Ese imitsi y'umwana wawe irakomeye kandi igorwa no gufungura amaboko ye? Reka twige kuri (Myotonia Congenita)!

Ese wigeze ubona ko rimwe na rimwe iyo umwana wawe afashe igikinisho neza, bifata igihe kugira ngo wongere ukireke? Cyangwa uhita wumva umeze nk'aho yakomeretse mu gihe yirukanka akina? Ni ibisanzwe ko umubyeyi yumva afite ubwoba gato iyo abonye ibintu nk'ibi. Uyu munsi tugiye kuvuga ku ndwara ishobora gutera ibi bimenyetso, ariko ntabwo ikunze kugaragara cyane.

Myotonia Congenita ni iki?

Mu magambo make, Myotonia Congenita ni indwara iterwa na genetiki . Muri iyi ndwara, imitsi yacu ntishobora kuruhuka vuba nyuma yo gucika intege. Tekereza umwana wawe afite umupira w'igikinisho mu ntoki ze neza. Ubusanzwe, iyo umubwiye kurekura, ahita arekura. Ariko umwana ufite iyi ndwara agira ingorane zo kubireka byose icyarimwe. Ukuboko gushobora kumva gukomeye igihe runaka.

Iyi ndwara ikunze gutangirira mu bwana cyangwa mu bwana . Uretse gukomera kw'imitsi, hari n'ibindi bimenyetso bishobora kugaragara, nko kurwara cyane kw'imitsi, ari na byo bigaragara nk'imitsi.

Abaganga bashyira ibi mu byiciro nk'indwara ya myotonia idakabije. Ibyo bivuze ko nta cyangiritse gikomeye ku miterere y'imitsi y'umwana wawe. Ni nzima. Ariko, hari ikibazo gito ku mikorere y'amashanyarazi igenzura ihindagurika ry'imitsi. Hari izindi ndwara ziterwa na myotonia, zitwa 'myotonia idakomeye.' Muri izi ndwara, imiterere y'imitsi nayo iragira ingaruka.

Ni ibisanzwe kumva uhangayitse kandi ufite ubwoba iyo tubonye impinduka mu mubiri w'umwana wacu. Ariko icyo ugomba kumenya ni uko iyi ndwara, yitwa myotonia congenita , ubusanzwe idakomeza kwiyongera uko igihe kigenda gihita . Hamwe n'ubuvuzi bw'umubiri n'ubundi buryo bwo kuvura, ibi bimenyetso bishobora gukemurwa neza.

Ni ubuhe bwoko bw'ingenzi bwa Myotonia Congenita?

Hari ubwoko bubiri bw'ingenzi bw'iyi ndwara, reka turebe ibyo ari byo.

1. Indwara ya Becker

Ubu ni bwo bwoko bwa myotonia congenita bukunze kugaragara cyane . Bushobora gutera intege nke z'imitsi mu maboko no mu maguru y'umwana. Ibimenyetso by'indwara ya Becker akenshi bigaragara hagati y'imyaka 4 na 12. Ariko, ibi bitandukanye na Becker muscular dystrophy, bityo ntubyitiranye na Becker muscular dystrophy.

2. Indwara ya Thomsen

Iyi ni ubwoko bwa myotonia congenita budakunze kugaragara kandi bworoheje . Ibimenyetso bikunze gutangira mu mezi make ya mbere y'ubuzima kandi bishobora kumara imyaka 2-3 .

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Indwara ya Myotonia Congenita ikunze kugaragara mu rugero rungana iki?

Mu by’ukuri iki ni ikibazo kidasanzwe.Iyi ndwara yibasira abantu bagera ku 1 mu bihumbi ijana. Ariko, iyi ndwara ikunze kugaragara cyane mu bantu bo mu bihugu bya Skandinaviya nka Finlande, Noruveje na Suwede. Muri ibyo bihugu, bivugwa ko abantu bagera ku 1000 barwaye iyi ndwara.

Ni ibihe bimenyetso bya Myotonia Congenita?

Ikintu nyamukuru kiranga iyi ndwara ni uko imitsi itinda kuruhuka nyuma yo gucika intege . Ibi ni byo twita myotonia. Iyi ndwara ya myotonia ishobora kuba mbi iyo utangiye akazi nyuma yo kuruhuka cyangwa ahantu hakonje.

Izindi bimenyetso umwana wawe ashobora kugira ni izi:

• Kurya nabi, kubyimbirwa, isesemi, no kongera kubyimba mu muhogo - cyane cyane mu bwana. Urugero, bamwe mu bana bashobora kumva barya ibiryo byinshi mu muhogo wabo ndetse no nyuma yo kunywa amata make.
• Kugwa kenshi no kutagira uburinganire (kuba umuntu udafite ubushishozi) - Ibi bishobora kugaragara ndetse na nyuma yo gutangira kugenda no kumenyera.
• Kureba kabiri cyangwa ijisho ry'ubunebwe.
• Imitsi irakura (hypertrophy) , bishobora gutuma usa n'umukinnyi w'imikino ngororamubiri.
• Kubabara imitsi.
• Gukomera kw'imitsi , cyane cyane mu maguru y'umwana. Ariko, uku gukomera gushobora kugabanuka uko umuntu agenda n'iyo umubiri ushyushye. Ibi byitwa 'ibintu byo gushyushya' .
• Intege nke , cyane cyane niba umwana wawe afite indwara ya Becker.
• Scoliosis ni ukugorama kudasanzwe k'umugongo.

Abana b'abahungu bashobora kwibasirwa cyane kurusha abakobwa. Ibimenyetso bishobora no kwiyongera by'igihe gito mu gihe cyo gutwita no mu mihango.

Ibimenyetso by'indwara ya Thomsen akenshi bitangira kare kandi bibanza kugira ingaruka ku maso y'umwana no ku maboko ye . Ibimenyetso by'indwara ya Becker akenshi bitangira nyuma kandi bibanza kugira ingaruka ku maguru .

Ni iki gitera indwara ya Myotonia Congenita?

Myotonia Congenita iterwa n'impinduka mu ngirabuzimafatizo ya CLCN1 . Iyi ngirabuzimafatizo igira ingaruka ku miyoboro ya chloride mu ruhu rw'imitsi yacu. Niyo mpamvu imitsi igira ingorane zo kuruhuka nyuma yo gucika intege.

Indwara ya Becker (BD) ivuka mu buryo bw’umubiri buterwa n’impinduka mu miterere y’uturemangingo . Ibi bivuze ko ababyeyi bombi b’umwana bagomba kuba bafite iyo mpinduka mu turemangingo, kandi bombi bagomba kuyimurira umwana. Ariko, abo babyeyi ntibagaragaza ibimenyetso. Ni abatwara iyo gene gusa.

Indwara ya Thomsen (TD) ni iki?Indwara ifata umubiri wose. Muri iki gihe, nubwo umubyeyi umwe gusa ari we ufite ihinduka ry’uturemangingo tw’umubiri, umwana ashobora kuriragwa.

Ni gute indwara ya Myotonia Congenita ipimwa?

Abaganga bakunze gusuzuma iyi ndwara bakiri abana. Muganga wawe azabaza ibimenyetso by'umwana wawe n'amateka y'ubuzima bw'umuryango wawe. Hanyuma bazakora ibizamini kugira ngo barebe niba hari ibibazo biri mu ishinya. Ibi bishobora kuba birimo:

• Kubwira umwana gufungura no gufunga amaso vuba .
• Kureba niba umwana ashobora gufata ikintu mu ntoki ze akakirekura vuba, cyangwa niba ashobora gufungura ikiganza cye vuba agikanda .
• Konda witonze ku nyama y'umwana ukoresheje inyundo nto (percussor) kugira ngo urebe niba ikomera.

Muganga wawe ashobora kandi kukugira inama yo gupima ibindi bipimo byinshi kugira ngo yemeze ko ufite indwara cyangwa kugira ngo yemeze ko nta zindi ndwara zitera ibimenyetso bisa. Ibi bipimo birimo:

• Isuzuma ry'amaraso rya Creatine Kinase (CK): Urugero rwa CK rushobora kwiyongera muri myotonia congenita.
• Electromyography (EMG): Iki kizamini gipima imikorere y'amashanyarazi ituruka ku mitsi. Ibi bishobora gufasha gutandukanya indwara ziterwa n'imitsi n'iziterwa n'imitsi. Ariko, biragoye gutandukanya ubwoko bubiri bwa myotonia congenita hashingiwe ku bisubizo bya EMG.
• Gupima imiterere y'uturemangingo: Ibi bireba impinduka mu imiterere y'uturemangingo zitera myotonia congenita.
• Kuvura imitsi: Kuvura imitsi ya myotonia congenita bikunze kugaragara nk'ibisanzwe, ariko rimwe na rimwe hari ibintu bito bishobora kugaragara.

Ni ubuhe buryo bwo kuvura indwara ya Myotonia Congenita?

Nta muti uhari kuri iyi ndwara. Umwana wawe ashobora kuba adakeneye ubuvuzi bwihariye. Kuruhuka no gukora imyitozo ngororamubiri yoroheje bishobora gufasha kugabanya imitsi idakomera. Muganga wawe ashobora kandi kukugira inama yo gukoresha physiotherapy kugira ngo imitsi ikomeze gukora neza.

Hari igihe umwana wawe ashobora kungukirwa n'imiti. Muganga wawe ashobora kuguha imiti nka mexiletine cyangwa ranolazine kugira ngo agabanye inshuro n'ubukana bw'indwara zo mu mutwe. Indi miti nka lamotrigine na carbamazepine nayo ishobora gufasha, ariko rimwe na rimwe ishobora gutera ingaruka mbi.

Dore ibindi bintu wowe, umwana wawe, n'umuryango wawe mushobora gukora kugira ngo mucunge ibimenyetso bya myotonia congenita kandi wirinde icyabitera:

• Kwirinda ahantu hakonje.
• Gukora imyitozo ngororamubiri ihoraho– Ibimenyetso bishobora kubura iyo umubiri w'umwana ushyushye gato (ibi byitwa 'ibintu byo gushyushya').
• Gucunga imihangayiko.
• Mu gihe bibaye ngombwa, hindura indyo ; ibi bivuze guha umwana ibiryo byoroshye kumira kugira ngo ugabanye ibyago byo kubyimba. Urugero, niba bigoye kurya ibiryo bikomeye, bishobora gushwanyagurika no koroherwa.

Ese indwara ya Myotonia Congenita ishobora kwirindwa?

Myotonia Congenita iterwa n'impinduka mu ngirabuzimafatizo, bityo nta kintu na kimwe wakora kugira ngo uyirinde . Niba hari umuntu wo mu muryango wawe ufite iyi ndwara, cyangwa niba nawe uyifite kandi ukaba uteganya kubyara, ni byiza kureba umujyanama mu by'imiterere y'umubiri . Hanyuma ashobora kukwigisha ku byago byo kwanduza abana bawe iyi ndwara.

Ejo hazaza h'umuntu urwaye Myotonia Congenita ni he? (Ibisobanuro)

Ubusanzwe indwara ya Myotonia Congenita ntiyongera uko igihe kigenda gihita . Ibimenyetso by'umwana wawe bizakomeza kuba bimwe mu buzima bwe bwose. Gukoresha ubuvuzi bw'umubiri no kwirinda ibintu bituma ibimenyetso birushaho kuba bibi bishobora gufasha umwana wawe gukomeza gukora siporo no gukomeza imirimo isanzwe. Abantu barwaye myotonia congenita bashobora kwitabira siporo no kubaho ubuzima busanzwe. Mu ndwara ya Becker, umwana ashobora kugira intege nke uko agenda akura.

Imyaka yo kubaho k'umuntu urwaye Myotonia Congenita ni iyihe?

Abantu barwaye Myotonia Congenita baba bafite ubuzima busanzwe . Iyi ndwara ntabwo igira ingaruka ku zindi ngingo z'umubiri.

Ni ryari umwana wanjye agomba kujya kwa muganga?

Myotonia Congenita ni indwara ifata igihe kirekire . Nubwo akenshi idahinduka cyangwa ngo irusheho kuba mbi, umwana wawe azakenera kujya kwa muganga buri gihe niba afata imiti imuvura. Ibikenewe mu buvuzi bw'umubiri bishobora guhinduka uko umwana wawe akura.

Icy'ingenzi ni uko myotonia congenita ishobora kugira ingaruka ku buryo umwana wawe yitabira ikinya . Kubwibyo, niba umwana wawe agomba kubagwa, ugomba kubimenyesha muganga wawe. Ugomba kandi kubimenyesha umuganga w'ikinya uzamwitaho mu gihe cyo kubagwa.

"Ni ibisanzwe kumva ubabaye cyane iyo imitsi y'umwana wawe idakora neza. Ushobora guhangayikishwa n'uburyo ibi bizarushaho kuba bibi, n'uko bigira ingaruka ku buzima bw'umwana wawe n'ubw'umuryango wawe. Ariko inkuru nziza ni uko myotonia congenita ishobora kwitabwaho neza hakoreshejwe ubuvuzi bw'umubiri n'impinduka nto ushobora gukora mu rugo no mu buzima bwawe bwa buri munsi. Wibuke ko muganga wawe ahora ahari kugira ngo agufashe mu bibazo byawe no gusubiza ibibazo byose ushobora kuba ufite."

Ibintu by'ingenzi tugomba kwibuka muri iyi nkuru (Ubutumwa bwo kujyana mu rugo)

Noneho reka turebe ibintu byoroshye byo kwibuka kuri myotonia congenita twavuzeho:

• Iyi ni indwara idakunze kugaragara mu buryo bw'uturemangingo . Ikintu nyamukuru kiyiranga ni uko iyo imitsi imaze gufungana, igorwa no kuruhuka vuba.
• Hari ubwoko bubiri bw'indwara ya Becker: indwara ya Becker n'indwara ya Thomsen.
• Ibi ntabwo birushaho kuba bibi uko igihe kigenda gihita .
• Nubwo nta muti wihariye uhari, ibimenyetso bishobora kugenzurwa neza hakoreshejwe ubuvuzi bw'umubiri, imiti imwe n'imwe, no guhindura imibereho .
• Umwana ashobora kubaho ubuzima busanzwe no gukina siporo .
• Niba umwana wawe akeneye kubagwa, ugomba kwitondera cyane ibijyanye no gusinziriza .
• Ntutinye kubaza ibi. Vugana na muganga wawe maze ubone inama n'ubufasha ukeneye . Wibuke ko utari wenyine.