Ðe nètsia dzi ɖe wò ŋkume kple ŋɔti ƒe gbɔdzɔgbɔdzɔ hã ŋua? Mina míaƒo nu tso OPMD (Oculopharyngeal Muscular Dystrophy) ŋu .

Ðe nèse le ɖokuiwò me kpɔ be yeƒe ŋkume le kpekpem vie, eye wòsesẽna be yeaʋu wo nyuiea? Alo nu mimi sesẽna vie na wò, alo nèsena le ɖokuiwò me abe ɖe nane tsi wò ŋɔti me enea? Esiawo ate ŋu anye nusiwo sɔ ɣeaɖewoɣi siwo vaa ame ƒe tsitsi me. Gake le go siwo mebɔ o me la, esiawo ate ŋu anye domenyiŋusẽfianu ƒe dɔléle aɖe si woyɔna be Oculopharyngeal Muscular Dystrophy (OPMD) hã ƒe dzesiwo . Mègatsi dzi o, egbea míaƒo nu tso nusi OPMD nye, alesi wòdzɔnae, dzesi siwo le eŋu, kple nenye be atike aɖe li ŋu.

Nukae nye OPMD (Ŋku ƒe Lãmetsiŋusẽ ƒe Dɔléle)? Mina míase egɔme bɔbɔe.

Kpuie ko la, Oculopharyngeal Muscular Dystrophy (OPMD) nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o. Nusi dzɔna le esia mee nye be míaƒe ŋutilã ƒe lãmeka aɖewo gbɔdzɔna vivivi. Bu eŋu kpɔ, togbɔ be domenyiŋusẽfianu ƒe tɔtrɔ si hea dɔléle sia vɛ nye nane si wodzi mí hã la, zi geɖe la, dzesiawo dzea egɔme dzena le ƒe titina, si fia be ne míexɔ ƒe 40 alo 50 lɔƒo. OPMD sia le dɔléle siwo gbɔdzɔa lãmekawo ƒe ƒuƒoƒo si woyɔna be Muscular Dystrophy . Esiawo nye dɔléle siwo tso dzidzime yi dzidzime, si fia be wotoa domenyiŋusẽfianu dzi. Woyɔa OPMD be "Oculopharyngeal", eye wògblẽa nu le míaƒe:

• Ŋku - si nye lãmeka siwo ƒo xlã ŋkuwo.
• Pharyngeal - Esia fia lãmeka siwo le ŋɔti me siwo kpena ɖe mía ŋu míemia nuɖuɖu eye míeƒoa nu.

Dzesi siawo doa mo ɖa vivivi, si fia be wole ŋgɔ yim . Gake nya nyuiae nye be zi geɖe la, dzesi siawo doa mo ɖa vivivi ŋutɔ. Eyata mehiã be nàtsi dzi o.

Aleke gbegbee OPMD bɔe? Amekae ate ŋu atue ɖo wu?

Le nyateƒe me la, akɔntabubu aɖeke meli si tututu ku ɖe ame agbɔsɔsɔme si ŋu OPMD le le xexeame ŋu o. Gake eŋutinunyalawo bu akɔnta be dɔléle sia ate ŋu anɔ ame siwo ade 3,000 va ɖo 30,000 le United States ɖeɖe dzaa. Esia fia be enye dɔléle si mebɔ kura o. Togbɔ be OPMD ate ŋu adze ame sia ame dzi hã la, ebɔ ɖe amewo ƒe hatsotso aɖewo me wu. Le kpɔɖeŋu me:

• Le Bukharan Yudatɔ siwo le Israel dome (anɔ abe ame ɖeka le ame 700 ɖesiaɖe me).
• Le Franse-Canadatɔ siwo le Quebec nuto me, Canada (anɔ abe ame ɖeka le ame 1,000 ɖesiaɖe me) dome.

Togbɔ be nyatakaka aɖeke meli si me kɔ tso nɔnɔme sia ŋu le Sri Lanka o hã la, ele vevie be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo ne dzesi siawo tɔgbe le ŋuwò.

Nukae nye OPMD ƒe dzesiwo? Aleke wokpɔa dɔlélea dzea sii?

Abe alesi míedzro eme va yi ene la, wò ŋkuwo kple ŋɔti koŋue OPMD gblẽa nu le. Eyata gbɔdzɔgbɔdzɔ le wò ŋkume kple ŋɔti ƒe lãmekawo me ate ŋu ahe dzesiwo abe esiawo ene vɛ:

• Drooping eyelids ( Ptosis ) : Edzena abe ŋkumeɖonuawo le kpekpem ene eye womate ŋu aʋu wo nyuie o. Ɣeaɖewoɣi la, woate ŋu axe mɔ na nukpɔkpɔ.
• NuɖuɖuNu mimi sesẽ ( Dysphagia ): Seselelãme be ƒu le ŋɔti me alo nu mimi sesẽ ne wole nuɖuɖu alo nunono mimim. Esiae nye dzesi vevitɔ si ɖea fu na ame vie si wokpɔna le OPMD me.
• Dysphonia : Gbe ƒe tɔtrɔ, gbeɖiɖi ƒe ɖiɖi, alo nuƒoƒo nyuie sesẽna.
• Nukpɔkpɔ eve (Diplopia) : Nu ɖeka ate ŋu adze abe eve ene.
• Mo ƒe lãmekawo ƒe gbɔdzɔgbɔdzɔ : Lãmetsi siwo kpɔa mo ƒe seselelãmewo dzi ate ŋu agbɔdzɔ.
• Nukpɔkpɔ ƒe dɔmawɔmawɔ nyuie kple ŋku ƒe ʋuʋu ƒe seɖoƒe : Ate ŋu asesẽ be nàtrɔ ŋku ahafɔ mo dzi.
• Aɖe ƒe lãmekawo ƒe gbɔdzɔgbɔdzɔ alo woƒe vuvu : Esia ate ŋu ana nuwo abe aɖe ƒe dɔmawɔmawɔ nyuie kple nuɖuɖu ʋuʋu le nu me nasesẽ.

Tsɔ kpe ɖe dzesi siawo ŋu la, amesiwo ŋu OPMD le ate ŋu akpɔ gbɔdzɔgbɔdzɔ le lãmeka siwo le ŋutilã titina (si míeyɔna be proximal muscles ) hã ŋu. Etɔxɛe:

• Akɔta ƒe nuto
• Abɔtawo
• Ata si le etame

Ne lãmeka siawo gbɔdzɔ la, azɔlizɔzɔ ate ŋu asesẽ. Ðewohĩ ahiã be ame aɖewo nazã atizɔti alo afɔti . Ðewohĩ ame 1 le 10 ɖesiaɖe me siwo ŋu OPMD le la ahiã bunɔkeke .

Ke ne dzesiawo va do ŋgɔ wu alesi wokpɔ mɔe ya ɖe?

Ƒã ŋutɔ hafi ame aɖewo ate ŋu axɔ OPMD ƒe dɔléle sesẽ aɖe. Esiae nye esime lãmekawo ƒe gbɔdzɔgbɔdzɔ dzea egɔme nu sẽna hafi xɔa ƒe 45. Le nɔnɔme mawo me la, ebɔ be amewo megate ŋu zɔna le wo ɖokui si o ne woxɔ ƒe 60. Tsɔ kpe ɖe eŋu la, woate ŋu akpɔe be:

• Teteɖeanyi
• Ameflunyawo (si dze abe nu siwo menye nu ŋutɔŋutɔwo o ene) .
• Sidzedze ƒe ɖiɖi
• Lãmetsiŋusẽ ƒe kuxiwo (Ahɔhɔ̃mekawo ƒe dɔléle) .

Nɔnɔme sia ƒomevi mebɔ kura o, gake enyo be nànya, alo?

Nukae hea OPMD vɛ?

OPMD nye domenyiŋusẽfianu ƒe dɔléle . Esia fia be tɔtrɔ aɖe si va le míaƒe domenyiŋusẽfianu me le mía dzidzi me gbɔe wòtso. Domenyiŋusẽfianu ƒe tɔtrɔ si hea OPMD vɛ la dzɔna le PABPN1 domenyiŋusẽfianu me . Esia PABPN1Míate ŋu anyi domenyiŋusẽfianu ƒe tɔtrɔa ƒe dome tso mía dada, mía fofo, alo mía ame evea siaa gbɔ. Zi geɖe la, OPMD nɔa amesi ŋu OPMD le dzilawo dometɔ ɖeka ŋu. Bu eŋu kpɔ, míaƒe domenyiŋusẽfianu akpa gãtɔ va le eve eve me. Eyata, PABPN1 domenyiŋusẽfianu sia ƒe kɔpi eve hã le mía si le míaƒe DNA me. Be OPMD nadze ame dzi la, esɔ gbɔ be domenyiŋusẽfianu ƒe tɔtrɔ ma nanɔ PABPN1 domenyiŋusẽfianu sia ƒe kɔpi ɖeka ko me. Gake domenyiŋusẽfianu ƒe tɔtrɔ sia ate ŋu anɔ ame aɖewo ŋu le PABPN1 domenyiŋusẽfianu ƒe kɔpi eveawo siaa me. Le ame mawo tɔgbe gome la, zi geɖe la, OPMD ƒe dzesiwo ate ŋu asẽ vie eye woadze kaba.

Aleke nàwɔ anya kple kakaɖedzi be OPMD le ŋuwò? (Dɔléle ƒe dzesi) .

Ne OPMD ƒe dzesiwo le ŋuwò la, wò ɖɔkta anɔ te ɖe wò dzesiwo dzi anya wò gbã. Emegbe, woawɔ ʋudodokpɔ atsɔ aɖo kpe dɔlélea dzi. Esia adi domenyiŋusẽfianu ƒe tɔtrɔ le PABPN1 domenyiŋusẽfianu me. Tsɔ kpe ɖe eŋu la, wò ɖɔkta ate ŋu awɔ dodokpɔ siwo gbɔna hã:

• Electromyograms (EMG) : Dodokpɔ sia léa ŋku ɖe alesi wò lãmekawo wɔa nu ɖe ​​lãmekawo ƒe dzesiwo ŋui ŋu. Zi geɖe la , esia lɔ lãmekawo ƒe dɔwɔwɔ ŋuti numekukuwo kple aŋe ƒe elektrikŋusẽ dodokpɔ ɖe eme .
• Muscle biopsies : Esia bia be woaɖe lãmeka sue aɖe atsɔ adoe kpɔ. Lãmetsiŋusẽtike sia ate ŋu akpe ɖe ame ŋu wòade dzesi PABPN1 domenyiŋusẽfianu ƒe tɔtrɔ ne ʋudodokpɔwo me mekɔ o.
• Mimi dodokpɔwo : Ne nu mimi sesẽ na wò ( dysphagia ) la, dodokpɔ siawo dia kuxi siwo le wò ŋɔti ƒe lãmekawo ŋu be woakpɔ nusi gbɔ wòtso.

Nukawoe nye atike siwo wozãna na OPMD?

OPMD ƒe atikewɔwɔ toa vovo le wò dzesiwo kple woƒe sesẽ nu. Mègatsi dzi o, atikewɔmɔnu vovovowo li siwo ate ŋu akpe ɖe ŋuwò nàɖu wò dzesiwo dzi.

• Dɔwɔwɔ alo ŋutilãmedɔdada : Dɔwɔwɔ kple atikewɔla ate ŋu akpe ɖe ŋuwò nàtu ŋusẽ ɖo eye nàwɔ gbesiagbedɔwo. Ne azɔlizɔzɔ sesẽ na wò le lãmekawo ƒe gbɔdzɔgbɔdzɔ ta la, wò atikewɔla ate ŋu aɖo aɖaŋu na wò be nàzã mɔ̃wo abe atikplɔ , afɔtiwo , alo afɔtiwo ene .
• Nuƒoƒo ƒe atikewɔwɔ : Nuƒoƒo kple gbegbɔgblɔ ŋuti dɔléleŋutinunyala ate ŋu akpe ɖe ŋuwò le nu mimi kple nuƒoƒo ƒe kuxi siwo OPMD hena vɛ me. Woate ŋu aɖe nu mimi ƒe kuxiwo dzi akpɔtɔ to nuwo abe nuɖuɖu kple nu suesuesuewo, tɔtrɔ alesi nèléa tae, alo tɔtrɔ wò nuɖuɖu ƒe nɔnɔmewo ene me.
• Botulinum aɖi dodo : Ðɔkta doa botulinum aɖi ɖe lãmeka aɖe si le wò ŋɔti tame la me.Àte ŋu ado atike na wò. Esia nana lãmekaa ɖea dzi ɖi hena ɣeyiɣi aɖe, si wɔnɛ be wònɔa bɔbɔe na wò be nàmi nu. Gake be nàlé emetsonu siawo me ɖe asi la, ahiã be nàdo atike sia ɣleti ʋɛ aɖewo ɖesiaɖe.
• Blepharoptosis ɖɔɖɔɖo: Ne ŋkume ƒe ŋkume ƒe ʋuʋu ( ptosis ) xe mɔ na wò ŋkumekpɔkpɔ la , ɖɔkta ate ŋu aɖo aɖaŋu be nàwɔ dɔ na wò . Blepharoptosis repair nye dɔwɔwɔ si kɔa wò ŋkume ɖe dzi ale be nàte ŋu akpɔ nu nyuie wu.
• Cricopharyngeal myotomy : Esia nye amekoko. Amekola aɖe lãa nu sue aɖe le wò ŋɔti me, vevietɔ le cricopharyngeal muscle, si le nuɖuɖutome la tame tututu . Esia kpena ɖe wò ŋɔti me lãmekawo ŋu wòɖea dzi ɖi, si wɔnɛ be nuɖuɖu toa wò nuɖuɖutome bɔbɔe wu.
• Tube feeding (Enteral nutrition) : Ne wò nu mimi sesẽ ( dysphagia ) nu sẽ la, feeding tube ate ŋu anye atike si sɔ. Ðɔkta tsɔa mɔ̃ sia toa wò ŋɔti alo dɔgbo me eye wòtsɔa nunyiamewo yia wò dɔgbo alo dɔgbo me tẽ. Esia wɔnɛ be nunyiame si nèhiã la sua asiwò, eye nètoa wò ŋɔti ŋu keŋkeŋ.

Nu vevitɔe nye be nàƒo nu kple ɖɔkta be wòatia atike si anyo na wò. Menye ame sia ame ƒe nɔnɔmee nye ɖeka o.

Ðe OPMD ƒe atike yeye aɖewo li siwo le dɔdamɔnu dodokpɔwo mea?

Ẽ, àte ŋu adze na OPMD ƒe dɔdamɔnu dodokpɔwo . Àte ŋu abia wò ɖɔkta tso nusiawo ŋu. Ðɔktawo le atike bubuwo hã zãm tsɔ le kpekpem ɖe ame ŋu be woaɖe OPMD ƒe dzesiwo dzi akpɔtɔ. Gake numekulawo gale nu srɔ̃m tso alesi atikewɔmɔnu siawo gblẽna le ame ŋu ɣeyiɣi didi ŋu.

Ðe mɔ aɖe li si dzi woato axe mɔ na OPMD be wòagadze oa?

Nublanuitɔe la, OPMD nye domenyiŋusẽfianu ƒe dɔléle, eyata mɔ aɖeke meli si dzi woato axe mɔ nɛ be wòagava o. Gake ne OPMD le dziwòlawo dometɔ ɖeka ŋu la, àte ŋu abu domenyiŋusẽfianu dodokpɔ ŋu . Dodokpɔ sia léa ŋku ɖe domenyiŋusẽfianu ƒe tɔtrɔ si hea OPMD vɛ ŋu. Domenyiŋusẽfiala aɖe aɖe wò dodokpɔa me tsonu me na wò eye wòafia nu wò hã tso afɔku si le OPMD alo dɔléle bubu siwo ƒe dome nènyi me na viwòwo ŋu.

Aleke etsɔme anɔ na amesi ŋu OPMD le?

OPMD ate ŋu akpɔ ŋusẽ gbegblẽ ɖe wò agbenɔnɔ ƒe nyonyome dzi. Gake zi geɖe la, mekpɔa ŋusẽ ɖe wò agbenɔƒe dzi o. Atikewɔwɔ ate ŋu akpe ɖe ame ŋu wòaɖu dzesiawo dzi eye wòaɖe kuxi siwo ate ŋu ado mo ɖa dzi akpɔtɔ. Eyata mègatsi dzi o.

Nukawoe nye kuxi siwo ate ŋu ado tso OPMD me?

OPMD ƒe kuxi vevitɔ do ƒome kple nu mimi sesẽ. Wò aɖe kple ŋɔti ƒe lãmekawo gbɔdzɔna, si wɔnɛ be nuɖuɖu sesẽna. Esia dzia wò afɔku si le:

• Aspiration pneumonia (aklãdɔ si nuɖuɖu alo tsi siwo gena ɖe yaƒoƒomɔ̃a me hena vɛ ) .
• Aɖuɖɔtoe
• Nunyuimakpɔɖui

Eyata ne nu mimi sesẽ na wò ( dysphagia ) le OPMD ta la, kpɔ egbɔ be yeƒo nu kple yeƒe ɖɔkta tso atikewɔmɔnu siwo nàte ŋu azã ŋu. Ðewohĩ ahiã hã be nàtrɔ wò nuɖuɖu ƒe nɔnɔmewo be nàɖe kuxi siawo ƒe afɔkua dzi akpɔtɔ.

Nya kawoe wòle be mabia nye ɖɔkta?

Ne OPMD le ŋuwò, alo nèsusu be ɖewohĩ ele ye ŋu la, anyo be nàbia nya siawo abe esiawo ene wò ɖɔkta:

• Nukae nye OPMD ƒe dzesi gbãtɔwo?
• Aleke woawɔ anya OPMD nyuie?
• Nukawoe nye atikewɔmɔnu siwo woate ŋu azã na OPMD?
• Nukawoe nye kuxi siwo ate ŋu ado tso OPMD me?
• Mɔnukpɔkpɔ kawoe li be vinyewo naxɔ OPMD tso gbɔnye?

Bia nya siawo be nàse wò nɔnɔmea gɔme nyuie wu.

Ðe OPMD ate ŋu ahe ku gɔ̃ hã vɛa?

OPMD ŋutɔ mekpɔa ŋusẽ ɖe wò agbenɔƒe dzi tẽ o. Gake ne womewɔ atike nɛ o la, ŋɔti ƒe lãmekawo ƒe gbɔdzɔgbɔdzɔ ate ŋu ana nɔnɔme siwo ate ŋu ade ame ƒe agbe afɔku me abe akɔta ƒe ʋuʋu alo aklãdɔ si wogbɔna ene ƒe afɔkua nadzi ɖe edzi . Eyata ele vevie be nàdi atike kaba ne dzesiwo le ŋuwò.

Ðe OPMD ate ŋu ana ɖeɖi nate amea?

Ẽ, OPMD ate ŋu ana ɖeɖi nate ame ŋu. Menye ɖeɖiteameŋue nye OPMD ƒe dzesi vevitɔ o, gake ebɔ ɖe amesiwo ŋu dɔlélea le dome. Numekuku aɖe ɖee fia be ɖeɖi tea ame siwo ŋu OPMD le ƒe afã lɔƒo si doa kplamatse woƒe gbesiagbedɔwo.

Nɔnɔme bubu kawoe ƒe dzesiwo sɔ kple OPMD tɔ?

Atikewɔwɔ ƒe nɔnɔme aɖewo li siwo ƒe dzesiwo ate ŋu asɔ kple OPMD tɔ. Eyata ele vevie be woakpɔ dɔlélea nyuie. Kpɔɖeŋu aɖewoe nye:

• Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) : Esia hã nye domenyiŋusẽfianu ƒe dɔléle. Dzesiawoe nye ŋkume ƒe ʋuʋu kple woƒe ŋeŋe.
• Chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome) : Esia nye ahɔhɔ̃mekawo ƒe dɔléle si mebɔ o si gblẽa nu le ŋkuwo kple dzi ŋu.
• Myasthenia gravis : Esia nye dɔléle si dɔlélenutsiŋutete wɔna si nana lãmekawo gbɔdzɔna eye ɖeɖi tea wo ŋu.
• Oculopharyngodistal myopathy : Dɔléle sia ate ŋu ahe OPMD ƒe dzesi geɖe vɛ, tsɔ kpe ɖe gbɔgbɔtsixetsixe kple ɖewohĩ tosese ŋu.

Nusiwo dzi míaɖo ŋkui tso nusi ŋu míeƒo nu tsoe me (Take-Home Message) .

Enyo, eyata fifia ènya be OPMD (Oculopharyngeal Muscular Dystrophy) nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o si gbɔdzɔa ŋkume kple ŋɔti ƒe lãmekawo. Zi geɖe la , dzesiawo dzena le ƒe 40 xɔxɔ vɔ megbe. Wò ɖɔkta ate ŋu awɔ dodokpɔ siwo hiã be woatsɔ anya OPMD eye wòana atike si akpe ɖe ŋuwò nàɖu wò dzesiwo dzi.

Ðo ŋku edzi be OPMD ƒe dzesiwo nu sẽna ɖe edzi le ɣeyiɣi aɖe megbe. Eye mekpɔa ŋusẽ ɖe wò agbenɔƒe dzi o. Ne wowɔ atike na wò nyuie la, àte ŋu alé agbe nyui nɔnɔ me ɖe asi. Esia tae wòle vevie be míanɔ te sesĩe ɖo.

oculopharyngeal muscular dystrophy, OPMD, ptosis, dysphagia, lãmekawo ƒe gbɔdzɔgbɔdzɔ, domenyiŋusẽfianu ƒe dɔléle, PABPN1 domenyiŋusẽfianu, nu mimi sesẽ, ŋkume ƒe ʋuʋu