Ðe lãmeka siwo le wò ŋutilã me ɖua ɣea? Ðe woʋãna abe ƒutsotsoewo enea? Mina míasrɔ̃ nu tso Rippling Muscle Disease ŋu!

Èkpɔ alo se le ɖokuiwò me kpɔ be yeƒe lãmekawo le ʋuʋum zi ɖeka, abe ɖe wole ƒutsotsoewo me yim ene, alo wo katã woƒo ƒu ɖe wo nɔewo ŋua? Ɣeaɖewoɣi la, àsusu be nu bubu aɖe koe wònye, gake le nyateƒe me la, ate ŋu anye nɔnɔme aɖe si mebɔ o gake wòle vevie be nànya nu tso eŋu ƒe dzesi. Emae nye nusi ŋu míaƒo nu tsoe egbea, Rippling Muscle Disease . Mègatsi dzi o, mina míana wòanɔ bɔbɔe.

Nukae Nye Rippling Muscle Disease?

Kpuie ko la, Rippling Muscle Disease nye dɔléle si mebɔ o si gblẽa nu le míaƒe lãmekawo kple lãmekawo ŋu. Ðɔktawo yɔe hã be ahɔhɔ̃mekawo ƒe dɔléle . Le esia me la, míaƒe lãmekawo ƒoa ƒu enuenu eye womate ŋu aɖu wo dzi o, si wɔnɛ be wosẽna eye ɣeaɖewoɣi la, wotsina akpa, si woyɔna be hypertrophy .

Zi geɖe la, dzesi siawo dzea egɔme le ɖevimenɔɣi ƒe nuwuwu alo ƒewuiwo ƒe gɔmedzedze, gake ele vevie be nàɖo ŋku edzi be nɔnɔmea ate ŋu adze ɣeaɖewoɣi le ƒe ɖesiaɖe me.

Nukae nye dɔléle sia ƒe dzesiwo? Nuka tututue le dzɔdzɔm?

Abe alesi ŋkɔa ɖee fia ene la, Rippling Muscle Disease koŋue gblẽa nu le míaƒe lãmekawo ŋu, vevietɔ lãmeka siwo te ɖe míaƒe ŋutilã ƒe titina wu (proximal muscles) . Ne míagblɔe tututu la, lãmeka siwo le míaƒe ata (quadriceps) mee wògblẽa nu le wu.

Ne (RMD) le ŋuwò la, efia be wò lãmekawo "doa dzidzɔ na ame" alo "dzidzɔna kabakaba." Esia fia be wò lãmekawo wɔa nu le mɔ si mesɔ o nu ne woka asi wo ŋu alo wozi wo dzi vie gɔ̃ hã.

Dɔléle sia ƒe dzesi siwo bɔ wue nye:

• Lãmetsiwo ƒe ƒuƒoƒo: Ne míagblɔe tututu la, wò lãmekawo ƒoa ƒu ɖe teƒe ɖeka eye wòzua abe "togbɛ" ene.
• Lãmetsiwo ƒe tete enuenu: Esia ate ŋu anɔ anyi abe sɛkɛnd 30 ene.

Zi geɖe la, dzesi siawo evea siaa dzena ne nane ƒo wò ata zi ɖeka, abe ne èdo go nane ene. Le kpɔɖeŋu me, ne èdo go ʋɔtru aɖe la, wò ata ƒe lãmeka ate ŋu asẽ eye wòasẽ zi ɖeka.

Ame siwo ŋu RMD le ƒe 60% lɔƒo kpɔa lãmekawo ƒe ʋuʋu. Esia nye lãmeka si le ʋuʋum si le abe nudzodzoe siwo le tsatsam le ŋutigbalẽa te ene. Esia xɔa abe sɛkɛnd 5 va ɖo 20 ene. Esia dzɔna zi geɖe ne èkeke lãmeka aɖe.

Dzesi bubu siwo woate ŋu akpɔ dometɔ aɖewoe nye:

• Ðeɖiteameŋu: Menye ɖeɖiteameŋu ɖeɖeko o, ke boŋ ɖeɖiteameŋu si gbɔ eme si vaa ame dzi susu aɖeke manɔmee.
• Lãmetsiwo ƒe ʋuʋu: Lãmetsiwo ƒe ʋuʋu kpata si nana ame sea veve vevie.
• Lãmetsiwo ƒe sesẽ:Esesẽna be woabɔbɔ lãa alo aɖee ɖa.

Dzesi siawo ate ŋu agblẽ ɖe edzi le kamedede sesẽ alo vuvɔ megbe. Le ame aɖewo gome la, lãmeka aɖewo ate ŋu alolo le mɔ si mesɔ o nu (hypertrophy) eye azɔlizɔzɔ ƒe atsyã ate ŋu atrɔ vie (azɔlizɔzɔ si mebɔ o) .

Ðe dɔléle sia vea amea?

Ẽ, (Rippling Muscle Disease) ate ŋu ana lãmekawo nase veve. Vevietɔ ne lãmekaa le ƒoƒom atraɖii la, vevesesea nu sẽna ɖe edzi ne enɔ anyi hena ɣeyiɣi aɖe. Azɔ hã, ne lãmekaa le ʋuʋum (cramps) vevesesea dzɔna. Bu alesi wòasesẽe ne lãmeka aɖe si le wò afɔ ŋu nɔa te sesĩe ɖaa ŋu kpɔ.

Nukae hea Rippling Muscle Disease vɛ?

Zi geɖe la, domenyiŋusẽfianu si woyɔna be CAV3, si ƒe dome míenyi tso mía dzilawo gbɔ ƒe tɔtrɔ gbɔe Rippling Muscle Disease tsona. Domenyiŋusẽfianu si nye CAV3 gblɔna na míaƒe ŋutilã be wòawɔ protein aɖe si woyɔna be caveolin-3 . Protein sia le lãkusi si ƒo xlã lãmekawo ƒe lãmenugbagbeviwo me. Numekulawo xɔe se hã be protein sia kpena ɖe ame ŋu wòɖua calcium ƒe agbɔsɔsɔ dzi, si kpena ɖe lãmekawo ŋu wòtsia henɔa kekem.

Le amesiwo ŋu RMD le gome la, tɔtrɔ si va le CAV3 domenyiŋusẽfianu me nana protein si nye caveolin-3 ƒe wɔwɔ dzi ɖena kpɔtɔna. Numekulawo xɔe se be protein ƒe anyimanɔmanɔ sia nana calcium ƒe agbɔsɔsɔ si le lãmekawo me la megawɔa ɖoɖo nyuie o. Esia wɔnɛ be lãmekaawo ƒoa xlã wo le mɔ si mesɔ o nu le esi wotutu wo alo wohe wo vie ta.

Dzɔdzɔmeŋusẽ ƒe tɔtrɔ ƒomevi vovovowo le domenyiŋusẽfianu sia (CAV3) me. Woyɔa dɔléle siwo do ƒome kple lãmenugbagbevi siwo domenyiŋusẽfianu ƒe tɔtrɔ siawo hena vɛ be (caveolinopathies) . Tsɔ kpe ɖe (RMD) ŋu la, dɔléle bubu geɖe siwo le hatsotso sia me enye:

• (Autosomal dominant limb-girdle muscular dystrophy) (si woyɔna tsã be LGMD1C) .
• (Hypertrophic cardiomyopathy) (Esia nye dzidɔ) .
• (Isolated hyperCKemia) (Nɔnɔme si me enzyme creatine kinase si le ʋua me dzina ɖe edzi) .
• (CAV3-related distal myopathy) (dɔléle si gblẽa nu le lãmeka siwo le distal extremities ŋu) .

Le nɔnɔme siawo me la, ɣeaɖewoɣi la, woate ŋu akpɔ dzesiwo abe lãmekawo ƒe tete, abe ʋuʋudedi ene, le RMD la me.

Azɔ hã, woka nya ta tso Rippling Muscle Disease ƒomevi aɖe si dɔlélenutsiŋutete ƒe dɔlélenutsiŋutete wɔna kple dɔléle si nye Myasthenia gravis ŋu. CAV3 domenyiŋusẽfianu ƒe tɔtrɔ mele ame mawo si o. Ema fia be woawo ŋutɔ ƒe dɔlélenutsiŋutete dzea lãmekawo dzi.

Aleke míewɔna nyi esia (Rippling Muscle Disease) ƒe dome?

Zi geɖe la, wonyia Rippling Muscle Disease ƒe dome le autosomal dominant ƒe ɖoɖo nu . Kpuie ko la, esia fia be àte ŋu axɔ dɔlélea ne ènyi CAV3 domenyiŋusẽfianu si wogbugbɔ trɔ la ƒe kɔpi ɖeka tso dawò alo fofowò gbɔ. Ate ŋu adzɔ ne domenyiŋusẽfianu ɖeka koe le asiwò gɔ̃ hã.

Le go siwo mebɔ o me la, woate ŋu anyi RMD ƒe dome le autosomal recessive pattern me . Esia fia be ele be nànyi CAV3 domenyiŋusẽfianu si wogbugbɔ trɔ la ƒe kɔpi eve dome, tso dawò kple fofowò siaa gbɔ.

Ame siwo ŋu Rippling Muscle Disease le le autosomal recessive form me ate ŋu akpɔ dzesi siwo nu sẽ vie wu amesiwo ŋu wòle le autosomal dominant form me.

Ƒã ŋutɔ la, RMD ate ŋu adzɔ hã le nugbagbeviwo ƒe tɔtrɔ yeyewo ta, eye ƒome ŋutinya aɖeke manɔmee. Esia fia be domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ sia ate ŋu ado mo ɖa le ame ƒe ŋutilã me zi gbãtɔ, evɔ wo dome manyi tso wo dzilawo gbɔ o.

Aleke ɖɔktawo wɔa anya Rippling Muscle Disease pɛpɛpɛ?

Ðɔktawo zãa dodokpɔ kple mɔnu siawo tsɔ dea dzesi Rippling Muscle Disease, gake menye amesiamee hiã be wòawɔ nusiawo katã o.

• Atikewɔwɔ ŋutinya: Ðɔktaa abia wò dzesiwo kple nenye be RMD alo caveolinopathies bubuwo le wò ƒomea me.
• Lãmesẽ kple ahɔhɔ̃mekawo ƒe dodokpɔ: Ðɔktaa alé ŋku ɖe wò lãmekawo ƒe nɔnɔme kple lãmekawo ƒe dɔwɔwɔ ŋu.
• Creatine kinase ʋudodokpɔ: Ne lãmekawo gblẽ la, enzyme sia (creatine kinase) dzina ɖe edzi le ʋua me.
• Electromyography (EMG): Esia doa elektrikŋusẽ si le lãmekawo me ƒe dɔwɔwɔ kpɔna.
• Muscle biopsy: Woɖea lãmeka sue aɖe hedoa eŋu le nusuekpɔmɔ̃ me.
• Dɔlékuiwutikewo dodokpɔ: Wowɔa dodokpɔ siawo be woakpɔe ɖa be (RMD) la nye autoimmune hã.
• Domenyiŋusẽfianu dodokpɔ: Esiae nye mɔ nyuitɔ si dzi woato anya ne tɔtrɔ aɖewo va le (CAV3) domenyiŋusẽfianu me.

Dodokpɔ siawo kpena ɖe ame ŋu woɖea dɔléle bubu siwo ƒe dzesiwo sɔ kple wo nɔewo ɖa eye woɖoa kpe Rippling Muscle Disease dzi.

Le dɔlélea didi me la, wò ɖɔkta ate ŋu aɖo wò ɖe eŋutinunyala bibi aɖe, abe ahɔhɔ̃ŋutinunyala alo domenyiŋusẽfianu ŋuti nunyala ene .

Nukawoe nye atike siwo wozãna na esia?

Rippling Muscle Disease dada nɔ te ɖe domenyiŋusẽfianu alo dɔlélenutsiŋutete ƒe dɔléle dzi.

Domenyiŋusẽfianu ƒe atikewɔwɔ:

Esia bia koŋ be woaɖu dzesiwo dzi eye woaɖo wo ɖe domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo . Ne vidzidɔa ƒe ʋuʋu alo eƒe ʋuʋu nu sẽ ŋutɔ la, atike aɖewo ate ŋu akpe ɖe ŋuwò. Atike mawo dometɔ aɖewoe nye:

• (Dantrolene): Esia nye lãmekawo ƒe gbɔdzɔe.
• (Calcium-mɔ̃ ƒe mɔxenuwo):Esiawo nye atike siwo xea mɔ na calcium ƒe mɔwo.
• Benzodiazepines: Esiawo nana lãmekawo ɖea dzi ɖi eye wòɖea dzimaɖitsitsi dzi kpɔtɔna.

Dɔlélenutsiŋutete ƒe atikewɔwɔ:

Woate ŋu atsɔ dɔlélenutsiŋutete ƒe dɔdamɔnu ada esia , alo ne thymoma (dɔdzẽ si le thymus gland) le ŋuwò la, woate ŋu awɔ dɔ na wò be woaɖe thymus gland la ɖa (thymectomy) .

Ðe míate ŋu axe mɔ na esia (Rippling Muscle Disease) be wòagava oa?

Esi wònye be Rippling Muscle Disease nyea domenyiŋusẽfianu zi geɖe ta la, le nyateƒe me la, naneke meli míate ŋu awɔ atsɔ axe mɔ ɖe enu o. Menye nusi dzi míate ŋu aɖu o.

Gake ne ètsi dzi ɖe afɔku si le RMD alo domenyiŋusẽfianu ƒe dɔléle bubuwo tsɔtsɔ na viwò hafi nàdzi vi ŋu la, ele vevie ŋutɔ be nàƒo nu tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo na wò ɖɔkta ŋu ale be nàte ŋu ase egɔme nyuie.

Ɣekaɣie wòle be makpɔ ɖɔkta?

• Ne wò RMD ƒe dzesiwo nu sẽ ɖe edzi , alo ne edzɔna enuenu la , kpɔ egbɔ be yeƒo nu kple wò ɖɔkta.
• Ne wokpɔ Rippling Muscle Disease le wò ƒomea me nyitsɔ laa la, bia wò ɖɔkta nenye be wò alo ƒomea me tɔ bubuwo le afɔku me be woaxɔ dɔléle sia.

Nya kawoe wòle be mabia nye ɖɔkta?

Àte ŋu akpɔe be anyo be yeabia nya siawo wò ɖɔkta:

• Nukae mate ŋu awɔ be makpɔ nye dɔlélea ƒe dzesiwo gbɔ?
• Atikewɔwɔmɔnu kae nyo nam wu?
• Ðe vinyewo ate ŋu anyi Rippling Muscle Disease ƒe dome tso gbɔnyea?
• Ðe wòle be woado nye ƒomea me tɔ bubuwo kpɔ be Rippling Muscle Disease hã le wo ŋua?

Ne èbia nya siawo la, àte ŋu ase nɔnɔme sia gɔme nyuie wu.

Ðe Rippling Muscle Disease gblẽa nu le dzia ŋua?

Rippling Muscle Disease mekpɔa ŋusẽ ɖe dzia dzi tẽ o. Gake domenyiŋusẽfianu ɖeka (CAV3) ƒe tɔtrɔ gbɔe RMD kple dzitodzito me dɔléle si lolo akpa siaa tsona, eyata kadodo aɖe le dɔléle eveawo dome. Togbɔ be ƒã ŋutɔ hã la, CAV3 domenyiŋusẽfianu ƒe tɔtrɔ ate ŋu akpɔ ŋusẽ ɖe dzitodzito kple lãmeka bubu siwo le ŋutilãa me siaa dzi. Gake ƒã ŋutɔ.

Ðe (Rippling Muscle Disease) wua amea?

Rippling Muscle Disease ŋutɔ mewua ame o. Eyae nye be, medea ame ƒe agbe afɔku me o. Ke hã, (RMD) ƒe dzesiwo abe lãmekawo ƒe tete abe flitete ene hã ate ŋu anye dɔléle bubuwo (caveolinopathies) siwo domenyiŋusẽfianu ƒe tɔtrɔ siwo míeyɔ va yi (CAV3) hena vɛ ƒe dzesi.

Le caveolinopathies dome la, autosomal dominant limb-girdle muscular dystrophy kple hypertrophic cardiomyopathy ƒe dɔléle sesẽwo ate ŋu ade ame ƒe agbe afɔku me ɣeaɖewoɣi.

Enye nusi sɔ be nàse le ɖokuiwò me be yegbɔdzɔ ne wokpɔ domenyiŋusẽfianu ƒe dɔléle aɖe le ŋuwò, vevietɔ esi mebɔ o. Gake ɖo ŋku edzi be wò atikewɔlawo ƒe ƒuƒoƒoa anɔ afima aɖe Rippling Muscle Disease me na wò, agblɔ alesi wòakpɔ ŋusẽ ɖe dziwòe na wò, eye woakpe ɖe ŋuwò nàkpɔ mɔ nyuitɔ si dzi nàto akpɔ wò dzesiawo gbɔ.

Nu vevitɔ kekeake siwo dzi wòle be woaɖo ŋkui (Take-Home Message) .

Enyo, eyata fifia èse nusi ŋu míeƒo nu tsoe (Rippling Muscle Disease) gɔme vie. Kpuie ko la:

• Rippling Muscle Disease nye lãmekawo ƒe dɔléle si mebɔ o si ƒe dzesi enye lãmekawo ƒe ʋuʋu, flitete, sesẽ, kple ƒoƒo.
• Zi geɖe la, domenyiŋusẽfianu gbɔe esia tsona (CAV3 domenyiŋusẽfianu) . Ɣeaɖewoɣi la, dɔlélenutsiŋutete ƒe dɔlélewo hã ate ŋu anɔ anyi.
• Esia menye dɔléle si wua ame o . Gake caveolinopathies bubu siwo do ƒome kplii dometɔ aɖewo ate ŋu asẽ ŋutɔ.
• Ne dzesi siawo le ŋuwò la, mègatsi dzodzodzoe eye nàdi atikewɔlawo ƒe aɖaŋuɖoɖo o . Nu vevitɔ kekeakee nye be woakpɔ dɔlélea nyuie eye woaxɔ atike kple aɖaŋuɖoɖo siwo hiã.
• Domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo ate ŋu aɖe vi ŋutɔ le nɔnɔme siawo tɔgbe me.

Ne èdi be yeanya nu geɖe tso esia ŋu, alo ne èsusu be dzesi siawo le ye ŋu la, taflatse yi ɖɔkta gbɔ. Mègavɔ̃ o, nusianu gbɔ kpɔnu li.

` Rippling Muscle Disease, lãmekawo ƒe ʋuʋu, lãmekawo ƒe ʋuʋu, CAV3 domenyiŋusẽfianu, lãmeka ƒe vevesese, domenyiŋusẽfianu ƒe dɔlélewo, autoimmune dɔlélewo