Ðe nètsi dzi ɖe viwòa ƒe tsitsi ŋua? Mina míasrɔ̃ nu tso Alẽvi ƒe Dɔléle si woyɔna be Lamb-Shaffer Syndrome ŋu!

Ðe nèsena le ɖokuiwò me ɣeaɖewoɣi be viwò suea tsi megbe vie le woƒe tsitsi mea? Alo ɖe nèsusu be wotsi megbe le nuƒoƒo gɔmedzedzea mea? Ɣeaɖewoɣi la, esɔ be mí dzilawo be míatsi dzi vie ne míekpɔ nu siawo tɔgbe. Egbea, míele nu ƒom tso domenyiŋusẽfianu ƒe nɔnɔme aɖe si mebɔ kura o si ɖea dzesi siawo dometɔ aɖewo fiana ŋu. Woyɔa esia be Alẽvi ƒe Dɔléle.

Nukae nye Alẽvi ƒe Lãmesẽdɔléle?

Kpuie ko la, Lamb-Shaffer Syndrome (LAMSHF) nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o. Ne èse nya ‘domenyiŋusẽfianu’ la, àte ŋu asusu be, "Oo, ɖe esia nye nane si ƒua du le ƒomea mea?" Mina míaƒo nu tso ema ŋu gbã. Nɔnɔme sia ate ŋu ana ɖevi ƒe tsitsi nahe ɖe megbe . Esia fia be exɔa ɣeyiɣi aɖe hafi vidzĩ te ŋu nɔa anyi hezɔna. Ate ŋu ana ame ƒe nuƒoƒo nawɔ dɔ nyuie o eye wòana ame ƒe susu nazu nuwɔametɔ hã. Ðevi aɖewo hã ƒe nuwɔna ate ŋu ato vovo . Le kpɔɖeŋu me, woate ŋu awɔ nu wòagbɔ eme vie alo asesẽ na wo be woalé to ɖe wo ŋu. Menye ema ɖeɖeko o, ke ɣeaɖewoɣi la, àte ŋu akpɔ tɔtrɔ sue aɖewo le mo ƒe nɔnɔme me alo tɔtrɔ aɖewo gɔ̃ hã le ƒumeŋuɖui ŋu. Gake menye nɔnɔme siawo katãe dzena le ɖevi ɖesiaɖe me o, eye woate ŋu ato vovo tso ɖevi ɖeka gbɔ yi bubu gbɔ.

Wotsɔ ŋkɔ na esia be ‘Alẽvi-Shafer’ le numekula eve siwo ke ɖe nɔnɔmea ŋu zi gbãtɔ le ƒe 2012. Tso ɣemaɣi la, wogawɔ numekuku kple nyatakaka bubuwo tso nya sia ŋu.

Gake, ne èbia alesi esia bɔe hã la, le nyateƒe me la, esesẽna na ɖɔktawo be woagblɔe tututu. Elabena ƒã ŋutɔ . Vaseɖe fifia la, dɔléle sia ƒomevi mede 100 o si woŋlɔ ɖe atikewɔwɔ ŋuti nuŋlɔɖiwo me le xexeame katã. Eyata mewɔ nuku o ne mèse nya sia kpɔ o.

Nukae hea nɔnɔme sia vɛ? (Mina míasrɔ̃ nu tso SOX5 domenyiŋusẽfianu ŋu)

Enyo, eyata mina míakpɔ nusita Alẽvi ƒe Dɔléle sia (LAMSHF) dzɔna ɖa. Abe alesi megblɔe va yi ene la, domenyiŋusẽfianu ƒe dɔlélee nye esia . Domenyiŋusẽfianu le lãmenugbagbevi ɖesiaɖe me le míaƒe ŋutilã me. Menye ɖeko domenyiŋusẽfianu siawoe dea dzesi míaƒe kɔkɔme, amadede, kple ɖa ƒe nɔnɔme ko o, ke wokpena ɖe mía ŋu hã be míaɖu míaƒe ŋutilã ƒe dɔwɔwɔ vovovowo dzi. Ele abe ɖoɖowɔɖi aɖe si le kɔmpiuta me ene.

Tɔtrɔ (trɔtrɔ) si va le domenyiŋusẽfianu aɖe koŋ me le míaƒe ŋutilã me gbɔe Alẽvi-Schafer ƒe dɔlélea tsona. Woyɔa domenyiŋusẽfianu sia be `SOX5` domenyiŋusẽfianu . Zi geɖe la, `SOX5` domenyiŋusẽfianu sia ƒe kɔpi eve nɔa ame si le lãmesẽ me la ƒe ŋutilã me, eye wo ame evea siaa wɔa dɔ nyuie. Ke hã, dɔlékui ƒe tɔtrɔ aɖe le amesi ŋu Lamb-Schafer ƒe dɔlélea le si le `SOX5` domenyiŋusẽfianu sia ƒe kɔpi ɖeka me., si fia be tɔtrɔ si agblẽ nu le ame ŋu la li. Ne kɔpi kemɛa sɔ hã la, domenyiŋusẽfianu ɖeka sia ƒe tɔtrɔ tae dzesiawo dzena.

`SOX5` domenyiŋusẽfianu nye domenyiŋusẽfianu vevi aɖe si kpena ɖe proteinwo wɔwɔ ŋu le míaƒe ŋutilã me (protein ƒe wɔwɔme) kple lãmenugbagbevi ƒomevi aɖewo ƒe tsitsi dzi kpɔkpɔ, vevietɔ le ahɔhɔ̃ kple ŋutilã me . Eyata ne nu gblẽ le domenyiŋusẽfianu sia ŋu la, ate ŋu akpɔ ŋusẽ ɖe dɔwɔwɔ siwo do ƒome kplii dzi. See?

De Novo Dzɔdzɔmeŋusẽŋununya Kple Alesi Woƒe Domenyime

Fifia ɖewohĩ ànɔ ɖokuiwò biam be, “Ðe esia nye nusi nèxɔna tso dziwòlawo gbɔa?” Zi geɖe la, si fia be ɖevi akpa gãtɔ siwo ŋu Lamb-Schafer ƒe dɔlélea le la xɔa nɔnɔmea le esi nu yeye aɖe trɔ (de novo mutation). ‘De novo’ gɔmee nye ‘yeye’. Kpuie ko la, dzila evea siaa ate ŋu akpɔ `SOX5` domenyiŋusẽfianu ƒe kɔpi siwo le lãmesẽ me le woƒe ŋutilã ƒe lãmenugbagbeviwo me. Gake le fufɔɣi la, tɔtrɔ le `SOX5` domenyiŋusẽfianu me ateŋu adzɔ le vome le tsinyenye alo azi me. Esia menye ame aɖeke ƒe vodada o. Esia nye nusi dzɔ le vome.

Gake ɖevi ʋɛ aɖewo ŋutɔ (anɔ abe 15%) , siwo ade 15 le 100 ɖesiaɖe me, ŋue nɔnɔme sia le elabena dzilaawo dometɔ ɖeka ƒe dɔlékuiwutike (tsinyenye alo azi) ʋɛ aɖewo koe SOX5 domenyiŋusẽfianu ƒe tɔtrɔ le. Esia fia be lãmenugbagbevi bubu siwo le vidada alo fofoa ƒe ŋutilã me mekpɔa tɔtrɔ sia o, eyata dzila mawo meɖea Lamb-Schafer ƒe dɔlélea ƒe dzesiwo fiana o. Gake woƒe dɔlékuiwutike aɖewo koe ate ŋu atrɔ nɔnɔme sia. Woyɔa esia be dɔlékuiwo ƒe mosaicism. Esesẽ vie, gake ɖɔktawo ate ŋu aɖe eme na wò geɖe wu.

Ƒã wu gɔ̃ hã la, ɖevi ate ŋu anyi nɔnɔmea ƒe dome tso dzila si ŋu Lamb-Schafer ƒe dɔlélea le gbɔ. Ne edzɔ alea la, mɔnukpɔkpɔ 50% le ɖevi ma si be wòaxɔ dɔlélea. Esia fia be ɖevi ɖeka le eve ɖesiaɖe me ate ŋu anɔ eŋu, alo ɖeke manɔ eŋu kura o.

Nukawoe nye dzesiawo? Aleke nèwɔ dea dzesii?

Enyo, azɔ na míakpɔ dzesi siwo nàte ŋu akpɔ le ɖevi si ŋu Lamb-Schafer Syndrome (LAMSHF) le ŋu. Ðo ŋku edzi be menye dzesi siawo katãe anɔ ɖevi ɖesiaɖe ŋu o, dzesiawo dometɔ aɖewo koe ate ŋu anɔ wo dometɔ aɖewo ŋu, alo dzesiawo ƒe sesẽme ate ŋu ato vovo.

Zi geɖe la, dzesi gbãtɔ siwo dzenae nye nuƒoƒo kple lãmekawo ƒe dɔwɔwɔ ƒe megbetsitsi. Mɔ̃ɖaŋununya ƒe ŋutetewo dometɔ aɖewoe nye nusiwo le abe anyinɔƒe nɔnɔ, ʋuʋudedi, kple azɔlizɔzɔ ene. Esiawo ate ŋu axɔ ɣeyiɣi didi vie hafi viwòa nawɔ. Vidzĩ suewo hã ƒe lãmekawo ƒe ʋuʋu ate ŋu aɖiɖi (hypotonia) , si fia be woƒe ŋutilã ate ŋu aƒu kplakplakpla.

Dzesi siwo wokpɔna zi geɖe

Ne ɖevia le tsitsim la, àte ŋu ade dzesi dzesi geɖe wu. Esiawo dometɔ aɖewoe nye:

• Nuƒoƒo ƒe tsitsi si tsi megbe: Ate ŋu asesẽ na ɖevi aɖewo be woatsɔ nyawo asɔ kple wo nɔewo ahawɔ nyagbewo. Ame aɖewo ate ŋu adze nuƒoƒo gɔme tsi megbe ŋutɔ gɔ̃ hã.
• Susu ƒe ɣeyiɣi si dzi ɖe kpɔtɔ:Ate ŋu asesẽ be míaƒe susu nanɔ nu ɖeka ŋu ɣeyiɣi didi. Àte ŋu ahe wò susu bɔbɔe.
• Nuwɔna fũu akpa: Teƒe ɖeka nɔnɔ sesẽ, ate ŋu anye be wòanɔ du dzi anɔ fefem ɣesiaɣi.
• Susu ƒe nuwɔametɔnyenye: Nu yeyewo sɔsrɔ̃, ŋkuɖoɖo nuwo dzi, kple kuxiwo gbɔ kpɔkpɔ ate ŋu asesẽ vie. Alesi esia dzɔnae la toa vovo tso ame ɖeka gbɔ yi bubu gbɔ.
• Nukpɔsusu dzrowo: Ɣeaɖewoɣi la, àte ŋu akpɔ viwò wòanɔ ʋuʋu ƒomevi ɖeka ma ke wɔm (abe asi ƒoƒo alo ta ʋuʋu ene) zi gbɔ zi geɖe. Esiawo nye nusiwo wowɔna wo ɖokui dzi ɖuɖu manɔmee.
• Amewo ɖeɖe ɖe aga le hadome: Ate ŋu adzɔ be ame matsɔ ɖeke le hadede, fefe, alo dzeɖoɖo kple ame bubuwo me o.
• Dzikudodo: Esesẽna na ɖevi aɖewo be woaɖu woƒe seselelãmewo dzi, eya ta ate ŋu adzɔ dziku kple dzikudodo enuenu .
• Ŋku ƒe kuxiwo: strabismus , si nye ŋku ƒe ʋuʋu ƒomevi aɖe, alo ŋku ƒe ʋuʋu ƒe vodada , abe ŋku ƒe nukpɔkpɔ kpui alo ŋku ƒe ʋuʋu ene, ate ŋu anɔ ɖevi aɖewo ŋu, si ate ŋu abia be woado ŋkumekpɔnu.

Menye ɖevi ɖesiaɖe si ŋu dzesi siawo dometɔ ɖeka alo eve le ye ŋu Lamb-Schafer ƒe dɔlélea le o, si tae wòle vevie be woadi atikewɔlawo ƒe aɖaŋuɖoɖo ɖo.

Nu bubue nye be ɖevi siwo ŋu Lamb-Schafer ƒe dɔlélea le dometɔ ɖeka le ewo ɖesiaɖe me ate ŋu axɔ alɔ̃madɔmadɔ . Gake menye nenemae wòle le amesiame gome o.

Tɔtrɔ siwo vaa mo kple ŋutilã me

Ðewohĩ tɔtrɔ aɖewo koŋ anɔ ɖevi aɖewo ƒe mo ƒe nɔnɔme kple woƒe ŋutilã ƒe ƒuwo ŋu. Gake ɖewohĩ tɔtrɔ siawo made dzesi boo o, eye ɖɔkta koe ate ŋu ade dzesii.

• No si keke
• Ŋgonu si dzena nyuie (`frontal bossing`) .
• Asike alo aɖu sue
• Strabismus (ŋku siwo wotso) .
• Nuyi si le etame si le tsɛ alo nuyi siwo yɔ fũu edziedzi o
• Ƒu ɖeka alo esi wu nenema ƒe ƒoƒo ɖe kɔ me edziedzi
• Do ŋgɔ ƒe goglome le akɔta (kyphosis) .
• Woƒe akɔta ƒe ƒoƒo si mebɔ o (scoliosis) .

Ne wokpɔ dzesi siawo tɔgbe la, ɖɔktawo gawɔa dodokpɔ bubuwo tsɔ nyaa nusi gbɔ wòtso.

Aleke tututu nèwɔna dea dzesi esia? (Dɔléle ƒe dzesi) .

Ðɔktawo zãa domenyiŋusẽfianu dodokpɔ tsɔ nyaa nenye be Lamb-Schafer syndrome (LAMSHF) le ɖevi ŋu. Le kpɔɖeŋu me, ne ɖevi ƒe nuƒoƒo alo azɔlizɔzɔ tsi megbe, alo ne tɔtrɔ suesuesuewo va le mo alo ƒunukpeƒe ƒe nɔnɔme me la, ɖɔktawo ate ŋu aɖo aɖaŋu be woado domenyiŋusẽfianu ƒe dodokpɔ sia ƒomevi.

Domenyiŋusẽfianu dodokpɔ sia koe nye mɔ si dzi woato anya pɛpɛpɛ nenye be tɔtrɔ aɖe le `SOX5` domenyiŋusẽfianu si míeyɔ va yi me. Zi geɖe la, esia nyea dodokpɔ si wowɔna le ʋu si woɖe le ʋu me ŋu.

Àte ŋu ade dzesii le fufɔɣia?

Zi geɖe la, menye amesiamee wodoa Lamb-Schafer ƒe dɔlélea kpɔna le fufɔɣi o. Esia le alea elabena enye nɔnɔme si mebɔ kura o. Gake ne wonya be vidadaa alo ƒomea me tɔ kplikplikpli aɖe ƒe domenyiŋusẽfianu ƒe tɔtrɔ le `SOX5` domenyiŋusẽfianu me, alo ne Lamb-Schafer syndrome , le ƒomea me la , ɖɔktawo ate ŋu ado susu ɖa be woado nɔnɔmea kpɔ le fufɔɣi. Le nɔnɔme siawo tɔgbe me la, woate ŋu awɔ dodokpɔ abe `(amniocentesis)` ene le eŋutinunyala bibi aɖe ƒe aɖaŋuɖoɖo nu.

Nukawoe nye atikewɔmɔnuawo?

Fifia la, womekpɔ atike aɖeke koŋ na Lamb-Schafer syndrome (LAMSHF) o, si fia be ate ŋu ada dɔlélea keŋkeŋ. Ke hã, ema mefia be míate ŋu awɔ naneke o. Taɖodzinu vevitɔ si le atikewɔwɔ ŋue nye be wòana ɖevia ƒe agbenɔnɔ nanyo ɖe edzi eye wòakpe ɖe eŋu wòawɔ gbesiagbedɔwo.

Esia ate ŋu alɔ atikewɔwɔ kple dɔ vovovowo wɔwɔ ɖe eme. Le kpɔɖeŋu me:

• Nuwɔnawo dzi kpɔkpɔ ƒe atikewɔwɔ: Esia kpena ɖe ɖevia ƒe nuwɔna siwo mesɔ o dzi kpɔtɔna eye wòdea nuwɔna nyui ƒe dzi ƒo.
• Ame Ðekaɖekawo ƒe Hehenaɖoɖowo (IEP) alo Hehenaɖoɖo Tɔxɛwo: Ðoɖo siawo kpena ɖe ame ŋu be woana hehe ɖevi siwo xɔ ƒe siwo le suku dem si sɔ ɖe woƒe nusɔsrɔ̃ ƒe hiahiãwo nu.
• Nuƒoƒo ƒe atikewɔwɔ: Esia le vevie ŋutɔ na ɖevi siwo nuƒoƒo sesẽna be woƒe dzeɖoɖo ƒe ŋutetewo nanyo ɖe edzi.
• Lãmesẽfefe: Ðevi siwo ŋu akɔtakuxiwo le (abe scoliosis kple kyphosis ene) xɔa kamedede be woƒe nɔnɔme nanyo ɖe edzi, woado ŋusẽ woƒe lãmekawo, eye ɖewohĩ woana azɔlizɔzɔ ƒe kpekpeɖeŋunuwo.
• Domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo: Esia kpena ɖe dzilawo ŋu wosea ɖevia ƒe nɔnɔmea gɔme, wonyaa nyatakaka yeyewo na wo, eye woƒoa nu kple ƒomea me tɔ bubuwo tso afɔku siwo le nɔnɔmea me ŋu.
• Ŋkudɔdalawo ƒe dodokpɔwo: Ele vevie be woayi ŋkudɔdala gbɔ be wòada ŋkudɔlélewo.
• Ahɔhɔ̃mekawo ƒe dɔwɔwɔ me dzodzro: Ahɔhɔ̃ŋutinunyala ate ŋu akpe asi ɖe kuxi siwo do ƒome kple lãmekawo ƒe dɔwɔwɔ ŋu, abe alɔ̃madɔmadɔ kple azɔlizɔzɔ ƒe masɔmasɔ ene.
• Ƒumeŋuɖui ƒe dodokpɔwo: Kuxi siwo ku ɖe ƒunukpeƒetetedɔ ŋu, abe ƒumeŋuɖui ene, ate ŋu abia ƒumeŋutinunyala ƒe kpekpeɖeŋu.

Wowɔa esiawo katã be wòakpe ɖe ɖevia ŋu wòanɔ agbe nyui kple dziɖeɖi alesi wòate ŋui.Esi wònye be ame ɖesiaɖe ƒe atikewɔwɔ ƒe hiahiãwo ate ŋu ato vovo ta la, ɖɔktawo ƒe ƒuƒoƒo aɖe awɔ dɔ aduadu akpɔ nusi nyo na ɖevia.

Ðe ɖevi siwo ava va hã ate ŋu aɖo afɔku mea?

Ne ènya be domenyiŋusẽfianu ƒe tɔtrɔ `SOX5` le ye alo yeƒe ƒomea me tɔ aɖe ŋu, eye nèle mɔ kpɔm na vi bubu la, anyo be nàyi domenyiŋusẽfianu ŋuti aɖaŋuɖola gbɔ . Ate ŋu aɖe mɔnukpɔkpɔ siwo li be dɔlélea nava ɖe vi siwo woava dzi, kple alesi wòate ŋu akpɔ ŋusẽ ɖe mia kple viwòa dzi ne èwɔe la me na wò. Esia akpe ɖe ŋuwò nàwɔ nyametsotso siwo ŋu nènya nu tsoe.

Aleke agbea anɔ le nɔnɔme sia me? (Ŋusẽkpɔɖeamedzi si anɔ anyi ɣeyiɣi didi) .

Le nyatakaka siwo li fifia nu la, edze abe Lamb-Schafer ƒe dɔléle (LAMSHF) mekpɔa ŋusẽ ɖe ame ƒe agbenɔƒe dzi o ene. Ema nye gbɔdzɔe vie, alo? Gake agbenɔnɔ kple nɔnɔme sia ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ, eye agbenɔnɔ ƒe nyonyome ato vovo.

Ðewohĩ ame aɖewo mate ŋu awɔ woƒe dɔ le wo ɖokui si o. Le woƒe susuŋutete nu la, woate ŋu ahiã beléla nakpe ɖe wo ŋu le woƒe agbemeŋkekewo katã me. Ke hã, ne wowɔ nu ɖe ​​wo ŋu nyuie hekpe ɖe wo ŋu la, woate ŋu anɔ agbe si me dzidzɔ le, si me viɖe le.

Nusiwo nàbia wò ɖɔkta

Ne nya aɖe le asiwò ku ɖe viwòa alo nɔnɔme sia ŋu la, mègavɔ̃ gbeɖe be yeabia wò ɖɔkta alo dɔnɔdzikpɔla o. Àte ŋu abia nyawo abe:

• Nukawoe nye Lamb-Schafer ƒe dɔlélea ƒe dzesiwo?
• Dodokpɔ kawoe wòle be mawɔ be makpɔe ɖa be dɔléle sia le vinyea ŋu tututu?
• Atikewɔwɔmɔnu kawoe li?
• Ne vi bubu le asinye la, mɔnukpɔkpɔ kawoe li be eya hã naxɔ nɔnɔme sia?

Ele vevie ŋutɔ be nàbia nya siawo tɔgbe eye nàkpɔ nya siwo le susu me na wò la gbɔ.

Gbedasi si Wotsɔ Yi Aƒeme

Lamb-Shaffer Syndrome (LAMSHF) nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o. Ate ŋu ana ɖeviwo nahe ɖe megbe le tsitsime, susu ƒe dɔmawɔmawɔ nyuie, eye woƒe mo natrɔ . Ðevi aɖewo hã ate ŋu akpɔ akɔta ƒe kuxiwo.

Togbɔ be atike aɖeke meli na esia o hã la, dɔdamɔnu vovovowo li (abe nuƒoƒo ƒe dɔdamɔnu, nuwɔna ŋuti dɔdamɔnu, kple hehenana tɔxɛ ene) be woatsɔ ana ɖevia ƒe ŋutetewo kple agbenɔnɔ nanyo ɖe edzi.

Fifia woxɔe se be nɔnɔme sia mekpɔa ŋusẽ aɖeke ɖe agbenɔƒe dzi o. Ke hã, ate ŋu ahiã be woakpɔ ɖevi aɖewo dzi le woƒe agbemeŋkekewo katã me. Ne ɖikeke alo dzimaɖitsitsi aɖe le mewò le esia ŋu la, di atikewɔlawo ƒe aɖaŋuɖoɖo enumake. Emae nye nu nyuitɔ kekeake si wòle be nàwɔ.

` Lamb-Shaffer Syndrome, LAMSHF, SOX5 domenyiŋusẽfianu, domenyiŋusẽfianu ƒe dɔléle, tsitsi ƒe megbetsitsi, nuƒoƒo ƒe kuxiwo, susu ƒe nuwɔametɔnyenye