Ese imitsi yo mu mubiri wawe irabyina? Ese igenda nk'imiraba? Reka twige ku ndwara y'imitsi ihindagurika!

Ese wigeze ubona cyangwa wumva imitsi yawe ihindagura mu buryo butunguranye, nk'aho irimo kugenda mu mazi, cyangwa yose yafatanye? Hari igihe ushobora gutekereza ko ari ikindi kintu gusa, ariko mu by'ukuri bishobora kuba ikimenyetso cy'indwara idasanzwe ariko y'ingenzi ugomba kumenya. Ibyo nibyo tugiye kuvugaho uyu munsi, Rippling Muscle Disease . Ntugahangayike, reka dukomeze koroshya.

Indwara y'imitsi ihindagurika ni iki?

Muri make, indwara y’imitsi itera imitsi ihindagurika ni indwara idakunze kugaragara ifata uturemangingo tw’imitsi n’imitsi. Abaganga banayita indwara y’imitsi itera imitsi . Muri ibi, imitsi yacu irakomera kenshi kandi mu buryo budasubirwaho, bigatuma ikomera rimwe na rimwe igakura cyane, ari byo byitwa hypertrophy .

Ibi bimenyetso akenshi bitangira mu bwana cyangwa mu bwana bugimbi, ariko ni ngombwa kwibuka ko iyo ndwara rimwe na rimwe ishobora kugaragara mu myaka iyo ari yo yose.

Ni ibihe bimenyetso by'iyi ndwara? Ni iki kirimo kuba?

Nk’uko izina ribigaragaza, indwara ya Rippling Muscle Disease yibasira cyane cyane imitsi yacu, cyane cyane imitsi yegereye igice cyo hagati cy’umubiri wacu (imitsi yo hafi y’aho umuntu atuye) . By’umwihariko, imitsi yo mu bibero byacu (quadriceps) ni yo yibasirwa cyane.

Niba ufite (RMD), bivuze ko imitsi yawe "ishyuha cyane" cyangwa "ishyuha vuba." Ibi bivuze ko imitsi yawe igira ingaruka zidasanzwe nubwo yaba ikozeho gato cyangwa igitutu gito.

Ibimenyetso bikunze kugaragara by’iyi ndwara ni ibi bikurikira:

• Kubabara imitsi: Mu by'ukuri, imitsi yawe iteranira hamwe ahantu hamwe ikaba nk'"ikirundo".
• Gukomeza imitsi: Ibi bishobora kumara amasegonda agera kuri 30.

Ibi bimenyetso byombi bikunze kubaho iyo ikintu kigukubise mu buryo butunguranye, urugero nk'iyo ugonze ikintu. Urugero, iyo ugonze urugi, imitsi y'itako ryawe ishobora gukomera mu buryo butunguranye.

Abantu bagera kuri 60% barwaye RMD bagira imitsi ihindagurika. Iyi ni imitsi ihindagurika isa n'inzoka zigenda munsi y'uruhu. Ibi bimara amasegonda agera kuri 5 kugeza kuri 20. Ibi bikunze kubaho iyo urambuye imitsi.

Izindi bimenyetso zishobora kugaragara harimo:

• Umunaniro: Si umunaniro gusa, ahubwo ni umunaniro ukabije uza nta mpamvu.
• Kuribwa imitsi: Kubabara imitsi bitunguranye kandi bikomeye bitera ububabare bukomeye.
• Gukomera kw'imitsi:Biragoye kunama cyangwa gukuramo inyama.

Ibi bimenyetso bishobora kwiyongera nyuma yo gukora imyitozo ngororamubiri ikabije cyangwa guhura n'ibicurane. Kuri bamwe, imitsi imwe ishobora kuba minini cyane (hypertrophy) kandi uburyo bwo kugenda bushobora guhinduka gato (inzira idasanzwe) .

Ese iyi ndwara irababaza?

Yego, (Indwara y'imitsi ihindagurika) ishobora gutera ububabare bw'imitsi. Cyane cyane iyo imitsi ikomeje gukurura, ububabare buba bukomeye iyo bumaze igihe. Nanone, iyo imitsi irimo guhindagurika (gukomereka) ububabare buragaragara. Tekereza ukuntu byagorana iyo imitsi yo ku kuguru kwawe ihora ifunze.

Ni iki gitera indwara yo gucika kw'imitsi?

Indwara y'imitsi iterwa n'impinduka mu miterere ya gene yitwa CAV3, dukomoka ku babyeyi bacu. Gene ya CAV3 ibwira imibiri yacu gukora poroteyine yitwa caveolin-3 . Iyi poroteyine iboneka mu ruhu rukikije uturemangingo tw'imitsi. Abashakashatsi kandi bemera ko iyi poroteyine ifasha mu kugenzura urugero rwa kalisiyumu , rufasha imitsi gufunga no kwaguka.

Ku bantu bafite RMD, impinduka mu ngirabuzimafatizo ya CAV3 itera kugabanuka k'umusaruro wa poroteyine ya caveolin-3. Abashakashatsi bemeza ko uku kubura poroteyine bituma urugero rwa kalisiyumu mu turemangingo tw'imitsi rudakurikizwa neza. Kubera iyo mpamvu, imitsi irakomera mu buryo budasanzwe bitewe no gusunikwa cyangwa gukururwa gato.

Hari ubwoko butandukanye bw'impinduka muri iyi gene (CAV3). Indwara zijyanye n'inyama ziterwa n'izi mpinduka za gene zitwa (caveolinopathies) . Uretse (RMD), izindi ndwara nyinshi ziri muri iri tsinda ni izi:

• (Autosomal dominant limb-girdle muscular dystrophy) (yahoze yitwa LGMD1C)
• (Hypertrophic cardiomyopathy) (Iyi ni indwara y'umutima)
• (Isolated hyperCKEmia) (Indwara aho enzyme creatine kinase mu maraso iba iri hejuru)
• (indwara ifata imitsi yo mu gice cyo hagati cy’inyuma cy’inyuma cya CAV3) (indwara ifata imitsi yo mu gice cyo hagati cy’inyuma cy’inyuma)

Muri ibi bihe, hari igihe ibimenyetso nk'imitsi ifungana, nk'iminkanyari, bishobora kugaragara muri (RMD).

Nanone, havuzwe ko hari ubwoko bw’indwara y’imitsi iterwa n’ubwiyongere bw’umubiri , iterwa n’indwara y’ubwiyongere bw’umubiri yitwa Myasthenia gravis . Abo bantu nta hinduka ry’uturemangingo twa CAV3 bafite. Ibyo bivuze ko ubudahangarwa bwabo bw’umubiri bwibasira imitsi.

Ni gute twakira iyi ndwara (Indwara y'imitsi igwa)?

Kenshi na kenshi, indwara ya Rippling Muscle Disease iragwa mu buryo busanzwe . Mu magambo make, ibi bivuze ko ushobora kuyirwara uramutse uzunguye kopi imwe ya gene ya CAV3 yahinduwe iva kuri nyoko cyangwa so. Bishobora kubaho nubwo waba ufite gene imwe gusa.

Mu bihe bidasanzwe, RMD ishobora kuragwa mu buryo bwa autosomal recessive pattern . Ibi bivuze ko ugomba kuragwa kopi ebyiri za gene ya CAV3 yahinduwe, iva kuri nyoko na so.

Abantu bafite indwara ya Rippling Muscle Disease mu buryo bwa autosomal recessive bashobora kugira ibimenyetso bikomeye gato kurusha ababifite mu buryo bwa autosomal dominant.

Ni gake cyane, RMD ishobora no kubaho bitewe n’impinduka nshya, nta mateka y’umuryango. Ibi bivuze ko iyi nenge y’uturemangingo ishobora kuvuka mu mubiri w’umuntu bwa mbere, idaturutse ku babyeyi be.

Ni gute abaganga basuzuma neza indwara ya Rippling Muscle Disease?

Abaganga bakoresha ibi bizamini n'uburyo bwo gusuzuma indwara ya Rippling Muscle Disease, ariko si buri wese ugomba kubikora byose.

• Amateka y'ubuvuzi: Muganga azabaza ibimenyetso byawe kandi niba hari umuntu wo mu muryango wawe wigeze kugira RMD cyangwa izindi ndwara zo mu nda.
• Ibizamini by'umubiri n'imitsi: Muganga azasuzuma imiterere y'imitsi yawe n'imikorere y'imitsi yawe.
• Isuzuma ry'amaraso ya Creatine kinase: Iyo imitsi yangiritse, iyi enzyme (creatine kinase) iriyongera mu maraso.
• Electromyography (EMG): Iyi isuzuma imikorere y'amashanyarazi y'imitsi.
• Bisipu y'imitsi: Agace gato k'imitsi karafatwa kagasuzumwa hifashishijwe mikorosikopi.
• Ibizamini by’uturemangingo: Ibi bizamini bikorwa kugira ngo harebwe niba (RMD) ari ubwirinzi bw’umubiri.
• Gupima imiterere y'uturemangingo: Ubu ni bwo buryo bwiza bwo kumenya niba hari impinduka muri gene (CAV3).

Ibi bizamini bifasha mu gukuraho izindi ndwara zifite ibimenyetso bisa kandi byemeza indwara ya Rippling Muscle Disease.

Mu gihe cyo gusuzuma indwara, muganga wawe ashobora kukwohereza ku muganga w’inzobere, nk’inzobere mu by’imitsi cyangwa inzobere mu by’imiterere y’uturemangingo .

Ni ubuhe buryo bwo kuvura ibi?

Uburyo bwo kuvura indwara ya Rippling Muscle Disease buterwa niba ari imiterere y’uturemangingo cyangwa se ari ubwirinzi bw’umubiri.

Uburyo bwo kuvura imiterere y'uturemangingo:

Ibi ahanini bikubiyemo kugenzura ibimenyetso no kohereza inama ku bijyanye n'uturemangingo . Iyo intanga zigenda zihindagurika cyangwa zigabanuka cyane, hari imiti ishobora gufasha. Iyo miti irimo:

• (Dantrolene): Iyi ni umuti ugabanya imitsi.
• (Abarwanya imiyoboro ya calcium):Iyi ni imiti ibuza imiyoboro ya kalisiyumu.
• Benzodiazepines: Izi ziruhura imitsi kandi zikagabanya imihangayiko.

Uburyo bwo kuvura ubudahangarwa bw'umubiri:

Ibi bishobora kuvurwa hakoreshejwe uburyo bwo kugabanya ubudahangarwa bw'umubiri , cyangwa niba ufite thymoma (ikibyimba kiri mu gatsi ka thymus), ushobora kubagwa kugira ngo thymus gland ikureho (thymectomy) .

Ese dushobora gukumira iki (Indwara yo kubabara imitsi)?

Kubera ko indwara y’imitsi iterwa n’udukoko akenshi iba mu maraso, nta kintu na kimwe dushobora gukora ngo tuyirinde. Si ikintu dushobora kugenzura.

Ariko, niba uhangayikishijwe n'ibyago byo kwanduza umwana wawe indwara ya RMD cyangwa izindi ndwara zikomoka ku ngirabuzimafatizo mbere yuko ubyara umwana, ni ngombwa cyane kuvugana na muganga wawe ku birebana n'ubujyanama ku ngirabuzimafatizo kugira ngo ubashe gusobanukirwa neza.

Ni ryari ngomba kujya kwa muganga?

• Niba ibimenyetso byawe bya RMD birushijeho kwiyongera , cyangwa bikabaho kenshi , menya neza ko wavuganye na muganga wawe.
• Niba hari umuntu wo mu muryango wawe uherutse gufatwa n'indwara ya Rippling Muscle Disease, baza muganga wawe niba wowe cyangwa abandi bagize umuryango wawe mushobora kurwara iyi ndwara.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

Ushobora gusanga ari ingirakamaro kubaza muganga wawe ibi bibazo:

• Nakora iki kugira ngo menye ibimenyetso byanjye?
• Ni ubuhe buryo bwo kuvura bunkwiriye?
• Ese abana banjye bashobora kunzigamira indwara ya Rippling Muscle Disease?
• Ese abandi bagize umuryango wanjye bagomba gupimwa indwara ya Rippling Muscle Disease?

Ubajije ibi bibazo, uzabasha gusobanukirwa neza iki kibazo.

Ese indwara yo gucika kw'imitsi igira ingaruka ku mutima?

Indwara y'imitsi itera imitsi mu buryo butaziguye ntigira ingaruka ku mutima. Ariko, RMD na hypertrophic cardiomyopathy byombi biterwa n'impinduka mu ngirabuzimafatizo imwe (CAV3), bityo hari isano hagati y'izo ndwara zombi. Nubwo ari gake cyane, impinduka mu ngirabuzimafatizo ya CAV3 zishobora kugira ingaruka ku mitsi y'umutima n'izindi nyamaswa mu mubiri. Ariko ni gake cyane.

Ese (Indwara yo gucika kw'imitsi) yica?

Indwara ya Rippling Muscle ubwayo ntabwo yica. Ni ukuvuga ko idashyira ubuzima mu kaga. Ariko, ibimenyetso bya (RMD) nko kubyimba kw'imitsi nk'iminkanyari bishobora no kuba ikimenyetso cy'izindi ndwara (caveolinopathies) ziterwa n'impinduka za gene zavuzwe haruguru (CAV3).

Mu ndwara zo mu bwoko bwa caveolinopathies, indwara zikomeye zo mu bwoko bwa autosomal dominant limb-girdle muscular dystrophy hamwe na hypertrophic cardiomyopathy rimwe na rimwe zishobora gushyira ubuzima mu kaga.

Ni ibisanzwe kumva uremerewe cyane iyo usanzwe ufite indwara y’uturemangingo, cyane cyane iyo idakunze kugaragara. Ariko ibuka ko itsinda ry’abaganga rizaba rihari kugira ngo rigusobanurire indwara ya Rippling Muscle Disease, rikubwire uko izakugiraho ingaruka, kandi rigufashe kubona uburyo bwiza bwo gucunga ibimenyetso byawe.

Ibintu by'ingenzi cyane ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Noneho rero, ubu usobanukiwe icyo twavuzeho (Indwara y'imitsi ihindagurika). Muri make:

• Indwara y'imitsi ihindagurika ni indwara idakunze kugaragara irangwa no guhindagura imitsi, kubyimba, gukomera no kwizinga.
• Akenshi, ibi biterwa n'impamvu za genetiki (gene ya CAV3) . Hari igihe hashobora kubaho n'izindi mpamvu ziterwa n'ubwiyongere bw'umubiri.
• Iyi si indwara yica . Ariko, zimwe mu ndwara zo mu bwoko bwa caveolinopathies zifitanye isano nayo zishobora kuba zikomeye.
• Niba ufite ibi bimenyetso, ntugatinye ahubwo ushake inama kwa muganga . Ikintu cy'ingenzi ni ukubona isuzuma nyaryo no guhabwa ubuvuzi n'inama bikenewe.
• Ubujyanama ku bijyanye n'imiterere y'umubiri bushobora kuba ingirakamaro cyane mu bihe nk'ibi.

Niba ushaka kumenya byinshi kuri ibi, cyangwa niba ubona ko ufite ibi bimenyetso, nyamuneka gana muganga. Ntutinye, hari ibisubizo kuri byose.

Indwara y'imitsi ihindagurika , imitsi ihindagurika, imitsi ihindagurika, gene ya CAV3, ububabare bw'imitsi, indwara z'uturemangingo, indwara z'ubwiyongere bw'umubiri