Ðe lãmekawo vea wò le kamedede vi aɖe megbe gɔ̃ hã? Esia ate ŋu anye McArdle Dɔléle!

Wò hã èsea veve ɣeaɖewoɣi eye nègbɔdzɔna ne èle kame dem alo le nane si bia agbagbadzedze vi aɖe wɔm, alo? Ema sɔ. Gake le ame aɖewo gome la, nɔnɔme sia sɔ gbɔ vie. Nu sue aɖe wɔwɔ gɔ̃ hã nana ɖeɖi tea ŋuwò kabakaba, eye wò lãmekawo va nɔa veve sem hetsina. Egbea míele nu ƒom tso nɔnɔme aɖe si mebɔ o gake wòle vevie ŋutɔ si ŋu wòle be míanya nu tsoe ŋu. Woyɔa esia be McArdle ƒe dɔléle, alo `glycogen storage disease type 5 (GSD5)`.

Nukae nye McArdle Dɔléle?

Kpuie ko la, McArdle ƒe dɔlélea nye domenyiŋusẽfianu ƒe dɔléle si nɔa míaƒe ƒomewo me . Wò ƒunukpeƒewo koŋue wògblẽa nu le . Eyae nye lãmeka siwo míezãna tsɔ ʋãna, kɔa nuwo ɖe dzi, eye míezɔna.

Dɔléle sia tsoa enzyme tɔxɛ aɖe si le míaƒe lãmekawo me si woyɔna be `muscle glycogen phosphorylase` alo `myophosphorylase` ƒe anyimanɔmanɔ alo eƒe anyimanɔmanɔ kura gbɔ . Ne enzyme sia megali kura o la, míaƒe lãmekawo mete ŋu wɔa ŋusẽ si hiã o. Esia tae dzesiwo abe lãmekawo ƒe veve, lãmekawo ƒe sesẽ, kple ɖeɖiteameŋu dzena le kamedede me alo ne ɖeɖi te mía ŋu.

Zi geɖe la, dzesiawo dzea egɔme dzena le ƒe 15-20 xɔxɔ megbe, alo le ƒe 20 alo 30-awo me . Ke hã, ate ŋu adze ɣeaɖewoɣi le ƒe ɖesiaɖe me. Wotsɔ ŋkɔ na dɔlélea be "McArdle" le Ðɔkta Brian McArdle, amesi ka nya ta zi gbãtɔ le ƒe 1951 me la ƒe ŋkɔ me.

Aleke gbegbee dɔléle sia bɔe?

Le nyateƒe me la , McArdle dɔlélea nye dɔléle si mebɔ kura o . Le numekulawo ƒe nya nu la, edzea ame ɖeka le 50,000 ɖesiaɖe me va ɖo ame ɖeka le 200,000 ɖesiaɖe me le United States.

Nukawoe nye dzesiawo?

Dɔléle sia ƒe dzesiwo ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ ŋutɔ. Ame aɖewo ate ŋu akpɔ dzesi siwo nu mesẽ kura o, evɔ ame bubuwo ya ate ŋu agblẽ nu le wo ŋu vevie wu.

Dzesi vevitɔ kple esi bɔ wue nye kamedede ƒe mɔmaɖemaɖeɖenuŋu, si fia be ɖeɖi tea eŋu kaba ne èle kame dem . Dzesi bubuwoe nye:

• Lãmetsiwo ƒe ʋuʋu
• Gbɔdzɔgbɔdzɔ
• Ɖeɖiteameŋu
• Lãmetsiwo ƒe vevesese
• Lãmetsiwo ƒe sesẽ

Dzesi siawo katã ate ŋu adze ne ènya dze kamedede gɔme ko. Gake zi geɖe la, woɖiɖina ne wogbɔ ɖe eme vie . Nukutɔe la, ame aɖewo kpɔnɛ be ne ɖeɖi te yewo ŋu le gɔmedzedzea me megbe la, ne yewogbɔ ɖe eme vie eye emegbe yewogawɔ kamedede ma ke ake la, yewoate ŋu awɔe nyuie wu tsã. Woyɔa esia be "ya evelia." Ðeko wòle abe ya evelia ene. Ne mède kame o la, zi geɖe la, mèsea dzesi aɖeke le eŋu o.

Àte ŋu awɔ kamedede si mesẽ o, abe azɔlizɔzɔ le anyigba si le gbadzaa dzi ene, kuxi aɖeke manɔmee. Gake kamedede sesẽ ate ŋu ahe dzesiwo vɛ kaba. Vevietɔ kamedede siwo bia be nàlé lãmekawo ɖe teƒe si womaʋã o, abe isometric exercises , akɔta, kple tsitretsitsi ɖe wò afɔbidɛwo dzi ene, ate ŋu agblẽ nu le lãmekaawo ŋu. Bu alesi nèsena le ɖokuiwò me ne èle gas-goe kɔm alo tsɔ akplo kpekpe aɖe ŋu kpɔ.

Ðe esia ate ŋu ahe kuxi sesẽwo vɛa? (Kuxi siwo dona tso eme) .

Ẽ, ɣeaɖewoɣi la, kuxi sesẽwo ate ŋu ado mo ɖa. Ame siwo ŋu McArdle dɔlélea le ƒe afã lɔƒo va xɔa nɔnɔme aɖe si woyɔna be `rhabdomyolysis` le kamedede sesẽ megbe . Esiae nye esime lãmekawo gblẽna.

Rhabdomyolysis nye dɔléle sesẽ aɖe si ate ŋu ade ame ƒe agbe afɔku me, si ate ŋu ana ayiku nawɔ dɔ kpata (ayiku ƒe dɔmawɔmawɔ nyuie) eye potassium nasɔ gbɔ ɖe ʋua me si me afɔku le (hyperkalemia).

Eyata ele be nàɖɔ ŋu ɖo vevie le kamedede ƒe agbɔsɔsɔme kple alesi nèdea kamee ŋu. Esia akpe ɖe ame ŋu be woaxe mɔ ɖe nɔnɔme si nye `rhabdomyolysis` nu. Ne èkpɔ dzesi aɖewo abe lãmekawo ƒe vuvu, aɖuɖɔ si do viviti (si ƒe amadede nye aŋutiɖiɖi, dzĩ, tii) , ele be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo enumake .

Nukatae esia le dzɔdzɔm? Nukawoe nye susu siwo tae wòle alea ɖo?

McArdle dɔléle nye domenyiŋusẽfianu ƒe nɔnɔme . Etɔxɛe la, domenyiŋusẽfianu `PYGM` ƒe tɔtrɔwo gbɔe wòtsona. Zi geɖe la, `PYGM` domenyiŋusẽfianu sia fiaa mɔ míaƒe ŋutilã be wòawɔ enzyme si woyɔna be `myophosphorylase`.

Míaƒe ƒunukpeƒeŋusẽ ƒe lãmenugbagbeviwo me koe enzyme sia le. Egbãa glycogen (sukli si wodzra ɖo) si le lãmekawo me wòzua glucose-1-phosphate. Emegbe wogatrɔa glucose-1-phosphate sia wòzua sukli. Glucose ye nye míaƒe ŋutilã ƒe ŋusẽtsoƒe vevitɔ . Ne míele kame dem la, míaƒe lãmekawo zãa sukli sia geɖe.

Fifia, ne `myophosphorylase` enzyme la le sue alo mewɔe kura o le tɔtrɔ siwo va le `PYGM` domenyiŋusẽfianu me ta la, míaƒe lãmekawo mete ŋu gblẽa `glycogen` me nyuie eye wowɔa ŋusẽ (`glucose` o). Esia tae lãmekawo tea ɖeɖi wo ŋu kabakaba ɖo.

Numekulawo de dzesi vovototo vovovo 179 (to vovo) siwo kpɔa ŋusẽ ɖe `PYGM` domenyiŋusẽfianu dzi vaseɖe fifia.

Alesi McArdle dɔlélea nyi domee

Ènyi dɔlélea ƒe dome tso dziwòla ŋutɔŋutɔwo gbɔ, le ``autosomal recessive`` ƒe ɖoɖo nu . Kpuie ko la, ele be dzila eveawo siaa nanye domenyiŋusẽfianu si wogbugbɔ la ƒe ``tsɔlawo``, si fia be domenyiŋusẽfianu si te ɖe wo ame evea siaa ŋu.Zi geɖe la, amesiwo tsɔa dɔlélea meɖea dzesi aɖeke fiana o. Gake ne dzila evea siaa nye amesiwo tsɔa domenyiŋusẽfianu eye wo ame evea siaa tsɔ domenyiŋusẽfianu si wogbugbɔ trɔ la na wo viwo la, dɔlélea va doa mo ɖa.

Aleke ɖɔktawo dea dzesi esiae? (Dɔléle ƒe dzesi) .

Ðɔktawo zãa abɔta ƒe kamedede dodokpɔ koŋ tsɔ dea dzesi dɔléle sia. Esia bia be nàxɔ ʋu do ŋgɔ na kamedede sue aɖe kple wò abɔta kple ne èwɔe vɔ megbe. Etɔxɛe la, woléa ŋku ɖe `lactic acid` kple `ammonia` ƒe agbɔsɔsɔ ŋu .

Zi geɖe la, ele be lactic acid ƒe agbɔsɔsɔ nadzi ɖe edzi abe zi gbɔ zi etɔ̃ ene le kamedede megbe. Gake ne wò lactic acid ƒe agbɔsɔsɔ mekɔ le dodokpɔ sia me o la, enye dzesi be McArdle ƒe dɔlélea ate ŋu anɔ ŋuwò.

Dodokpɔ bubuwo li siwo ate ŋu akpe ɖe ame ŋu wòaɖo kpe dɔléle sia dzi:

• Creatine kinase (CK) ʋudodokpɔ: Ne lãmekawo gblẽ la, enzyme aɖe si woyɔna be creatine kinase (CK) ƒoa ƒu ɖe ʋua me. Amesiwo ŋu McArdle ƒe dɔlélea le ate ŋu axɔ CK ƒe agbɔsɔsɔ si sɔ gbɔ ɣesiaɣi.
• Graded exercise stress test: Esia ate ŋu ado nudzɔdzɔ si woyɔna be "ya evelia" kpɔ. Ðɔktaa ana nàde kame zi ʋɛ aɖewo, aɖi ɖe eme le wo dome, eye nàkpɔe ɖa be àte ŋu awɔ kamededea nyuie le ɖiɖiɖemeɣia megbe hã.
• Lãmetsiwo ɖeɖe: Le dodokpɔ sia me la, ɖɔkta aɖe ɖea wò ƒunukpeƒeŋusẽ ƒe lãmeka sue aɖe heɖonɛ ɖe dodokpɔxɔ aɖe be woatsɔ nusuekpɔmɔ̃ akpɔe. Dɔléleŋutinunyala aɖe léa ŋku ɖe lãkusia ŋu be yeakpɔe ɖa be McArdle dɔlélea ƒe dzesi aɖewo li hã.
• Domenyiŋusẽfianu dodokpɔ: Esia ate ŋu ade dzesi domenyiŋusẽfianu ƒe tɔtrɔ tɔxɛ si hea McArdle dɔlélea vɛ.

Nukae míate ŋu awɔ tso esia ŋu? (Dᴐyᴐyᴐ)

Nublanuitɔe la, atike aɖeke meli na McArdle ƒe dɔlélea o . Atikewɔwɔ vevitɔe nye be nàƒo asa na nuwɔna siwo ana wò dzesiawo nagado gã ɖe edzi. Gake kamedede aɖeke kura mawɔmawɔ menyo na wò lãmesẽ hã o.

Numekukuwo ɖee fia be kamedede si me ya le si ƒe sesẽme sɔ, si woɖo ɖe ɖoɖo nu ate ŋu aɖe vi na amesiwo ŋu McArdle dɔlélea le. Ame siwo wɔa kamedede sia ƒomevi la ƒe kamedede ƒe mɔmaɖemaɖeɖenuŋu dzi ɖe kpɔtɔ ŋutɔ, eye woate ŋu ase "ya evelia" ma hã kabakaba wu le kamedede me. Àte ŋu awɔ dɔ kple wò ɖɔkta kple kamededeŋutinunyala be woadi kamedede ƒe atikewɔwɔ ƒe ɖoɖo nyuitɔ kekeake na wò.

Azɔ hã, nuɖuɖu si me carbohydrates sɔ gbɔ ɖoNumekukuwo ɖee fia be enono ate ŋu aɖe dzesi siwo dzena le kamedede me hã ƒe sesẽ dzi akpɔtɔ. Esia kpena ɖe wò lãmekawo ŋu be woazã sukli (sukli) le wò ʋu me ɖe glycogen teƒe hena ŋusẽ. Wò ɖɔkta alo nuɖuɖuŋutinunyala si woŋlɔ ŋkɔ na ate ŋu aɖo aɖaŋu na wò be nàwɔ nuɖuɖu ƒe ɖoɖo abe esia ene:

• Ele be wò gbesiagbe nuɖuɖumeŋusẽ ƒe 65% natso carbohydrates sesẽwo me (tso nusiwo le abe amagbewo, atikutsetsewo, abolo, pasta, kple bli ene me).
• Calorie siwo tso ami me ƒe 20% .
• Calorie siwo tso protein me ƒe 15% .

Ate ŋu aɖe vi hã ne èno sukli bɔbɔe aɖe, abe kamedefefenu si me sukli le ene, do ŋgɔ teti na kamedede.

Aleke wòle be woanɔ agbe kple esia?

Ame akpa gãtɔ siwo ŋu McArdle dɔlélea le la nɔa agbe si sɔ . Ame aɖewo ateŋu akpɔ gbɔdzɔgbɔdzɔ atraɖii kple lãmekawo ƒe gbegblẽ (`atrophy`) emegbe le woƒe agbe me, zi geɖe le woƒe ƒe 60 alo 70-awo me.

Nu vevitɔ enye be woanya `rhabdomyolysis` nɔnɔme si míeyɔ va yi ƒe dzesiwo eye woaxe mɔ nɛ be wòagadzɔ alesi woate ŋui o, elabena eyae nye dɔléle sia ƒe kuxi vevitɔ.

Nukae nye agbenɔƒe si ame si ŋu dɔléle sia le?

Zi geɖe la , McArdle dɔlélea mekpɔa ŋusẽ ɖe agbenɔƒe dzi o .

Ke hã, ƒã ŋutɔ la, nɔnɔme aɖe li si woyɔna be `infantile McArdle syndrome` , si dzena le vidzidzi megbe teti kloe. Esia wua ame – dzesiawo nu sẽna eye wogblẽna ɖe edzi kabakaba.

Ðe woate ŋu axe mɔ ɖe McArdle ƒe dɔlélea nua?

Esi wònye domenyiŋusẽfianu ƒe nɔnɔme sia nye ta la, naneke meli míate ŋu awɔ atsɔ axe mɔ ɖe enu o .

Ne ètsi dzi ɖe afɔku si le eme be McArdle dɔléle alo domenyiŋusẽfianu ƒe dɔléle bubuwo xɔxɔ ƒe dome hafi nàdzi vi ŋu la, anyo be nàƒo nu kple wò ɖɔkta tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo ŋu .

Ɣekaɣie wòle be makpɔ ɖɔkta?

Ne wò dzesiwo gagblẽ ɖe edzi, alo ne wò kamedede si nèwɔna ɖaa ƒe ŋutete trɔ la, yi ɖɔkta gbɔ.

Ðewohĩ ahiã hã be nàyi kamededeŋutinunyala kple/alo nuɖuɖuŋutinunyala gbɔ edziedzi be wòafia mɔ wò le wò atikewɔwɔ ƒe ɖoɖoa ŋu.

Ɣekaɣie wòle be nàyi Atikewɔwɔ Kpata ƒe Dɔwɔƒe (ETU) ?

Ne `rhabdomyolysis` ƒe dzesiwo le ŋuwò la, ele be nàyi xɔ si me wowɔa dɔ kpata le (ETU) kaba ale si nàte ŋui . Dzesiawoe nye:

• Lãmetsiwo ƒe vuvu
• Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ
• Vevesese kple vevesese ne woka asi lãmekawo ŋu
• Aɖuɖɔ doviviti (blɔ, dzĩ, tii ƒe amadede) .
• Tsikuɖiɖi
• Aɖuɖɔtoe dzi ɖeɖe kpɔtɔ
• Xeɖeɖe
• Ame ƒe susu ƒe dɔwɔwɔ

McArdle ƒe dɔlélea ate ŋu ana wòasesẽ be woawɔ kamedede aɖewo. Gake nya nyuiae nye be, .Woate ŋu akpɔ edzi eye mekpɔa ŋusẽ gã aɖeke ɖe wò lãmesẽ bliboa dzi o. Wò ɖɔkta awɔ dɔ kpli wò be wòadi atikewɔwɔ ƒe ɖoɖo nyuitɔ kekeake na wò.

Gbedasi si Wotsɔ Yi Aƒeme

Enyo, eyata mina míaɖo ŋku nu ʋɛ aɖewo siwo ŋu míeƒo nu tsoe siwo míesusu be wole vevie na wò dzi na wò:

McArdle dɔléle nye domenyiŋusẽfianu ƒe nɔnɔme si tsoa enzyme aɖe si kpena ɖe lãmekawo ŋu be ŋusẽ nado la ƒe anyimanɔmanɔ gbɔ.

Dzesi vevitɔwoe nye ɖeɖiteameŋu kabakaba, lãmekawo ƒe vevesese, kple ʋuʋu ne wole kame dem.

Nya nu tso kuxi sesẽ si woyɔna be `rhabdomyolysis` ŋu. Ne èkpɔ dzesi siawo la, yi ɖɔkta gbɔ enumake.

Togbɔ be atike aɖeke meli koŋ na esia o hã la, woate ŋu akpɔ edzi nyuie eye woate ŋu anɔ agbe si sɔ kple kamedede kple nuɖuɖu si sɔ.

Ne nyabiase bubu aɖewo gale asiwò ku ɖe esia ŋu la, mègahe ɖe megbe le nuƒoƒo kple wò ɖɔkta me o.

Ðo ŋku edzi be menye wò ɖeka koe o. Ne sidzedze nyuitɔ kple kpekpeɖeŋu le asiwò la, àte ŋu anɔ te ɖe nɔnɔme sia nu.

` McArdle Dɔléle, GSD5, McArdle Dɔléle, Lãmetsi Vevesese, Kamedede, Domenyiŋusẽfianu ƒe Dɔléle, Glycogen, Myophosphorylase, Rhabdomyolysis, Kamedede ƒe Mɔmaɖemaɖeɖenuŋu