Ese imitsi yawe nayo iragenda icika intege? Ibi bishobora kuba ari indwara ya myotonic dystrophy!

Ese wigeze wumva amaguru yawe akomeye arimo gucika intege buhoro buhoro cyangwa agacika intege? Cyangwa hari igihe bikugora gufungura ikiganza cyawe iyo ufashe ikintu neza? Ibi ni ibintu rimwe na rimwe tudakunze kwitaho cyane, ariko bishobora kuba ibimenyetso by'indwara yitwa Myotonic Dystrophy . Reka tubiganireho birambuye kandi uyu munsi.

Myotonic Dystrophy ni iki?

Mu magambo make, Myotonic Dystrophy (DM) ni indwara ikomeye iterwa n’uturemangingo. Ikintu nyamukuru muri ibi ni uko imitsi yo mu mubiri wacu igenda igabanuka buhoro buhoro ikagabanuka. Imitsi y’abantu bafite iyi ndwara ishobora kudahita iruhuka nyuma yo kuyikoresha, ariko ishobora gukomeza gufungana. Ibi tubyita myotonia . Ni nko gufata umushumi w’urugi cyane hanyuma ukagerageza kuwufungura bigatwara igihe.

Ibimenyetso bya myotonic dystrophy (DM) bishobora kuba byinshi cyane. Bishobora kugira ingaruka ku mikorere itandukanye y'umubiri wacu. Urugero:

• Imitsi yacu y'amagufwa (imitsi tuyigenzura nkana) n'imitsi y'umutima.
• Amaso.
• Umutima n'imitsi (urusobe rw'amaraso).
• Sisitemu y'imisemburo (urusobe rw'imisemburo).
• Uturemangingo tw'imitsi yo hagati (ubwonko n'umugongo).

Ese hari ubwoko bwa myotonic dystrophy?

Yego, hari ubwoko bubiri bw'ingenzi bwa DM:

1. Myotonic dystrophy type 1 (DM1): Iyi nanone yitwa indwara ya Steinert . DM1 ifite ubwoko bune bw'indwara:

• Ubwoko bwa kera
• Ubwoko bworoheje
• Ubwoko bw'ivuka (ubu busanzwe mu gihe cyo kuvuka)
• Ubwoko bw'abana

2. Myotonic dystrophy type 2 (DM2): Iyi nanone yitwa proximal myotonic myopathy .

Ibimenyetso by'ubwoko bwombi rimwe na rimwe bishobora kuba bisa. Ariko, DM2 akenshi iba yoroheje gato ugereranyije na DM1, bivuze ko ibimenyetso bidakomeye cyane.

Ni irihe tandukaniro riri hagati ya Muscular Dystrophy na Myotonic Dystrophy?

Iki ni ikintu gitera urujijo abantu benshi. Kurwara imitsi ni itsinda ry'indwara zivukanwa (genetique). Iri tsinda rigizwe n'ubwoko burenga 30 bw'indwara. Zose zitera intege nke z'imitsi. Izi ndwara ziba mu cyiciro cya myopathy , ari na cyo kirwara imitsi yacu. Uko igihe kigenda gihita, imitsi iragabanuka ikanacika intege. Ibi bituma bigoye kugenda no gukora imirimo ya buri munsi. Hari igihe umutima n'ibihaha nabyo bishobora kugira ingaruka.

Kurwara kwa MiyotonicNi ubwoko bw'indwara iri mu itsinda ryavuzwe haruguru ryo kurwara imitsi. Umwihariko ni uko mu ndwara zifata imitsi zitangira umuntu akuze, iyi ndwara yo kurwara imitsi ni yo ikunze kugaragara cyane. (Ariko, hari ubwoko bwa DM bushobora no gutangirira mu bwana cyangwa mu bwana).

Ni nde ushobora kugira indwara ya myotonic dystrophy? Ese hari itandukaniro ry'imyaka?

Ubwoko butandukanye bwa DM bushobora gutangirana n'imyaka itandukanye. Reka turebe uko bigenda:

• Indwara ya myotonic dystrophy yo mu bwoko bwa 1 (Classic DM1): Ibi bikunze gutangira mu myaka ya za 20, 30, cyangwa 40.
• Indwara ya myotonic dystrophy yo mu bwoko bwa 1 (Mild DM1): Iyi ndwara ishobora kwibasira abantu bari hagati y'imyaka 20 na 70, ariko ikunze kugaragara nyuma y'imyaka 40.
• Indwara ya myotonic yo mu bwoko bwa 1 (Congenital DM1): Nk'uko ijambo "congenital" ribigaragaza, iyi ni ubwoko bw'indwara ifata abana bato. Ibi bivuze ko iba ihari kuva ikivuka.
• Indwara ya myotonic dystrophy yo mu bwana ubwoko bwa 1 (Childhood DM1): Ibi akenshi bitangira ahagana ku myaka 10.
• Indwara ya Myotonic dystrophy yo mu bwoko bwa 2 (DM2): Iyi nayo itangira umuntu akuze. Ibimenyetso bikunze gutangira afite imyaka 48.

Iyi ndwara ikunze kugaragara mu rugero rungana iki?

Indwara ya Myotonic dystrophy (DM) yibasira nibura umuntu 1 ku bantu 8.000 ku isi. Ariko, uyu mubare ushobora gutandukana bitewe n'akarere n'ubwoko. Indwara ya DM ni yo ndwara ikunze kugaragara cyane mu bantu bakomoka mu Burayi.

Mu baturage benshi, indwara ya DM type 1 (DM1) ikunze kugaragara kurusha indwara ya DM type 2 (DM2).

Ni ibihe bimenyetso bya Myotonic Dystrophy?

Ibi ni byo bimenyetso by'ingenzi bya DM. Bigenda birushaho kwiyongera uko igihe kigenda gihita, bivuze ko birushaho gukomera:

• Kugabanuka kw'imitsi: Gutakaza imitsi.
• Intege nke z'imitsi: Kugabanuka kw'imbaraga z'imitsi.
• Myotonia: Twavuze kuri ibi mbere. Kudashobora kuruhuka imitsi ubyifuza. Urugero, iyo umuntu ufite DM afashe umugozi w'urugi, bishobora kugorana kubirekura.

Ariko, kubera ko DM igira ingaruka ku bice bitandukanye by'umubiri, hari ibindi bimenyetso bitandukanye bishobora kubaho. Ubukana bw'ibi bimenyetso n'umuvuduko wabyo biratandukanye bitewe n'ubwoko bwa DM.

Ibimenyetso bya Classic Myotonic Dystrophy Type 1

Ibimenyetso by'ubu bwoko bitangira umuntu akuze. Myotonia ni cyo kimenyetso nyamukuru kigaragara bwa mbere. Ibi bigaragara cyane nyuma yo kuruhuka kandi bishobora kugabanuka gato nyuma yo gukora imitsi.

Ibindi bimenyetso ni ibi bikurikira:

• Intege nke z'imitsi yo kure:Ibi bivuze ko imitsi iri kure y'umubiri rwagati (urugero: imitsi yo mu maboko no ku maguru) icika intege. Ibi bituma bigorana gukora imirimo yoroshye n'amaboko (urugero: gukanda, kwandika). Binatuma bigoye kugenda bitewe n'indwara yitwa kugwa kw'ikirenge (nk'aho hasi h'ikirenge hari gukurura hasi).
• Isura nto, ifite isura igororotse (myopathic) bitewe no kugabanuka kw'imitsi yo mu maso.
• Ubushobozi bwo kuyobora umutima butari bwiza.

Ibimenyetso bya Congenital Myotonic Dystrophy Type 1

Kubera ko ubwo bwoko bw'indwara bubaho igihe cyo kuvuka, umwana ashobora kugaragaza ibimenyetso bimwe na bimwe akiri mu nda ya nyina:

• Kugabanuka kw'uruhinja rugenda mu nda.
• Polyhydramnios ni ingano ikabije y'amazi yo mu nda akikije umwana uri mu nda mu gihe atwite.
• Ikirenge cy'ikirenge ( ikirenge cyahindukiye imbere).
• Ventriculomegaly (kwaguka kw'imitsi yo mu bwonko) (biterwa no kwirundanya kw'amazi yo mu bwonko).

Ibimenyetso bigaragara ku bana n'abantu bakuru nyuma yo kuvuka:

• Umunwa wo hejuru usa n'ihema bitewe n'intege nke z'imitsi yo mu maso.
• Imvugo idasobanutse neza (Dysarthria) .
• Ubumuga bwo mu mutwe.
• Aho kugira myotonia, hari kugabanuka k'imitsi (Hypotonia) .

Ibimenyetso bya Myotonic Dystrophy yo mu bwoko bwa 1

Ibimenyetso by'ubu bwoko akenshi bitangira hagati y'imyaka 20 na 70. Birimo:

• Intege nke z'imitsi.
• Myotoniya (Myotoniya).
• Indwara zo mu kanwa .

Ibimenyetso bya Myotonic Dystrophy yo mu bwana Ubwoko bwa 1

Ibimenyetso by'ubu bwoko akenshi bitangira ahagana ku myaka 10. Birimo:

• Ingorane zo kwiga n'ibibazo by'imibanire n'abandi (urugero: ibibazo byo mu muryango, kwiheba, guhangayika).
• Imvugo idasobanutse neza.
• Myotoniya y'imitsi y'amaboko.
• Ubushobozi bwo kuyobora umutima butari bwiza.

Ibimenyetso bya Myotonic Dystrophy Type 2

Ibimenyetso bya DM yo mu bwoko bwa 2 akenshi bitangira umuntu akuze kandi bishobora gutandukana.

Ibimenyetso bishobora kuba birimo:

• Intege nke cyangwa ubukana bw'imitsi iri hafi y'umubiri rwagati (urugero: imitsi ikikije ikibuno n'amatugu).
• Ububabare mu mitsi no mu ngingo zihuza igitsina (Myofascial pain) .
• Gutangira kwandura cataracts hakiri kare (mbere y'imyaka 50).
• Myotonia y'ibipimo bitandukanye ibaho iyo umuntu afashe ikintu n'ukuboko.
• Ubumuga bwo kutumva.

Ububabare ni ikibazo gikomeye ku bantu barwaye DM2. Aba bantu bavuga ko bagira ububabare mu nda, mu mitsi, no mu gihe cy'imyitozo ngororamubiri.

Ni iki gitera indwara ya Myotonic Dystrophy?

Myotonic dystrophy (DM) ni indwara iterwa n'uturemangingo , bivuze ko yandurira abana iva ku babyeyi binyuze mu turemangingo.

Ubwoko bwa DM 1 (DM1) buterwa n'impinduka (impinduka) muri gene yitwa DMPK . Ubwoko bwa DM 2 (DM2) buterwa n'impinduka muri gene yitwa CNBP .

Impinduka nk’izo mu miterere ya za jeni zombi, DMPK na CNBP, ni zo zitera DM1 na DM2. Muri buri kibazo, igice cya ADN gisubirwamo inshuro nyinshi mu buryo budasanzwe. Ibi bituma habaho agace kadahindagurika muri jeni. Uko iki gice cya ADN gisubirwamo inshuro nyinshi mu buryo budasanzwe, ni ko ibimenyetso bya DM birushaho gukomera.

Ibimenyetso bya siyansi bigaragaza ko RNA nyinshi y’ubutumwa ikorwa n’izi ADN zidasanzwe ari uburozi. Ibi bibangamira ikorwa rya poroteyine zitandukanye mu turemangingo, ari na byo bitera ibimenyetso bya dystrophy ya myotonic mu ngingo zitandukanye.

Uburyo iyi ndwara yandurira mu bisekuruza bitandukanye (Myotonic Dystrophy Inheritance)

Ubwo bwoko bwombi bwa DM buvukanwa mu buryo bwitwa autosomal dominant . Muri ubu buryo, umubyeyi umwe gusa ni we ugomba kugira gene yanduye kugira ngo indwara ihere ku mwana. Kimwe cya kabiri cy'abana b'umubyeyi ufite imiterere iyobora autosomal bazaragwa iyo mico.

Uko indwara ya myotonic dystrophy type 1 (DM1) ihererekanywa kuva ku gisekuru kimwe ijya ku kindi, imyaka yo gutangira irushaho kuba mito kandi ibimenyetso bikarushaho kwiyongera. Iki kintu cyitwa gutegereza . Ni nk'aho indwara "iri kwihuta" kuva ku gisekuru kimwe ijya ku kindi.

Ni gute indwara ya Myotonic Dystrophy ipimwa? (Isuzuma)

Niba ufite ibimenyetso bya DM, muganga azabanza kugusuzuma akakubaza ibi bikurikira:

• Amateka yawe bwite y'ubuvuzi.
• Amateka y'ubuzima bw'umuryango, cyane cyane niba hari umuntu uwo ari we wese mu muryango ufite DM.
• Ibimenyetso byawe.

Nyuma y'ibyo, hashobora gukorwa ibizamini bimwe na bimwe byo kwa muganga kugira ngo hemezwe ko umuntu afite DM.

Ni ubuhe bwoko bw'ibizamini bikorwa?

Gupima imiterere y’uturemangingo bishobora kwemeza ko umuntu yanduye DM. Ibi bizamini bireba impinduka mu miterere y’uturemangingo twa DMPK (kuri DM1) cyangwa CNBP (kuri DM2).

Niba umuganga wawe akeka ko ufite DM cyangwa indi ndwara, ashobora gukora kimwe cyangwa byinshi muri ibi bizamini mbere yo kohereza kwa muganga ngo upimwe mu buryo bw'uturemangingo:

• Isuzuma ry'amaraso rya Creatine kinase: Creatine kinase ni enzyme iboneka cyane cyane mu mutima no mu mitsi y'amagufwa. Iyo utwo turemangingo tw'imitsi twangiritse, iyi enzyme irundanya mu maraso. Abantu bafite DM yoroheje bashobora kugira uru rugero rwo hejuru gato, cyangwa bikaba bisanzwe.
• Electromyogram (EMG):Muri iki kizamini, electrode ntoya imeze nk'urushinge ishyirwa mu mitsi maze imikorere y'amashanyarazi y'imitsi ipimwa. Abantu bafite DM bakunze kugira imikorere myinshi n'iciriritse y'amashanyarazi mu mitsi yabo, ndetse no mu gihe baruhutse.
• Bisipo y'imitsi: Muri ibi, muganga afata icyitegererezo cy'uturemangingo duto mu mitsi yawe akadusuzuma akoresheje mikorosikopi kugira ngo arebe niba hari ibimenyetso bya DM.

Ese hazabaho ibindi bipimo nyuma yo kwemezwa ko iyi ndwara ihari?

Yego, niba ibi bizamini byemeza ko DM ari yo ndwara, muganga wawe ashobora kukugira inama yo gukomeza ibizamini kugira ngo arebe imikorere y'ingingo zimwe na zimwe zishobora kuba zaragizweho ingaruka na DM. Urugero:

• Ikizamini cya electrocardiogram (ECG) kugira ngo harebwe imikorere y'umutima.
• Gupima imikorere y'ibihaha kugira ngo harebwe niba hari ibibazo by'imitsi yo mu bwonko.
• Inyigo yo gusinzira kugira ngo harebwe niba hari ikibazo cyo kubura umwuka wo mu bitotsi ndetse n'ibitotsi byinshi ku manywa.

Ese hari uburyo bwo kuvura indwara ya Myotonic Dystrophy?

Ikibabaje ni uko nta muti uhari wa myotonic dystrophy (DM). Bityo rero, intego z'ingenzi zo kuvura ni izi:

• Gukemura ibimenyetso.
• Kugumana ubuzima bwiza n'ubwigenge ku rwego rwo hejuru.

Kubera ko indwara ya DM igira ingaruka ku bice bitandukanye by'umubiri, uburyo bwo kuvura bushobora gutandukana bitewe n'ibimenyetso ufite. Ibi bishobora kuba birimo:

• Imiti igabanya indwara ya myotonia idakira. Urugero, imiti igabanya umuvuduko wa sodium nka Mexiletine , imiti igabanya ubukana bwa Tricyclic , Benzodiazepines , cyangwa imiti irwanya Kalisiyumu .
• Imashini ya CPAP yo kwirinda indwara yo guhumeka mu gihe cyo gusinzira.
• Ibitera imbaraga nka methylphenidate mu gusinzira cyane ku manywa.
• Kubaga cataract ni ukubaga kugira ngo bakureho cataract ibuza umuntu kubona neza.
• Kuvura diyabete. Ibi bishobora gusaba ibinini cyangwa insuline . Abantu bafite DM bafite ibyago byinshi byo kurwara diyabete bitewe no kudakora insuline neza .
• Uburyo bwo kuvura testosterone ku bagabo bafite hypogonadism . Abagabo bafite DM1 bakunze kugira testosterone nkeya ndetse no kudakora neza mu bijyanye no gusohora imibonano mpuzabitsina .

Ubuvuzi bw'umubiri n'ubuvuzi bw'akazi ni ingenzi mu kuvura abantu bafite ubumuga bwo mu mutwe (DM). Bishobora kugufasha gukomeza imitsi no kwiga uburyo bushya bwo gukora imirimo ya buri munsi. Ushobora kandi gukomeza kwigenga ukoresheje ibikoresho bigufasha (urugero: imigozi, inkoni, amagare y'abamugaye).

Indwara yo kuvuga (SLP) ishobora gufasha mu bibazo byo kumira (Dysphagia) no mu mivugire idasobanutse (Dysarthria) .

Ese indwara ya myotonic dystrophy ishobora kwirindwa?

Kubera ko indwara ya DM ari indwara umuntu avukana, nta kintu na kimwe wakora kugira ngo uyirinde.

Mbere yo kubyara umwana, niba uhangayikishijwe n'ibyago byo kwanduza abana bawe indwara ya DM cyangwa izindi ndwara zikomoka ku ngirabuzimafatizo, ganira na muganga wawe ku birebana n'ubujyanama ku ngirabuzimafatizo .

Ni iki giteganyijwe kuri iyi ndwara?

Uko indwara ya myotonic dystrophy (DM) ihagaze biterwa n'ubwoko bw'indwara n'imyaka ibimenyetso bitangira. Muri rusange, iyo ibimenyetso bitangiye mu myaka mike, ingaruka zishobora kuba mbi kandi igihe cyo kubaho gishobora kugabanuka.

Abantu bagera kuri 50% barwaye DM1 bazakenera intebe y'abamugaye kugira ngo bagende mbere yuko bapfa. Abantu barwaye DM2 ubusanzwe ntibakenera ibikoresho bibafasha kugira ngo babagendeho kuko ibimenyetso byabo biba byoroheje.

Imyaka yo kubaho k'umuntu ufite Myotonic Dystrophy ni iyihe?

Impuzandengo y'igihe umuntu urwaye DM azakomeza kubaho itandukana bitewe n'ubwoko bw'indwara.

• Mu bana bato bafite DM1 bavukanye, igipimo cy'impfu z'abana bato ni hafi 18%. Abagera kuri 25% by'abafite DM1 bavukanye bapfa batarageza ku mezi 18, naho abagera kuri 50% bapfa batarageza ku myaka 30.
• Abantu bafite DM1 yoroheje basanzwe babaho ubuzima busanzwe.
• Abantu barwaye DM1 ya kera bafite igihe gito cyo kubaho ugereranyije n'abaturage muri rusange.

Ese indwara ya Myotonic Dystrophy ishobora kwica?

Yego, indwara ya myotonic dystrophy (DM) ishobora kwica. Ariko, imyaka urupfu rubaho iratandukanye bitewe n'ubwoko bw'indwara. Impamvu nyamukuru itera urupfu muri DM ni ukunanirwa guhumeka bifitanye isano n'imitsi . Ingorane z'umutima n'imitsi nabyo bishobora kuba impamvu y'urupfu.

Ni ryari ugomba kujya kwa muganga ku bijyanye n'indwara ya myotonic dystrophy?

Niba ufite ibimenyetso bya DM, nko kunanirwa kw'imitsi no kurwara indwara ya myotonia, menya neza ko wagiye kwa muganga.

Niba ufite DM, ugomba guhura n'itsinda ry'abaganga bawe buri gihe kugira ngo urebe neza ko gahunda yawe y'ubuvuzi ikora neza.

Iyo wowe cyangwa umwana wawe mubonye indwara nshya, bishobora kugorana kuyihanganira. Ariko wibuke ko abantu bose bafite indwara ya myotonic dystrophy (DM) bahura n’ingaruka zimwe. Ikintu cyiza wakora ni ukuganira n’inzobere ikora ubushakashatsi ikavura DM. Bashobora kukubwira uburyo bwo kuvura no gusubiza ibibazo byose ushobora kuba ufite.

Reka twibuke ibyo twavuze nk'incamake (Ubutumwa bwo kujyana mu rugo)

• Myotonic dystrophy (DM) ni indwara iterwa n'uturemangingo itera cyane cyane intege nke z'imitsi no gutakaza imbaraga.
• Myotoniya ni indwara ituma imitsi inanirwa kuruhuka nyuma yo kuyikoresha.
• Hari ubwoko bubiri bw'ingenzi bwa DM: DM1 na DM2 . DM1 ifite ubundi bwoko bw'ibinyabutabire.
• Ibimenyetso bishobora gutandukana bitewe n'ubwoko bwa DM ndetse n'umuntu ku wundi.
• Ibi biterwa n'impinduka mu miterere y'uturemangingo.
• Iyi ndwara ipimwa binyuze mu gupima imiterere y'uturemangingo n'ibindi bipimo.
• Nubwo nta muti wuzuye uhari, hari uburyo bwo kuvura bushobora kugabanya ibimenyetso no kunoza ubuzima.
• Niba ufite gushidikanya kuri ibi, shaka ubufasha bwa muganga vuba. Kubimenya hakiri kare ni ingenzi cyane.

Ndizera ko aya makuru azaba ingirakamaro kuri wewe. Komeza ugire ubuzima bwiza!

` Kurwara indwara ya Myotonic, Intege nke z'imitsi, Indwara za Genetic, Kurwara indwara ya Myotonic, Indwara z'imitsi, DM, Indwara z'imitsi