So wo ba no wɔ saa sɛnkyerɛnne ahorow yi? Momma yɛnka Leigh Syndrome ho asɛm!

Ɛyɛ anigye paa sɛ wubehu akokoaa a wɔawo no foforo, ɛnte saa? Nanso ɛtɔ mmere bi a, sɛ mfiase no ɛte sɛ nea wɔwɔ apɔwmuden mpo a, wobetumi afi ase ada sɛnkyerɛnne ahorow a ɛyɛ nwonwa adi wɔ asram kakraa bi akyi. Sɛ ɛyɛ den ma wɔn nufu, wosu pii, anaasɛ wɔn akisikuru a, eyinom betumi ayɛ awosu mu tebea bi a ɛntaa nsi a wɔfrɛ no Leigh Syndrome ho sɛnkyerɛnne. Eyi yɛ awerɛhow ankasa, nanso ɛho hia sɛ wohu.

Dɛn ne Leigh Syndrome? Sɛ yɛbɛka no tiawa a...

Leigh Syndrome a wɔsan frɛ no Leigh Yare no yɛ awosu mu yare a ɛntaa nsi koraa. Ɛka wo ba no ntini a ɛwɔ mfinimfini no titiriw. Ɛne sɛ, amemene, akyi berɛmo, ne ntini ahorow. Fa no sɛ, akokoaa a ɔwɔ saa tebea yi te sɛ nea ɔwɔ apɔwmuden bere dodow no ara bere a wɔawo no no. Nanso bere kɔ so no, nkwammoaa a ɛwɔ ne ntini mu no yɛ mmerɛw nkakrankakra anaasɛ ewuwu mpo.

Saa sɛnkyerɛnne ahorow yi taa fi ase bere a akokoaa no adi bɛyɛ asram 3, anaasɛ ansa na wadi mfe 2. Nneɛma a edi kan a wubehu ne sɛ ɛyɛ den sɛ wobɛnom nufu, pow sɛ wubedidi, osu a ntease biara nnim, ne akisikuru.

Nea ɛyɛ awerɛhow no, wonni aduru biara a ɛbɛtra hɔ daa a wɔde sa Lee yare no. Ɛyɛ tebea a ɛde nkwa to asiane mu. Mmofra dodow no ara a wɔwɔ saa tebea yi wuwu ansa na wɔadi mfe 3. Nanso, ɛntaa mma koraa sɛ tebea no betumi aba nkumaa anaa mpanyimfo a wɔn mfe akɔ anim so.

Dɛn ne Mitochondrial Nyarewa? Yɛn nipadua mu ahoɔden adwumayɛbea ahorow!

Sɛ yɛbɛte eyi ase a, ɛsɛ sɛ yedi kan hu mitochondria ho asɛm kakra . Sɛ yɛbɛka no tiawa a, mitochondria te sɛ ahoɔden adwumayɛbea nketewa a ɛwɔ yɛn nipadua mu nkwammoaa mu. Eyinom ne nea ɛma ahoɔden fi srade ne glucose a ɛwɔ aduan a yedi mu no mu na ɛdan no ade a wɔfrɛ no adenosine triphosphate (ATP) . Saa ATP yi na ɛma yɛn nkwammoaa nya ahoɔden ma ɛyɛ adwuma.

Mitochondria wɔ nkwammoaa biara mu gye yɛn mogya mu nkwammoaa kɔkɔɔ no nkutoo. Mitochondria nyarewa yɛ tebea horow a ɛba bere a saa mitochondria ahorow yi ntumi nyɛ adwuma yiye no. Nkwammoaa no nnya ahoɔden a wohia, na ɛma nkwammoaa no sɛe anaasɛ ewuwu.

Yɛn ntini ahorow no hia ahoɔden pii na ama yɛatumi ayɛ adwuma. Wɔ Lee syndrome mu no, nkwammoaa a ɛwɔ abofra ntini mu, titiriw nkwammoaa a ɛma amemene, ntini, ne akyi berɛmo mu ahoɔden no sɛe anaasɛ ɛsɛe.

So edin afoforo wɔ hɔ a wɔde frɛ Leigh Syndrome?

Yiw, Britania oduruyɛfo Archibald Denis Leigh na odii kan too saa yare yi din, na ɔkaa ho asɛm wɔ 1951. Ɔfrɛɛ no ​​Subacute Necrotizing Encephalomyelopathy (SNE) .Encephalomyelopathy yɛ yare a ɛka amemene ne akyi berɛmo. Nanso, nnɛyi nnuruyɛfo pii frɛ no Lee syndrome anaa Lee yare.

Dɛn ne Leigh Syndrome ahorow atitiriw?

Lee yare no ahorow atitiriw pii wɔ hɔ:

• Infantile Leigh Syndrome: Eyi ne nea abu so sen biara. Nsɛnkyerɛnne no da adi ansa na abofra no adi mfe 2. Wɔsan frɛ eyi sɛ Classical Leigh Syndrome. Ɛka mmarima ne mmea nyinaa pɛpɛɛpɛ.
• Lee syndrome a efi ase wɔ mpanyimfo mu: Nsɛnkyerɛnne no da adi wɔ mfe 2 akyi, ɛtɔ mmere bi a wɔ mmerantebere ne mmabaabere anaa mpanyin afe so mfiase. Eyi ho yɛ na koraa. Saa ɔkwan yi taa ka mmarima. Afei nso, yare no kɔ so nkakrankakra sen nea efi ase ntɛm no.
• Leigh-like syndrome: Wɔ eyi mu no, obi betumi ada Leigh syndrome ho sɛnkyerɛnne ahorow bi adi, nanso mfoninitwa mfiri nkyerɛ yare no ho sɛnkyerɛnne wɔ amemene no mu.

Saa yare yi abu so dɛn?

Wobu akontaa sɛ Lee yare a wɔde di dwuma wɔ tete mmere mu (mfiase) no ba wɔ mmofra a wɔawo wɔn foforo bɛyɛ 40,000 biara mu biako mu wɔ wiase nyinaa. Nanso, abu so kɛse wɔ mmeae bi. Nhwɛsoɔ:

• Mmofra a wɔawo wɔn foforo 2,000 biara mu biako wɔ Lac-Saint-Jean mantam mu wɔ Quebec, Canada.
• Mmofra a wɔawo wɔn foforo 1,700 biara mu biako wɔ Faroe Nsupɔw a ɛda Iceland ne Scotland ntam no so.

Wonhuu nea enti a ɛte saa ankasa.

Dɛn na ɛde Leigh Syndrome ba?

Abenfo ahu sɛ Lee yare no betumi afi awosu mu nkwaadɔm bɛboro 75 mu nsakrae mu aba . Saa nkwaadɔm mu nsakrae yi ka sɛnea yɛn nipadua no tumi yɛ ATP (ahoɔden).

Mmofra 10 biara a wɔwɔ Lee yare no mu awotwe nya tebea no fi awo mu wɔ akwan atitiriw abien so:

1. Autosomal recessive disorder: Wɔ eyi mu no, abofra no nya awosu mu nkwaadɔm mu nsakrae koro no ara fi awofo baanu no nyinaa hɔ. Awofo no yɛ wɔn a wɔkura saa nkwaadɔm mu nsakrae yi nkutoo na wonni yare no.

2. X-linked recessive genetic disorder: Eyi fi nkwaadɔm mu nsakrae a ɛba X chromosome no mu. Ebetumi afi ɛna no anaa agya no hɔ. Sɛ ɛna bi wɔ saa nkwaadɔm mu nsakrae yi wɔ ne X chromosomes no biako so a, hokwan wɔ 4 biara mu 1 sɛ ne babarima anaa ne babea benya nkwaadɔm mu nsakrae no. Sɛ abarimaa bi nya saa mutation yi fi awo mu a, obenya Lee syndrome; abeawa bi rennyɛ saa. Nanso, ɔbabea no betumi de awosu mu nkwaadɔm a asɛe no akɔma ne mma a ɔbɛba daakye. Agya betumi de X chromosome a wɔayɛ no foforo ama ne babea, nanso ɛnyɛ ne babarima.

Ɔkwan bɛn so na nsakrae a ɛba mitochondrial DNA mu no ma Lee yare no ba?

Mmofra 10 biara mu bɛyɛ 2 wɔ mitochondrial DNA (mtDNA) .Nsakrae bi a ɛba awosu mu nkwaadɔm mu no fi ɛna no hɔ. Wobetumi de saa nkwaadɔm mu nsakrae yi akɔ mmarima ne mmea nyinaa mu. Afei ebetumi aka abusua bi awo ntoatoaso nyinaa. Ɛntaa mma sɛ mtDNA mu nsakrae a ɛba ara kwa betumi aba. mtDNA mu nsakrae a wɔtaa hu wɔ Leigh syndrome mu ne nea esiw `MT-ATP6` awosu mu abɔde mu nkwaadɔm no kwan sɛ ɛbɛyɛ `ATP`.

Dɛn ne Leigh Syndrome ho sɛnkyerɛnne ahorow?

Lee syndrome ho sɛnkyerɛnne taa da adi wɔ akokoaa nkwa mfe abien a edi kan no mu. Mfiase no, ebia wo ba no bedu nkɔso a ɛfata ho, te sɛ ne ti a ɔbɛma akɔ soro tẽẽ. Afei, wɔde nkakrankakra san wɔn akyi, a ɛkyerɛ sɛ wɔhwere saa tumi ahorow yi anaasɛ wɔda nipadua anaa nkɔso a ɛkyɛ adi.

Lee yare no ho sɛnkyerɛnne a edi kan no bi ne:

• Ɛyɛ den sɛ ɔbɛmene ( dysphagia ), nufu a ɛnyɛ papa anaa aduan a wɔde ma ho haw.
• Ɔyare a ɛma obi dwensɔtwaa ne ɔfe.
• Ntini a ɛnyɛ den ( hypotonia ).
• Ahomegye a wɔtaa yɛ ne su bere nyinaa.
• Mmerewa a ɛwɔ ti a wɔde di dwuma ne nea ɛma obi tumi yɛ ade mu.

Bere a yare no kɔ so no, sɛnkyerɛnne afoforo betumi ada adi. Wobetumi ahu saa sɛnkyerɛnne ahorow yi nso wɔ Lee yare no fã a edi akyiri no mu. Nea ɛka ho ne:

• Tebea bi te sɛ adwenemhaw .
• Ɔhaw ahorow a ɛfa kankyee ne kari pɛ ho, sɛ nhwɛso no ataxia (hintiw bere a ɔnam, kari pɛ a ɔhwere).
• Ɛyɛ den sɛ wobɛbɔ nsɛmfua din yiye ( dysarthria ).
• Ntini a ɛtwetwe a ɛnyɛ ne pɛ ( dystonia ).
• Ntini a ɛtwetwe anaasɛ ɛyɛ den ( spasticity ).
• Ɔfã bi a ɛyɛ obubuafo.
• Ntini a ɛyɛ mmerɛw wɔ akwaa no mu ( peripheral neuropathy ).
• Nneɛma a ɛma obi ho popo.
• Nipadua mu nyin a ɛkɔ brɛoo.

Ɔkwan bɛn so na Leigh Syndrome ka anisoadehu?

Lee syndrome nso betumi aka ntini a ɛwɔ aniwa no mu, na ɛde ɔhaw ahorow te sɛ:

• Aniwa a wɔatwa ( strabismus ).
• Optic atrophy ( aniwa ntini a ɛyɛ mmerɛw ).
• Aniwa a ɛyɛ mmerɛw anaasɛ ɛyɛ mmerɛw.
• Aniwa a ɛkeka ne ho ntɛmntɛm a ɛnyɛ ne pɛ ( nystagmus ).
• Anisoadehu a wɔhwere.

Wɔ akyiri yi mmere mu no, mmerante ne mmabaa anaa mpanyimfo a wɔwɔ Lee syndrome no betumi anya kɔla anifurae na wontumi nhu ade wɔ mfinimfini ( anisoadehu a ɛba fam ).

Dɛn ne nsɛnnennen a ebetumi afi Leigh Syndrome mu aba?

Lactic acidosis fi lactic acid a ɛboaboa ano wɔ abofra no mogya mu esiane Lee syndrome nti.Eyi betumi asi. Yɛn nipadua no yɛ lactic acid bere a oxygen dodow a ɛwɔ nkwammoaa no mu no sua dodo sɛ ɛbɛboa wɔn nipadua mu nneɛma (a ɛdan carbohydrates ma ɛbɛyɛ ahoɔden) no. Afei nso, mframa bɔne a ɛwɔ wɔn mogya mu no betumi akɔ soro.

Lactic acidosis ne carbon dioxide dodow a ɛkɔ soro betumi de nea edidi so yi aba:

• Ɔhome a ɛyɛ den: ɔhome a ɛyɛ tiaa ( dyspnea ), ahome a ogyae bere tiaa bi ( apnea ), ne ɔhome a ɛnteɛ anaasɛ ɔhome ntɛmntɛm ( hyperventilation ).
• Komayare: koma ntini a ɛyɛ den ( hypertrophic cardiomyopathy ).
• Asaabo mu haw ahorow.

Ɔkwan bɛn so na wohu sɛ obi anya Leigh Syndrome?

Ebia wo duruyɛfo bɛkra sɛ wɔnyɛ nhwehwɛmu te sɛ eyinom:

• Mogya mu nhwehwɛmu: Hwɛ sɛ enzyme agyiraehyɛde ahorow a ɛkyerɛ sɛ lactic acidosis ne Leigh syndrome wɔ hɔ anaa.
• Mfoninitwa nhwehwɛmu te sɛ MRI (Magnetic Resonance Imaging) scans: Hwɛ sɛ amemene no mu ntini (akuru) asɛe anaa.
• Awosu mu nhwehwɛmu: Sɛnea ɛbɛyɛ a wobehu awosu mu nsakrae pɔtee a ɛde yare no reba.

Ɔkwan bɛn so na wɔsa Leigh Syndrome?

Nea ɛyɛ awerɛhow no, wonni aduru biara a ɛbɛtra hɔ daa a wɔde sa Lee yare no. Ayaresa no atirimpɔw titiriw ne sɛ wobedi yare no ho sɛnkyerɛnne ahorow no so na ama abofra no awerɛkyekye. Eyi yɛ yare a edi awu.

Ebia wo ba no benya ahotɔ kakra afi nneɛma te sɛ:

• Fa citric acid (sodium citrate) anaa sodium bicarbonate sa lactic acidosis yare .
• Thiamine (Vitamin B1) a wɔde twitwiw nipadua no mu na ama yare no akɔ so brɛoo.

Mmofra binom a wonni enzyme ahorow no betumi anya mfaso afi aduan a srade pii wom na carbohydrate kakraa bi wom mu. Ebia ɛho behia sɛ wɔde afiri (`enteral nutrition`) ma mmofra binom a ɛyɛ den ma wɔn sɛ wobedi aduan.

Sɛ wo ba wɔ Leigh Syndrome a, dɛn na wubetumi ayɛ?

Abofra a ɔyare a ɛto n’asetra ano a wɔbɛhwɛ no betumi ayɛ den. Nneɛma bi a wubetumi ayɛ de aboa ma adwennwen, dadwen, ne adwenemhaw a ebia wobɛte nka wɔ saa bere yi mu no so atew ni:

• Hwehwɛ akwan pa a wobɛfa so atew adwennwen so: te sɛ wo ne w’adamfo bi a wobɛkasa anaasɛ wode wo ho bɛhyɛ anigyede bi a w’ani gye ho mu.
• Kɔka kuw bi a wɔboa ho: Eyi betumi ayɛ kuw a wɔyɛ wɔn ankasa anaa wɔ Intanɛt so. Sɛ wo ne awofo afoforo bɛkasa a, ebetumi aboa wo ma woante nka sɛ ankonam.
• Ma wo ba no tebea, ne sɛnkyerɛnne soronko, ne sɛnea yare no kɔ so no ho nsɛm yiye.
• Gye bere ma wo ho.Sɛ wo ho atɔ wo nkutoo a, wubetumi ahwɛ wo ba no yiye.
• Nya mmoa dwumadie a wo ba hia: te sɛ ofie akwahosan ne ahosiesie dwumadie.
• Wo ne obi a ɔyɛ adwenemyare ho ɔbenfo nkasa . Eyi yɛ bere a emu yɛ den yiye, enti ntwentwɛn wo nan ase sɛ wobɛsrɛ mmoa.

Dɛn ne obi a ɔwɔ Leigh Syndrome daakye?

Mmofra dodow no ara a wɔwɔ Lee yare no wuwu esiane ɔhome a entumi nyɛ adwuma yiye nti bere a wɔadi mfe 3. Ɛntaa nsi koraa sɛ abofra a ɔwɔ Lee yare a efi ase ntɛm no bɛtra ase akosi ne mpanyin afe so. Nnipa a wonya Lee syndrome wɔ wɔn mpanyin afe so no betumi atra ase akosi wɔn mfe 50 mu.

So wobetumi asiw Leigh Syndrome ano?

Sɛ wowɔ abofra a ɔwɔ Lee syndrome a, wubetumi ayɛ awosu mu nhwehwɛmu de ahu sɛ ebia wo anaa wo hokafo wɔ awosu mu nsakrae a ɛde ba no anaa. Ebia wubesi gyinae sɛ wo ne awosu ho ɔfotufo bi behyia asusuw akwan a wobɛfa so atew asiane a ɛwɔ hɔ sɛ daakye mmofra benya nkwaadɔm mu nsakrae no afi awo mu no so.

Bere bɛn na ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn?

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

• Nkɔso a ɛkyɛ anaasɛ tumi a na ɛwɔ hɔ kan no a wɔhwere.
• Ɛyɛ den sɛ wobɛhome, adidi, anaa wobɛmene.
• Nneɛma a ɛma obi ho popo.
• Nipadua mu nyin a ɛkɔ brɛoo.

Dɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Wubetumi abisa wo duruyɛfo nsɛm te sɛ eyinom:

• Dɛn na ɛma me ba nya Lee syndrome?
• Ayaresa bɛn na ebetumi aboa me ba no?
• Dɛn na metumi ayɛ de aboa me ba wɔ fie?
• So ɛsɛ sɛ me ne me hokafo no yɛ awosu mu nhwehwɛmu?
• So ɛsɛ sɛ mihu nsɛnnennen ho sɛnkyerɛnne ahorow?

Nea etwa to no, nneɛma a ɛsɛ sɛ wokae (Take-Home Message) .

Ɛyɛ ade a ɛfata sɛ wobɛte nka sɛ woayɛ basaa na woadi awerɛhow bere a wuhu sɛ wo ba no wɔ tebea bi a ɛntaa nsi a ɛde ne nkwa to asiane mu saa no . Nanso kae sɛ ɛnyɛ wo nko ara. Ɛho hia sɛ wɔhwehwɛ ayaresa fi nnuruyɛfo a wɔn ho akokwaw wɔ tebea yi mu. Esiane sɛ Lee yare no betumi aka wo ba nipadua no afã horow pii, a amemene, aniwa, koma, ne asaabo ka ho nti, ebia ebehia sɛ wokɔ animdefo ahorow pii nkyɛn.

Saa nnuruyɛfo yi betumi aboa wo ma woadi wo yare no ho sɛnkyerɛnne ahorow ho dwuma na wɔde wo abata mmoa adwuma a wo ne wo ba no hia ho. Afei wubetumi anya bere a wo ne wo ba no nya no mu anigye sɛnea wubetumi biara. Saa akwantu yi yɛ den, nanso sɛ wonya ɔdɔ, mmoa, ne aduruyɛ mu afotu a ɛfata a, wubenya ahoɔden a wode begyina saa asɛnnennen yi ano.

leigh syndrome, mitochondrial yare, awosu mu yare, mmofra akwahosan, nkɔso a ɛkyɛ, ntini nhyehyɛe, ne nea ɛkeka ho