔ nkokoaabere mu.

Ɔkwan foforo nso wɔ hɔ, a wɔfrɛ no `(atypical INAD (aNAD))`. Wɔ eyi mu no, sɛnkyerɛnne ahorow no da adi bɛyɛ mfe 4, ɛtɔ mmere bi mpo a akyiri yi, wɔ mpanyin afe so. Saa mmofra yi betumi anya kasa a ɛkyɛ , anaasɛ ebetumi ayɛ te sɛ nea wɔwɔ `(autism spectrum disorder)`. Saa yare yi ntaa mma.

`(INAD)` abu so dɛn?

Eyi yɛ yare a ɛntaa nsi koraa , na ebia ɛka mmofra mpem ɔha kosi ɔpepem abien biara mu biako.

Dɛn ne nea enti a wɔhyehyɛɛ `(INAD)`?

Mmofra a wɔwɔ `(INAD)` nya nsakrae (mutation) wɔ gene `(PLA2G6)` mu fi awofo baanu no nyinaa hɔ. Saa awosu mu abɔde yi boa ma wɔyɛ `(enzyme)` (protein bi) a wɔfrɛ no `(A2 phospholipase)`. Saa `(enzyme)` yi bubu srade bi a wɔfrɛ no `(phospholipids)`. Sɛ wɔyɛ srade a ɛsakra no yiye a, ntini mu nkwammoaa no nya apɔwmuden.

Wɔ mmofra a wɔwɔ `(INAD)` mu no, saa `(PLA2G6)` awosu mu abɔde a wɔasesa yi sɛe saa `(enzyme)` no yɛ ne ne dwumadi. Afei, nneɛma a ɛyɛ kurukuruwa a wɔfrɛ no `(spheroid bodies)` fi ase kɔhyɛ ntini no mu. Mpɛn pii no, eyinom kɔto ntini ahorow a ɛka aniwa, ntini, ne honam ani no mu. Afei nso, wotumi de dade gu amemene no mu.

Hena na ɔwɔ asiane mu sɛ obenya `(INAD)`?

Nkokoaa neuroaxonal dystrophy yɛ autosomal recessive yare. Eyi kyerɛ sɛ sɛ abofra benya yare no a, ɛsɛ sɛ awofo baanu no nyinaa nya PLA2G6 awosu mu abɔde a wɔayɛ no foforo no bi fi awo mu. Afei abofra no awofo na wɔkura awosu mu nkwaadɔm a wɔayɛ no foforo no, nanso wɔrennya yare no.

Fa no sɛ, sɛ awofo baanu no nyinaa yɛ awosu mu abɔde a ɛsakra yi kurafo a, abofra biara a wɔwo no wɔ nea ebetumi aba sɛ edidi so yi:

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* Hokwan wɔ 4 biara mu 1 wɔ hɔ sɛ wobenya abofra a ɔwɔ apɔwmuden a onnya awosu mu abɔde a ɛsakra no.

* Hokwan wɔ 4 biara mu 1 wɔ hɔ sɛ wɔbɛwo yareɛ `(INAD)`.

* Hokwan wɔ 2 biara mu 1 sɛ obi rennya yare no, na mmom ɔyɛ awosu mu abɔde a wɔayɛ no foforo no kurafo.

Dɛn ne `(INAD)` yareɛ ho sɛnkyerɛnne?

Wɔ INAD asɛm a wɔtaa de di dwuma no mu no, wo ba no betumi anyin sɛnea ɛsɛ fi asram 6 a edi kan no kosi bɛyɛ mfe 3.. Ɛne sɛ, nneɛma te sɛ tra, ɔwea, nantew, ne nkɔmmɔbɔ fi ase sɛnea ɛsɛ. Afei, nkakrankakra, saa ahokokwaw a wɔasua yi fi ase yera . Mpɛn pii no, nea enti a ɛte saa ne ntini a wɔsɛe no. Ne saa nti, wohu ntini mu mmerɛwyɛ (`(hypotonia)`), a ɛkyerɛ nipadua a ɛyɛ mmerɛw, titiriw wɔ dua no fã. Bere a yare no kɔ so no, ntini a ɛyɛ den (`(spasticity)`) betumi aba.

Mmofra a wɔwɔ INAD nso betumi anya yare no ho sɛnkyerɛnne te sɛ:

• `(Ataxia)` (ɔhaw ahorow a ɛfa kari pɛ ne nkitahodi a ɛkɔ so wɔ kankyee mu) .
• Ɛyɛ den sɛ ɔbɛmene (dysphagia) .
• Aso a ɛyɛ mmerɛw
• Ti a wontumi nkura mu tẽẽ, nea wontumi nni ti no so
• Nkae ne nyansa a wɔhwere, a ebetumi akɔ anim akodu adwenemhaw
• Akisikuru a ɛma obi ho kyere no
• Ɔkasa a ɛyɛ den esiane ntini a ɛyɛ mmerɛw (dysarthria) nti .
• Aniwa ho haw afoforo te sɛ strabismus, aniwa a ɛtwetwe (nystagmus), anaa aniwa a ɛyera

Nkokoaa a wɔwɔ `(INAD)` nso betumi anya anim tebea pɔtee bi a wotumi hu wɔ awo mu:

• Aniwa a wɔatwa (strabismus) .
• Aso akɛse a ɛba fam
• Moma so a ɛpuepue
• Hwene anaa abɔso ketewaa bi

Ɔkwan bɛn so na wohu `(INAD)` yare no?

Sɛ obi wɔ w’abusua mu wɔ saa yare yi a, nhwehwɛmu a wɔyɛ ansa na wɔawo no betumi ahu sɛ akokoaa no anya saa nkwaadɔm mu nsakrae yi fi awo mu anaa. Sɔhwɛ bi a wɔfrɛ no Chorionic Villus Sampling (CVS) gye nkwammoaa fi awotwaa no mu na ɛhwɛ sɛ ebia awosu mu nkwaadɔm mu nsakrae no wɔ hɔ anaa.

Eyinom ne sɔhwɛ ahorow a wɔyɛ wɔ nkokoaa, mmofra, ne mpanyimfo ho:

• Mogya mu nhwehwɛmu a ɛhwehwɛ `(PLA2G6)` awosu mu abɔde a wɔayɛ no foforo. Saa awosu mu nhwehwɛmu yi tumi hu mmofra 10 biara mu 8 a wɔwɔ `(INAD).`
• ``Electroencephalogram - EEG`` sɔhwɛ a wɔde hwehwɛ akisikuru.
• MRI scan a wɔde hu nsakrae a aba amemene no mu.
• Sɔhwɛ ahorow te sɛ electromyogram (EMG) a ɛkyerɛ ntini ahorow no dwumadi.
• Biopsy yɛ nhwehwɛmu a wɔfa honam ani anaa ntini mu ntini ketewaa bi. Wɔyɛ eyi de hwɛ sɛ spheroid nipadua ahorow wɔ axons no mu anaa.

Ɔkwan bɛn so na wɔsa Infantile Neuroaxonal Dystrophy (INAD)?

Nea ɛyɛ awerɛhow no, wonni aduru biara a wɔde sa Infantile Neuroaxonal Dystrophy. Mprempren ayaresa ahorow no twe adwene si yare no ho sɛnkyerɛnne ahorow a wobedi so na wɔaboa abofra no ma ne ho atɔ no sɛnea obetumi biara so. Saa ayaresa ahorow yi bi ne:

• Nnuru a wɔde ko tia akisikuru
• Nsu a wɔde ma aduan (aduan a wɔde ma wɔ awotwaa mu) .
• Aduru a wɔde ma ntini a ayɛ den no dwo
• Nnuru a wɔde kum ɛyaw
• Apɔw-mu-teɛteɛ ne gyinabea a ɛteɛ a wɔde bɛboa abofra no ti ne ne ntini a ɛyɛ mmerɛw
• Nnuru a ɛma obi dwo

Dɛn ne ayaresa foforo a wɔayɛ ama `(INAD)`?

Aduruyɛ ho abenfo reyɛ nhwehwɛmu ne nnuruyɛ mu sɔhwɛ ahorow de ahwehwɛ akwan foforo a wɔbɛfa so asiw yare yi trɛw ano na ebia wɔasa. Ayaresa a wɔreyɛ mprempren no bi ne:

• Enzyme replacement therapy (a wɔde enzyme a enni hɔ no ma wɔ abɔnten) .
• `(Awosu mu nkwaadɔm mu ayaresa)` (Awosu mu nkwaadɔm mu ayaresa) .

So wobetumi asiw yare `(INAD)` ano?

Sɛ wo ne wo hokafo baanu nyinaa wɔ awosu mu nkwaadɔm mu nsakrae a ɛde INAD ba (kyerɛ sɛ, sɛ mo baanu nyinaa yɛ wɔn a wɔde INAD ba a) a, wubetumi ne awosu mu ɔfotufo bi ahyia abɔ akwan a wobɛfa so asiw ano sɛ ɛremfa nkɔ wo mma no ho nkɔmmɔ. Wɔfrɛ ɔkwan biako a wobetumi afa so Preimplantation Genetic Diagnosis (PGD). Wɔ eyi mu no, wɔpaw nkwaboaa a wɔnam IVF (in vitro fertilization) so yɛ no na wɔde hyɛ awotwaa no mu.

Dɛn ne daakye anidaso ma abofra a ɔwɔ `(INAD)`?

Akokoaa a ɔwɔ `(INAD)` betumi ayɛ te sɛ abofra a ɔyɛ n’ade yiye na ɔma n’ani da hɔ wɔ mfe kakraa a edi kan no mu. Nanso bere a yare no kɔ so no, ebia wubehu sɛ abofra no anisoadehu, ɔkasa, ne nipadua mu ahoɔden, ne sɛnea ɔne afoforo di nkitaho no so tew nkakrankakra. Yare no betumi aka ɔhome nhyehyɛe nso . Eyi betumi ama obi anya ɔhome mu nyarewa te sɛ `(pneumonia)`. Mmofra dodow no ara a wɔwɔ `(INAD)` wuwu ansa na wɔadi mfe 10 .

Mmofra a wɔwɔ ɔkwan a ɛyɛ soronko (aNAD) no fi ase nya sɛnkyerɛnne ahorow a efi mfe 7 kosi 12. Ɛwom sɛ wɔtra ase kyɛ sen mmofra a wɔwɔ ɔkwan a ɛtaa ba (INAD) de, nanso wɔn nkwa nna nso yɛ tiaa.

Abofra a ɔwɔ yare a emu yɛ den saa a wɔbɛhwɛ no no hwehwɛ adwene ne nipadua nyinaa . Wowɔ asiane mu nso sɛ wubenya ɔhaw ahorow te sɛ adwennwen ne adwenemhaw. Enti, hwɛ hu sɛ wobɛsrɛ mmoa, nya bere ma wo ho, na bɔ mmɔden sɛ wubenya anigye wɔ nneɛma nketenkete a ɛma w’ani gye wɔ w’abusua mu no mu .

Bere bɛn na ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn?

Sɛ wo ba no wɔ saa sɛnkyerɛnne yi bi a, kɔ oduruyɛfo nkyɛn:

• Ɔhaw ahorow a ɛfa kari pɛ, kankyee, anaa nantew ho
• Ɔhome a ɛyɛ den
• Ntini a ɛyɛ mmerɛw anaasɛ ɛtwetwe
• Ɛyɛ den sɛ wobɛkasa anaasɛ wobɛmene
• Anisoadehu anaa aso mu haw ahorow

Nsɛm bɛn na ɛsɛ sɛ wubisa wo duruyɛfo?

Ɛyɛ papa sɛ wubebisa wo duruyɛfo nneɛma te sɛ:

• `(INAD)` bɛn na me ba wɔ?
• Ayaresa ahorow bɛn na ebetumi aboa?
• Dɛn na yebetumi ayɛ wɔ fie na ama yare no ho sɛnkyerɛnne so atew?
• Henanom ne aduruyɛ ho abenfo a ɛsɛ sɛ yɛne wɔn hyia?
• So ɛsɛ sɛ wɔsɔ m’abusua mufo a aka no hwɛ sɛ ebia awosu mu nsakrae yi anaa?
• Nsɛnnennen bɛn na ɛsɛ sɛ mehwɛ yiye wɔ ho?

Awiei koraa no, nea ɛsɛ sɛ wokae (Take-Home Message) .

Sɛ wuhu sɛ wo ba no wɔ yare bi a wontumi nsa te sɛ Infantile Neuroaxonal Dystrophy (INAD) a, ɛyɛ ade a ɛsakra asetra. Saa srade a wɔkora so ho haw yi ka sɛnea wo ba no tumi keka ne ho, hu ade, odidi, na ɔkasa. Bere a wobetumi adi yare no ho sɛnkyerɛnne ahorow ho dwuma na wɔama wo ba no ho atɔ no no, wonnyaa ayaresa biara . Nanso, wɔreyɛ nhwehwɛmu foforo ne nnuruyɛ mu sɔhwɛ ahorow . Sɛ wowɔ nkwaadɔm mu nsakrae a ɛde INAD (aduru a ɛde ɔyare ba) ba a, wo ne wo duruyɛfo nkasa mfa akwan a wobɛfa so atew asiane a ɛwɔ hɔ sɛ wode bɛma awo ntoatoaso a ɛbɛba daakye no so. Mma wo nkutoo nkɔ da, nya mmoa a wuhia .

` INAD, nkokoaa neuroaxonal dystrophy, lipid storage disorder, awosu mu yare, yare a ɛntaa nsi, mmofra akwahosan, ntini mu yare, awosu mu nyarewa, nyarewa a ɛntaa nsi, mmofra akwahosan