Kodi mulinso ndi minofu yofooka m'mapewa ndi m'chiuno mwanu? Tiyeni tikambirane za Limb-Girdle Muscular Dystrophy (LGMD)!

Kodi nthawi zina mumamva ngati mapewa anu, manja, kapena chiuno chanu ndi chofooka pang'ono? Kodi zimakuvutani kudzuka pampando kapena kukwera masitepe? Kodi nthawi zina mumamva ngati manja anu ndi ofooka mukanyamula chinthu cholemera? Izi sizingakhale kutopa kwakuthupi kokha. Lero tikambirana za vuto losowa koma lofunika kwambiri. Izi zimatchedwa Limb-Girdle Muscular Dystrophy , kapena mwachidule LGMD .

Kodi Limb-Girdle Muscular Dystrophy (LGMD) ndi chiyani?

Mwachidule, matenda a Limb-Girdle Muscular Dystrophy ndi mawu ofala a gulu la matenda obadwa nawo omwe pang'onopang'ono amafooketsa minofu ina m'thupi lathu. Ndi matenda osatha , kutanthauza kuti amatha kukhala moyo wonse. Angakhudze aliyense wa msinkhu uliwonse.

"Zingwe zomangira" ndi mafupa ozungulira mapewa ndi chiuno chathu. Monga momwe zimalumikizirana ndi manja ndi miyendo yathu ndi thupi lathu. Chifukwa chake mu mkhalidwe uwu wa ``(LGMD)``, minofu yogwirizana ndi madera awa a mapewa ndi chiuno imakhudzidwa kwambiri.

Mwina munamvapo mawu akuti "muscular dystrophy." Amatanthauza gulu la majini omwe amakhudza ntchito ya minofu. Mu mitundu yambiri ya "muscular dystrophy," zizindikirozo zimakula pang'onopang'ono pakapita nthawi.

Kodi vuto limeneli lotchedwa LGMD ndi lofala bwanji?

Ndipotu, `(Limb-Girdle Muscular Dystrophy)` ndi matenda osowa kwambiri . Tangoganizani, m'dziko ngati America, mukaphatikiza mitundu yonseyi ya `(LGMD)`, imakhudza anthu awiri okha pa anthu 100,000. Ngati muyerekeza ndi `(Duchenne muscular dystrophy)` yomwe timaidziwa ndikukambirana zambiri (iyi ndi mtundu wa `muscular dystrophy`), imakhudza pafupifupi mnyamata m'modzi mwa anyamata 3600 ku America. Chifukwa chake `(LGMD)` sichimafala kwambiri kuposa pamenepo.

Pakati pa mitundu iyi ya `(LGMD)`, mtundu wofala kwambiri ku United States ndi `(LGMD R1 calpain3-related)`. Izi zimatchedwanso `(calpainopathy)`. Pakati pa 12% ndi 30% ya odwala onse a `(LGMD)` ndi a mtundu uwu.

Kodi ndi zizindikiro ziti zomwe timaziona?

Zizindikiro zazikulu za Limb-Girdle Muscular Dystrophy ndi kufooka kwa minofu ndi kuchepa kwa minofu kapena kufooka kwa minofu . Izi zimakhudza makamaka:

• Kumapewa
• Kwa manja apamwamba (gawo la mkono wathu kuyambira paphewa mpaka pachigongono)
• Kumalo a m'chiuno
• Kwa ntchafu (gawo la miyendo yathu kuyambira m'chiuno mpaka bondo)

Zaka zomwe zizindikiro zimayambira, komanso momwe zizindikirozi zimakulira mofulumira, zimatha kusiyana kuchokera ku mtundu wina wa LGMD kupita ku wina.

Zizindikiro zoyamba za vutoli ndi kuvutika kuyenda . Mwachitsanzo:

• Kuyenda movutikira kungayambike, monga momwe bakha amayendera movutikira .
• Kuchokera pa malo okhala, monga mpando kapena mpando wa chimbudziN'zovuta kudzuka .
• Kuvuta kukwera masitepe .

Komanso, pamene minofu ya m'mapewa ndi m'manja apamwamba yafooka, zinthu ngati izi zingachitike:

• Kuvuta kufikira pamwamba pa mutu . Taganizirani ngati kuchotsa chinthu pa shelufu.
• N'zovuta kutambasula manja anu patsogolo panu .
• Kulephera kunyamula zinthu zolemera .
• Anthu ena angavutike kugwiritsa ntchito manja awo ngakhale podya .

Mitundu ina ya LGMD ingakhale ndi makhalidwe ena kuwonjezera pa izi. Zina mwa izo ndi izi:

• Mavuto a mtima : Mwachitsanzo, zinthu monga kufooka kwa minofu ya mtima (cardiomyopathy), kusayenda bwino kwa kayendedwe ka mtima, kapena arrhythmias.
• Kuvuta kupuma .
• Kuvuta kumeza chakudya (dysphagia) .
• Kupindika , zomwe zikutanthauza kuvutika kupindika ndi kumasula malo olumikizirana mafupa.
• Kupweteka kwa minofu .
• Kuchuluka kwa minofu : Nthawi zina, ngakhale minofuyo ili yofooka, imatha kuoneka yayikulu kuchokera kunja.
• Kufooka kwa minofu yakutali, monga manja ndi miyendo .

Kodi izi zingayambitse mavuto aakulu?

Inde, nthawi zina LGMD ingayambitse mavuto ena. Koma sizili zofanana kwa aliyense. Pali zinthu zingapo zomwe zingakhudze izi:

• Kodi muli ndi mtundu wanji wa `(LGMD)`?
• Kodi zizindikiro zinayamba pa msinkhu uti ndipo matendawa amakula mofulumira bwanji?
• Kodi muli ndi malo abwino osamalira matenda ndi chithandizo cha zizindikiro?

Zina mwa zovuta zomwe zingatheke ndi izi:

• Ngati LGMD imayamba ali mwana, ingayambitse kuchedwa kwa luso loyendetsa thupi monga kuyenda .
• Mitundu ina ingayambitse mavuto a m'maganizo ndi kuphunzira .
• Matenda a Kyphosis ndi/kapena scoliosis amatha kuoneka, makamaka mu LGMD yomwe imayamba ali mwana.
• Kugwira ntchito kwa mapapo kumatha kusokonekera, zomwe zimapangitsa kuti mapapo azikhala ndi matenda oletsa kupuma , mwina kulephera kupuma bwino kapena kulephera kupuma bwino .
• Kusadya bwino kungachitike chifukwa cha kuvutika kudya ndi kumeza.

Chifukwa chiyani izi zikuchitika? Chifukwa chake ndi chiyani?

Chifukwa chachikulu cha Limb-Girdle Muscular Dystrophy ndi kusintha kwa majini.Majini amenewa ali ndi udindo wosunga kapangidwe ka minofu ndi ntchito yabwino. Choncho pakachitika kusintha kwa majini amenewa, maselo omwe akuyenera kusunga minofu sangathe kuchita bwino ntchitoyo. Zotsatira zake, minofu imafooka pang'onopang'ono pakapita nthawi. Pali kusintha kwa majini komwe kumakhudzana ndi mtundu uliwonse wa `(LGMD)`.

Kusintha kwa majini kumeneku kumachokera kwa makolo athu. LGMD imagawidwa m'magulu awiri akuluakulu, kutengera momwe majini amabadwira:

• Gulu D la LGMD : Izi zimachitika m'njira yotchedwa ``autosomal dominant inheritance``. Izi zikutanthauza kuti kusintha kwa majini komwe kumayambitsa matendawa kumatha kuchitika ngakhale kholo limodzi lokha ndilo litenga nawo mbali.
• Gulu la LGMD R : Izi zimachitika mu dongosolo lotchedwa ``autosomal recessive inheritance``. Izi zikutanthauza kuti kusintha kwa majini komwe kumayambitsa matendawa kuyenera kutengera kwa makolo onse awiri.

Kodi pali mitundu yosiyanasiyana ya LGMD?

Inde, pali mitundu ingapo ya `(Limb-Girdle Muscular Dystrophy)`. Ofufuza ndi madokotala amagwiritsa ntchito kapangidwe kapadera ka mayina kuti apereke mitundu iyi. Ili ndi zilembo "LGMD" ndi zinthu zina zingapo:

• Momwe majini amabadwira : Chilembo "D" chimayimira `(autosomal dominant inheritance)`. Chilembo "R" chimayimira `(autosomal recessive inheritance)`.
• Ndondomeko ya kupezeka : Ofufuza amapatsa mitundu iyi nambala motsatira momwe idapezedwera.
• Puloteni kapena jini yokhudzidwa : Izi zikuwonetsedwa ngati "[jini kapena dzina la puloteni]-yogwirizana". Mwachitsanzo, `(yokhudzana ndi calpain3)`.

Pali mitundu ingapo ya izi. N'zovuta kufotokoza chilichonse, kotero sitifotokoza mwatsatanetsatane. Koma dokotala wanu angakuuzeni zambiri za izi.

Kodi madokotala amazindikira bwanji izi?

Ngati inu kapena mwana wanu mukukayikira kuti muli ndi zizindikiro za Limb-Girdle Muscular Dystrophy, dokotala mwina adzachita mayeso a thupi , mayeso a mitsempha , ndi mayeso a minofu . Adzakufunsani za zizindikiro zanu komanso ngati pali aliyense m'banja mwanu amene wakhalapo ndi matendawa.

Ngati mukuganiza kuti muli ndi LGMD, mayeso amodzi kapena angapo otsatirawa angakulimbikitseni:

• Kuyezetsa magazi kwa Creatine kinase : Minofu ikawonongeka, enzyme yotchedwa ``creatine kinase`` imatulutsidwa m'magazi. Chifukwa chake ngati kuchuluka kwake kwakwera, kungakhale chizindikiro cha vuto lotchedwa ``muscular dystrophy```.
• Mayeso a majini : Mayesowa amatha kuzindikira kusintha kwa majini komwe kumakhudzana ndi mitundu ina ya LGMD. Iyi ndiyo njira yokhayo yotsimikizira mtundu wa LGMD womwe muli nawo .
• Kufufuza minofuIzi zikuphatikizapo kutenga chitsanzo cha minofu yanu ndikupeza katswiri akuiyang'ana pansi pa maikulosikopu. Izi zingakuthandizeni kudziwa ngati muli ndi zizindikiro za muscular dystrophy.
• Electromyography (EMG) : Kuyesa kumeneku kumayesa ntchito yamagetsi ya minofu ndi mitsempha.

Ngati inu kapena mwana wanu mwapezeka ndi matenda a LGMD, dokotala wanu nthawi zambiri amalamula kuti muyesedwe matenda a mtima ndi mapapo kuti muwone momwe mtima ndi mapapo anu akugwirira ntchito. Ndikofunikira kudziwa ngati vutoli lakhudzanso ziwalo zimenezo.

Kodi mankhwala ake ndi otani?

Mwatsoka, pakadali pano palibe mankhwala a Limb-Girdle Muscular Dystrophy, koma ofufuza akupitilizabe kugwira ntchito pa izi.

Cholinga chachikulu cha mankhwala omwe alipo pano ndikuthandizira kuthana ndi zizindikiro ndikukweza moyo wabwino . Njira zochiritsira zimatha kusiyana kutengera mtundu wa LGMD womwe muli nawo. Zina mwa izo ndi izi:

• Mankhwala olimbitsa thupi ndi ntchito : Izi zimathandiza kwambiri kulimbitsa minofu ndi kuchita masewera olimbitsa thupi otambasula. Zimakuthandizani kupeza njira zochitira ntchito za tsiku ndi tsiku mosavuta komanso kusunga kuyenda bwino.
• Corticosteroids : Mankhwala a Corticosteroids monga prednisolone ndi deflazacort angathandize kuchepetsa kufooka kwa minofu, kukonza magwiridwe antchito a mapapo, kuchepetsa ululu wa msana, komanso kuchepetsa kupita patsogolo kwa matenda a mtima. Komabe, sagwira ntchito pa mitundu yonse ya matenda a LGMD. Ndi othandiza makamaka pa mitundu ina, monga yokhudzana ndi LGMD R9 FKRP.
• Zipangizo zothandizira kuyenda : Zipangizo monga ndodo, zogwirira, zoyendera, ndi mipando ya olumala zimathandiza kuyenda ndi kuyenda mosavuta, zimathandiza kupewa kugwa, komanso zimathandiza kuchepetsa kutopa.
• Opaleshoni : Odwala ena a LGMD angafunike opaleshoni kuti achepetse kupsinjika kwa minofu yolimba ndikukonza scoliosis.
• Chisamaliro cha kupuma : Zipangizo zothandizira chifuwa ndi zopumira zingathandize kuti kupuma kukhale kosavuta. Ngati kupuma kwalephera kwambiri, tracheostomy (kuboola dzenje pakhosi kuti lithandize kupuma) ndi thandizo la mpweya wabwino zingafunike.
• Chisamaliro cha mtima : Mankhwala monga ACE inhibitors ndi/kapena beta-blockers, ngati ayambitsidwa msanga, amatha kuchepetsa kukula kwa matenda a mtima ndikuletsa kukula kwa kulephera kwa mtima. Othandizira pacemaker angathandize kuchiza mavuto a mtima ndi kulephera kwa mtima.
• Chithandizo cha kulankhula: Chithandizochi chingakhale chothandiza kwa iwo omwe ali ndi vuto lomeza.
• Mayeso azachipatala : Kutengera mtundu wa LGMD yomwe muli nayo komanso komwe mumakhala, mutha kukhalanso ndi mwayi wochita nawo mayeso atsopano azachipatala. Pali mayeso ambiri azachipatala omwe akuchitika pakali pano a LGMD.

Gulu la akatswiri nthawi zambiri limafunika kuti liyang'anire LGMD, kwa inu ndi mwana wanu. Izi zitha kuphatikizapo akatswiri a mitsempha, akatswiri a physiatrists, akatswiri a majini, akatswiri a mafupa, akatswiri a physical therapists, akatswiri a occupational therapists, akatswiri a mtima, akatswiri a pulmonologists, akatswiri a zamaganizo, ndi ogwira ntchito zachitukuko.

Kodi chiyembekezo cha munthu amene ali ndi LGMD ndi chotani?

N'zovuta kwa ofufuza ndi madokotala kunena bwino lomwe zomwe zidzachitike kwa munthu amene ali ndi matenda a LGMD. Koma gulu lanu lachipatala lidzakupatsani zambiri momwe mungathere zokhudza zomwe mungayembekezere.

Kawirikawiri, ngati LGMD imayamba ali mwana, matendawa amakula mofulumira ndipo mavuto amatha kuchitika . Komabe, ngati LGMD imayamba ali mwana kapena ali wamkulu, nthawi zambiri imakhala yochepa kwambiri ndipo matendawa amakula pang'onopang'ono .

Kodi mungakhale ndi izi kwa nthawi yayitali bwanji?

Nthawi yapakati ya moyo wa munthu amene ali ndi matenda a LGMD imadalira kwambiri mtundu wa matenda a LGMD omwe ali nawo komanso momwe amakulira mofulumira . Kawirikawiri, anthu omwe ali ndi matenda a LGMD omwe amakumana ndi mavuto, monga matenda a mtima ndi kupuma movutikira, amatha kukhala ndi moyo wautali kuposa omwe alibe mavuto otere.

Kodi pali njira yopewera izi?

Popeza Limb-Girdle Muscular Dystrophy ndi matenda obadwa nawo, pakadali pano palibe chomwe chingachitike kuti chipewedwe .

Ngati mukukonzekera kukhala ndi ana ndipo mukuda nkhawa kuti mwina mukupatsira matenda a LGMD kapena matenda ena a majini, ndi bwino kulankhula ndi dokotala wanu za upangiri wa majini .

Ngati muli ndi matenda a LGMD, pali zinthu zingapo zomwe mungachite kuti mupewe kapena kuchedwetsa mavuto ndikukweza moyo wanu:

• Idyani chakudya chabwino komanso chopatsa thanzi kuti mupewe kusowa zakudya m'thupi.
• Imwani madzi ambiri kuti mupewe kutaya madzi m'thupi komanso kudzimbidwa.
• Chitani masewera olimbitsa thupi opepuka mpaka apakati monga momwe gulu lanu lachipatala limalangizira.
• Khalani ndi kulemera koyenera .
• Pewani kusuta fodya kuti muteteze mapapo ndi mtima wanu.
• Pezani katemera pa nthawi yake .

Kodi ndimasamalira bwanji munthu amene ali ndi matenda a LGMD? Kapena nditani ndikakhala nawo?

Ngati muli ndi matenda a Limb-Girdle Muscular Dystrophy, kapena ngati mukusamalira munthu amene ali ndi matendawa, ndikofunikira kulimbikitsa ndikupeza chithandizo chabwino kwambiri chamankhwala . Kuchita zimenezi kudzakuthandizani kukhala ndi moyo wabwino kwambiri.

Inu ndi banja lanu mungathenso kulowa nawo m'magulu othandizira . Izi zikupatsani mwayi wokumana ndi anthu ena omwe adakumanapo ndi zinthu zomwezo monga inu, kulankhula nawo, ndikugawana malingaliro. Zidzakhala gwero lalikulu la mphamvu.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati muli ndi Limb-Girdle Muscular Dystrophy, muyenera kupita ku gulu lanu lachipatala nthawi zonse kuti mukalandire chithandizo ndikuyang'anira zizindikiro zanu.

Kumvetsetsa matenda anu a Limb-Girdle Muscular Dystrophy (LGMD) kungakhale kovuta kwambiri. Koma gulu lanu lachipatala lingakuthandizeni kupanga dongosolo loyang'anira lomwe likugwirizana ndi zizindikiro zanu. Chofunika kwambiri ndikuwonetsetsa kuti mwalandira chithandizo chomwe mukufuna ndikukhalabe osamala pa thanzi lanu . Kumbukirani kuti gulu lanu lachipatala limakhalapo nthawi zonse kuti likuthandizeni inu ndi banja lanu.

Pomaliza, zinthu zoti muzikumbukira

Matenda a Minofu a Limb-Girdle (LGMD) ndi matenda a majini omwe amafooketsa minofu m'mapewa ndi m'chiuno pang'onopang'ono. Ngakhale kuti ndi matenda osowa, ndikofunikira kudziwa zizindikiro zake.

• Zizindikiro zazikulu : Kufooka kwa minofu m'mapewa, m'manja apamwamba, m'chiuno, ndi m'ntchafu, kuvutika kuyenda, komanso kulephera kunyamula zolemera.
• Chifukwa : Kusiyana kwa majini.
• Chithandizo : Pakadali pano palibe mankhwala. Cholinga chake ndikuwongolera zizindikiro ndikukweza moyo. Kuchiza thupi, chithandizo cha ntchito, ndipo, ngati kuli kofunikira, mankhwala ndi zipangizo ndizofunikira.
• Chofunika kwambiri : kupeza matenda msanga, upangiri woyenera wa zachipatala ndi chithandizo. Thandizo la mabanja ndi magulu othandizira nawonso ndi ofunikira kwambiri.

Ngati muli ndi mafunso ena okhudza izi, musaope kulankhula ndi dokotala wanu. Adzakuthandizani.

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