Ese ufite imitsi idakomeye mu bitugu no mu kibuno? Reka tuvuge kuri Limb-Girdle Muscular Dystrophy (LGMD)!

Ese hari igihe wumva amatugu yawe, amaboko yawe, cyangwa ikibuno cyawe binaniwe gato? Ese bikugora kuva ku ntebe cyangwa kuzamuka ingazi? Ese hari igihe wumva amaboko yawe ananiwe iyo uteruye ikintu kiremereye? Ibi bishobora kuba atari umunaniro w'umubiri gusa. Uyu munsi tugiye kuvuga ku ndwara idasanzwe ariko ikomeye cyane. Iyi ndwara yitwa Limb-Girdle Muscular Dystrophy , cyangwa mu magambo ahinnye ya LGMD .

Kurwara kw'imitsi mu kibuno n'amaguru (LGMD) ni iki?

Mu magambo make, indwara ya Limb-Girdle Muscular Dystrophy ni ijambo rusange risobanura itsinda ry'indwara zivukanwa zigenda zigabanya intege zimwe na zimwe mu mibiri yacu. Ni indwara idakira , bivuze ko ishobora kumara ubuzima bwose. Ishobora kwibasira umuntu uwo ari we wese w'imyaka iyo ari yo yose.

"Imikandara y'amaguru" ni amagufwa akikije ibitugu byacu n'ikibuno. Kimwe n'ingingo zihuza amaboko n'amaguru yacu n'umubiri wacu. Muri ubu burwayi bwa "(LGMD)", imitsi ijyanye n'ibi bice by'ibitugu n'ikibuno ikunze kwibasirwa cyane.

Ushobora kuba warumvise ijambo "muscular dystrophy." Rivuga itsinda ry'indwara ziterwa n'uturemangingo zigira ingaruka ku mikorere y'imitsi. Mu bwoko bwinshi bwa "muscular dystrophy", ibimenyetso bigenda birushaho kwiyongera uko igihe kigenda gihita.

Iyi ndwara yitwa LGMD ikunze kugaragara gute?

Mu by’ukuri, `(Limb-Girdle Muscular Dystrophy)` ni indwara idakunze kugaragara . Tekereza gato, mu gihugu nka Amerika, iyo uteranyije ubwo bwoko bwose bwa `(LGMD)`, bwibasira abantu bagera kuri babiri gusa ku bantu ibihumbi ijana. Iyo ubigereranyije na `(Duchenne muscular dystrophy)` tuzi kandi tukavugaho byinshi (iyi nayo ni ubwoko bwa `muscular dystrophy`), yibasira umuhungu umwe mu bahungu 3600 muri Amerika. Rero `(LGMD)` ntabwo ikunze kugaragara cyane nk'ibyo.

Muri ubwo bwoko bwa `(LGMD)`, ubwoko bukunze kugaragara cyane muri Leta Zunze Ubumwe za Amerika ni `(LGMD R1 calpain3-related)`. Ibi kandi byitwa `(calpainopathy)`. Hagati ya 12% na 30% by'abarwayi bose `(LGMD)` bakomoka muri ubwo bwoko.

Ni ibihe bimenyetso tubona?

Ibimenyetso by'ingenzi bya Limb-Girdle Muscular Dystrophy ni intege nke z'imitsi no gutakaza imitsi cyangwa kugabanuka kw'imitsi . Ibi bigira ingaruka cyane cyane kuri ibi bikurikira:

• Kugeza ku bitugu
• Ku maboko yo hejuru (igice cy'ukuboko kwacu kuva ku rutugu kugeza ku nkokora)
• Kugera mu gice cy'ikibuno
• Ku bibero (igice cy'amaguru yacu kuva ku kibuno kugeza ku ivi)

Imyaka ibimenyetso bitangira, ndetse n'uburyo ibi bimenyetso bikura vuba, bishobora gutandukana bitewe n'ubwoko bwa LGMD.

Ibimenyetso bya mbere by'iyi ndwara ni ukugorwa no kugenda . Urugero:

• Ingendo yo kuzenguruka ishobora kubaho, isa n'ingendo y'igishuhe .
• Kuva aho wicara, nko mu ntebe cyangwa mu bwihereroBiragoye kubyuka .
• Kugorana kuzamuka ingazi .

Nanone, iyo imitsi yo mu bitugu no mu maboko yo hejuru icitse intege, ibintu nk'ibi bishobora kubaho:

• Kugorwa no kugera hejuru y'umutwe . Tekereza nko gukura ikintu ku gipangu.
• Biragoye kurambura amaboko yawe imbere yawe .
• Kudashobora guterura ibintu biremereye .
• Hari abantu bashobora kugorwa no gukoresha amaboko yabo ndetse no kurya .

Hari ubwoko bwa LGMD bushobora kugira ibindi bintu byiyongera kuri ibi. Bimwe muri byo birimo:

• Ingorane z'umutima : Urugero, ibintu nk'intege nke z'imitsi y'umutima (cardiomyopathy), ibibazo byo kuyobora umuvuduko w'amaraso, cyangwa arrhythmia.
• Kugorwa no guhumeka .
• Kugorwa no kumira ibiryo (dysphagia) .
• Guhagarara , bivuze ko ingingo zigorana kunama no gufunguka.
• Kubabara imitsi .
• Hypertrophy y'imitsi : Hari igihe, nubwo imitsi iba idakomeye, ishobora kugaragara nk'inini inyuma.
• Intege nke mu mitsi yo mu gice cyo hagati cy'umubiri, nko mu maboko no mu maguru .

Ese ibi bishobora guteza ingorane zikomeye?

Yego, rimwe na rimwe LGMD ishobora guteza ingorane zimwe na zimwe. Ariko si kimwe kuri buri wese. Hari ibintu byinshi bishobora kuyigiraho ingaruka:

• Ni ubuhe bwoko bwa `(LGMD)` ufite?
• Ibimenyetso byatangiye ku kigero kingana iki n'uburyo indwara ikomeza kwihuta.
• Ufite ubuvuzi bwiza kandi ukanavura ibimenyetso.

Zimwe mu ngorane zishobora guterwa n'iki kibazo ni izi:

• Iyo LGMD itangiye mu bwana, ishobora gutera gutinda mu bushobozi bwo kugenda no kuruhuka .
• Hari ubwoko bumwe na bumwe bushobora gutera ubumuga bwo mu mutwe n'ingorane mu myigire .
• Kyphosis na/cyangwa scoliosis bishobora kugaragara, cyane cyane muri LGMD itangira mu bwana.
• Imikorere y'ibihaha ishobora kwangirika, bigatera indwara z'ibihaha zidakora neza , wenda kubura uburyo bwo guhumeka cyangwa kunanirwa guhumeka .
• Imirire mibi ishobora guterwa no kugorwa no kurya no kumira.

Kuki ibi bibaho? Impamvu ni iyihe?

Impamvu nyamukuru itera indwara ya Limb-Girdle Muscular Dystrophy ni impinduka mu miterere y’uturemangingo.. Izi gene zishinzwe kubungabunga imiterere n'imikorere y'imitsi. Rero iyo habayeho impinduka muri izi gene, uturemangingo twagombaga kubungabunga imitsi ntidushobora gukora ako kazi neza. Kubera iyo mpamvu, imitsi igenda icika intege buhoro buhoro uko igihe kigenda gihita. Hariho impinduka zihariye za gene zijyanye na buri bwoko bwa `(LGMD)`.

Izi mpinduka mu ngirabuzimafatizo ziragwa n'ababyeyi bacu. LGMD igabanyijemo ibyiciro bibiri by'ingenzi, bitewe n'uburyo ngirabuzimafatizo zizungurwa:

• Itsinda rya LGMD D : Ibi bibaho mu buryo bwitwa "autosomal dominant inheritance." Ibi bivuze ko ihinduka ry’uturemangingo ritera iyi ndwara rishobora kubaho nubwo umubyeyi umwe gusa ari we uyiraze.
• Itsinda rya LGMD R : Ibi bibaho mu buryo bwitwa ``autosomal recessive inheritance``. Ibi bivuze ko ihinduka ry’uturemangingo ritera indwara rigomba kuragwa n’ababyeyi bombi.

Ese hari ubwoko butandukanye bwa LGMD?

Yego, hari ubwoko bwinshi bwa `(Limb-Girdle Muscular Dystrophy)`. Abashakashatsi n'abaganga bakoresha imiterere yihariye yo kwita amazina kugira ngo bashyire mu byiciro ubwo bwoko. Bugizwe n'inyuguti "LGMD" n'ibindi bintu bike:

• Uburyo ingirabuzimafatizo zivuka : Inyuguti "D" isobanura `(autosomal dominant inheritance)`. Inyuguti "R" isobanura `(autosomal recessive inheritance)`.
• Uko ibintu byavumbuwe bikurikirana : Abashakashatsi baha izi nkomoko umubare ukurikije uko zavumbuwe.
• Poroteyine cyangwa gene byagize ingaruka : Ibi bigaragazwa nk'"bifitanye isano na gene cyangwa izina rya poroteyine". Urugero, `(bifitanye isano na calpain3)`.

Hari ubwoko butandukanye bw'ibi. Biragoye gusobanura buri kimwe, bityo ntabwo tuzabivugaho birambuye. Ariko muganga wawe ashobora kukubwira byinshi kuri ibi.

Abaganga babibona bate?

Niba wowe cyangwa umwana wawe mukekwaho kugira ibimenyetso bya Limb-Girdle Muscular Dystrophy, muganga ashobora kugukorera isuzuma ry’umubiri , isuzuma ry’imitsi , n’isuzuma ry’imitsi . Bazakubaza ibimenyetso byawe ndetse niba hari umuntu wo mu muryango wawe wigeze kugira ibi bibazo.

Niba ukeka ko ufite LGMD, kimwe cyangwa byinshi muri ibi bikurikira bishobora kukugira inama:

• Ikizamini cy'amaraso ya Creatine kinase : Enzyme yitwa ``creatine kinase'' irekurwa mu maraso iyo imitsi yangiritse. Rero niba urugero rwayo ruri hejuru, bishobora kuba ikimenyetso cy'indwara yitwa ``muscular dystrophy.''
• Ibizamini bya genetiki : Ibi bizamini bishobora kugaragaza impinduka za genetiki zijyanye na zimwe mu ngirabuzimafatizo za LGMD. Ubu ni bwo buryo bwonyine bwo kwemeza neza ubwoko bwa LGMD ufite .
• Kuvura imitsi: Ibi bikubiyemo gufata urugero ruto rw'imitsi yawe no gusaba inzobere kuyisuzuma hifashishijwe mikorosikopi. Ibi bishobora gufasha kumenya niba ufite ibimenyetso bya dystrophy y'imitsi.
• Electromyography (EMG) : Iki kizamini gipima imikorere y'amashanyarazi y'imitsi n'imitsi.

Iyo wowe cyangwa umwana wawe musanzwe murwaye indwara ya LGMD, muganga wawe akunze gutumiza ibizamini by'umutima n'ibihaha kugira ngo arebe uko umutima n'ibihaha byawe bikora. Ni ngombwa kumenya niba iyo ndwara yaragize ingaruka kuri izo ngingo.

Ni ubuhe buryo bwo kuvura?

Ikibabaje ni uko nta muti uhari wa Distrophy y’Imitsi y’Amaboko n’Amaboko, ariko abashakashatsi bakomeje kuwukoraho.

Intego nyamukuru y'ubuvuzi buriho ubu ni ukugufasha gucunga ibimenyetso no kunoza ubuzima bwawe . Uburyo bwo kuvura bushobora gutandukana bitewe n'ubwoko bwa LGMD ufite. Bumwe muri bwo burimo:

• Uburyo bwo kuvura umubiri n'ubukora : Ibi bifasha cyane cyane gukomeza imitsi no gukora imyitozo ngororamubiri. Bigufasha kubona uburyo bwo gukora imirimo ya buri munsi byoroshye no gukomeza kugenda.
• Corticosteroids : Corticosteroids nka prednisolone na deflazacort ishobora gufasha kugabanya intege nke z'imitsi, kunoza imikorere y'ibihaha, kugabanya ububabare bw'umugongo, no kugabanya iterambere ry'indwara y'umutima. Ariko, ntabwo ikora ku bwoko bwose bwa LGMD. Ifasha cyane cyane ubwoko bumwe na bumwe, nka LGMD R9 FKRP-related.
• Ibikoresho byo kwifashisha mu kugenda : Ibikoresho nk'inkoni, ibyuma bifasha mu kugenda, abagenda n'abamugaye bituma kugenda no kugenda byoroha, bifasha kwirinda kugwa, kandi bigafasha kugabanya umunaniro.
• Kubagwa : Bamwe mu barwayi ba LGMD bashobora gukenera kubagwa kugira ngo bagabanye imitsi ifunganye kandi bakosore scoliosis.
• Kwita ku guhumeka : Ibikoresho bifasha mu gukorora n'imiti ifasha mu guhumeka bishobora gufasha mu koroshya guhumeka. Iyo habayeho kunanirwa gukomeye mu guhumeka, tracheostomy (gukora umwobo mu ijosi kugira ngo ifashe guhumeka) no gufasha guhumeka bishobora gukenerwa.
• Kwita ku mutima : Imiti nka ACE inhibitors cyangwa beta-blockers, iyo itangiye hakiri kare, ishobora kugabanya iterambere ry’umutima no gukumira indwara y’umutima. Imashini zikora pacemaker zishobora gufasha kuvura ibibazo by’umutima n’umutima unanirwa.
• Ubuvuzi bwo kuvuga: Ubu buvuzi bushobora kugirira akamaro abafite ikibazo cyo kumira.
• Igeragezwa ry'ubuvuzi : Bitewe n'ubwoko bwa LGMD ufite n'aho utuye, ushobora no kugira amahirwe yo kwitabira igerageza rishya ry'ubuvuzi. Hari umubare munini w'igeragezwa ry'ubuvuzi riri gukorwa kuri LGMD.

Itsinda ry'inzobere rikunze gukenerwa kugira ngo ricunge LGMD, haba kuri wowe no ku mwana wawe. Aba bashobora kuba barimo abaganga b'indwara z'imitsi, abaganga b'imitsi, abahanga mu by'uturemangingo, abaganga b'amagufwa, abaganga b'imitsi, abaganga b'inzobere mu by'ubuzima, abaganga b'indwara z'umutima, abaganga b'indwara z'imitsi, abahanga mu by'imitekerereze n'imibanire y'abantu, n'abakozi bashinzwe imibereho myiza y'abaturage.

Ni iki cyizere cy’umuntu urwaye LGMD?

Biragoye ku bashakashatsi n'abaganga kuvuga neza uko bizagenda ku muntu urwaye LGMD. Ariko itsinda ry'abaganga rizaguha amakuru menshi ashoboka ku byo witeze.

Muri rusange, iyo LGMD itangiye mu bwana, iyi ndwara irushaho kwiyongera vuba kandi ingorane zishobora kubaho . Ariko, iyo LGMD itangiye mu bwana cyangwa mu bwana, akenshi iba idakomeye cyane kandi iyi ndwara igenda buhoro buhoro .

Ushobora kumarana iki gihe kingana iki n'iki?

Imyaka yo kubaho y’umuntu urwaye LGMD iterwa ahanini n’ubwoko bwa LGMD afite n’uburyo yihuta . Muri rusange, abantu barwaye LGMD bahura n’ibibazo, nk’indwara z’umutima n’ibibazo byo guhumeka, bashobora kubaho igihe gito ugereranyije n’abadafite ibyo bibazo.

Ese hari uburyo bwo gukumira ibi?

Kubera ko indwara ya Limb-Girdle Muscular Dystrophy ari indwara iterwa n’uturemangingo, nta cyakorwa ngo iyirinde .

Niba uteganya kubyara kandi ukaba uhangayikishijwe n'uko ushobora kuba wanduza LGMD cyangwa izindi ndwara zikomoka ku ngirabuzimafatizo, ni byiza kuganira na muganga wawe ku bijyanye n'ubujyanama ku ngirabuzimafatizo .

Niba ufite LGMD, hari ibintu byinshi ushobora gukora kugira ngo wirinde cyangwa utinze ingorane no kunoza ubuzima bwawe:

• Kurya indyo nziza kandi ifite intungamubiri kugira ngo wirinde imirire mibi.
• Nywa amazi menshi kugira ngo wirinde umwuma cyangwa impatwe.
• Kora imyitozo ngororamubiri yoroheje kugeza ku iringaniye nk'uko byasabwe n'ikipe y'abaganga bawe.
• Komeza kugira ibiro bizima .
• Irinde kunywa itabi kugira ngo urinde ibihaha byawe n'umutima wawe.
• Bakira inkingo ku gihe .

Nigute nakwita ku muntu urwaye LGMD? Cyangwa se ninkora iki iyo nyifite?

Niba ufite indwara ya Limb-Girdle Muscular Dystrophy, cyangwa niba wita ku muntu uyirwaye, ni ngombwa gukora ubuvugizi no gushaka ubuvuzi bwiza bushoboka . Kubikora bizagufasha kugumana ubuzima bwiza bushoboka.

Wowe n'umuryango wawe mushobora kandi kwinjira mu matsinda yo gushyigikirana . Ibi bizaguha amahirwe yo guhura n'abandi bantu bahuye n'ibintu nk'ibyawe, kuganira na bo no gusangira ibitekerezo. Bizaba isoko ikomeye y'imbaraga.

Ni ryari ngomba kujya kwa muganga?

Niba ufite indwara ya Limb-Girdle Muscular Dystrophy, ugomba kujya kwa muganga buri gihe kugira ngo baguhe ubuvuzi kandi bakurikirane ibimenyetso byawe.

Gusobanukirwa indwara ya Limb-Girdle Muscular Dystrophy (LGMD) bishobora kugutera ubwoba. Ariko itsinda ry’abaganga rishobora kugufasha gutegura gahunda yo kwitabwaho ijyanye n’ibimenyetso byawe. Ikintu cy’ingenzi ni ukumenya neza ko ubona ubufasha ukeneye no gukomeza kwita ku buzima bwawe . Wibuke ko itsinda ry’abaganga rihora rihari kugira ngo rigufashe wowe n’umuryango wawe.

Amaherezo, ibintu byo kwibuka

Kurwara kw'imitsi mu kibuno no mu maguru (LGMD) ni indwara iterwa n'uturemangingo tw'umubiri igabanya intege z'imitsi mu bice by'urutugu no mu kibuno. Nubwo ari indwara idakunze kugaragara, ni ngombwa kumenya ibimenyetso byayo.

• Ibimenyetso by'ingenzi : Intege nke z'imitsi mu bitugu, mu maboko yo hejuru, mu matako no mu bibero, kugorwa no kugenda, no kudashobora guterura ibyuma biremereye.
• Impamvu : Itandukaniro mu ngirabuzimafatizo.
• Ubuvuzi : Nta muti uhari ubu. Intego ni ukuvura ibimenyetso no kunoza ubuzima. Ubuvuzi bw'umubiri, ubuvuzi bw'akazi, kandi, nibiba ngombwa, imiti n'ibikoresho ni ingenzi.
• Ikintu cy'ingenzi cyane : gusuzuma hakiri kare, kugira inama z'abaganga n'ubuvuzi bukwiye. Inkunga y'imiryango n'amatsinda y'abaterankunga na byo ni ingenzi cyane.

Niba ufite ikindi kibazo kuri ibi, ntutinye kuvugana na muganga wawe. Bazagufasha.

` indwara y'imitsi iterwa n'amaguru n'amaboko, LGMD, intege nke z'imitsi, indwara ziterwa n'uturemangingo, ububabare bw'urutugu, ububabare bw'ikibuno, uburyo bwo kuvura, indwara y'imitsi iterwa n'imitsi sinhala, gutakaza imitsi