Kodi minofu yanu ikufookanso? ​​Izi zitha kukhala myotonic dystrophy!

Kodi munayamba mwamvapo ngati miyendo yanu yolimba kale ikuyamba kuchita dzanzi pang'onopang'ono kapena kufooka? Kapena nthawi zina mumavutika kutsegula dzanja lanu mukagwira chinthu mwamphamvu? Izi ndi zinthu zomwe nthawi zina sitimaziganizira kwambiri, koma zitha kukhala zizindikiro za matenda otchedwa Myotonic Dystrophy . Tiyeni tikambirane za izi mwatsatanetsatane komanso lero.

Kodi Myotonic Dystrophy ndi chiyani?

Mwachidule, Myotonic Dystrophy (DM) ndi matenda ovuta a majini. Chofunika kwambiri pa izi ndichakuti minofu m'thupi lathu imafooka pang'onopang'ono. Minofu ya anthu omwe ali ndi matendawa singapumule nthawi yomweyo akangogwiritsa ntchito, koma imatha kukhalabe yolimba. Timatcha izi myotonia . Zili ngati kugwira chogwirira chitseko mwamphamvu ndikuyesera kutsegula chimatenga nthawi.

Zizindikiro za myotonic dystrophy (DM) zimatha kukhala zosiyanasiyana. Zingakhudze ziwalo zosiyanasiyana m'thupi lathu. Mwachitsanzo:

• Minofu yathu ya mafupa (minofu yomwe timailamulira mwadala) ndi minofu ya mtima.
• Maso.
• Matenda a mtima (matenda ozungulira magazi).
• Dongosolo la endocrine (dongosolo la mahomoni).
• Dongosolo lapakati la mitsempha (ubongo ndi msana).

Kodi pali mitundu ina ya myotonic dystrophy?

Inde, pali mitundu iwiri ikuluikulu ya DM:

1. Myotonic dystrophy mtundu 1 (DM1): Imeneyi imatchedwanso matenda a Steinert . DM1 ilinso ndi mitundu inayi:

• Mtundu wakale
• Mtundu wofatsa
• Mtundu wobadwa nawo (womwe ulipo panthawi yobadwa)
• Mtundu wa ubwana

2. Myotonic dystrophy mtundu wachiwiri (DM2): Izi zimatchedwanso proximal myotonic myopathy .

Zizindikiro za mitundu yonse iwiri nthawi zina zimakhala zofanana. Komabe, DM2 nthawi zambiri imakhala yochepa pang'ono kuposa DM1, zomwe zikutanthauza kuti zizindikiro zake sizowopsa kwambiri.

Kodi pali kusiyana kotani pakati pa Muscular Dystrophy ndi Myotonic Dystrophy?

Ichi ndi chinthu chomwe chimasokoneza anthu ambiri. Matenda a muscular dystrophy ndi gulu la matenda obadwa nawo (majini). Gululi lili ndi mitundu yoposa 30 ya matenda. Onsewa amayambitsa kufooka kwa minofu. Izi zimagwera m'gulu la myopathy , lomwe ndi matenda a minofu yathu ya mafupa. Pakapita nthawi, minofu imachepa ndikufooka. Izi zimapangitsa kuti kuyenda ndi kuchita ntchito za tsiku ndi tsiku zikhale zovuta. Nthawi zina mtima ndi mapapo zimathanso kukhudzidwa.

Kusokonezeka kwa MyotonicNdi mtundu wa matenda omwe ali m'gulu la muscular dystrophy lomwe latchulidwa kale. Chapadera ndichakuti pakati pa muscular dystrophys yomwe imayamba munthu akakula, myotonic dystrophy iyi ndiyo yofala kwambiri. (Komabe, mitundu ina ya DM imayambanso kuyambira ali mwana kapena ali mwana).

Kodi ndani angadwale matenda a myotonic dystrophy? Kodi pali kusiyana kwa zaka?

Mitundu yosiyanasiyana ya DM ingayambe pa msinkhu wosiyana. Tiyeni tiwone momwe:

• Mtundu woyamba wa matenda a myotonic dystrophy (Classic DM1): Izi nthawi zambiri zimayamba m'ma 20, 30, kapena 40.
• Matenda a myotonic dystrophy amtundu woyamba (Mild DM1): Izi zitha kukhudza anthu azaka zapakati pa 20 ndi 70, koma nthawi zambiri amapezeka atatha zaka 40.
• Congenital myotonic dystrophy type 1 (Congenital DM1): Monga momwe mawu oti "congenital" akusonyezera, uwu ndi mtundu womwe umakhudza makanda. Izi zikutanthauza kuti umakhalapo kuyambira kubadwa.
• Matenda a myotonic dystrophy a ubwana mtundu 1 (Childhood DM1): Izi nthawi zambiri zimayamba pafupifupi zaka 10.
• Matenda a myotonic dystrophy mtundu wachiwiri (DM2): Izi zimayambanso munthu akakula. Zizindikiro nthawi zambiri zimayamba ali ndi zaka pafupifupi 48.

Kodi matendawa ndi ofala bwanji?

Matenda a myotonic dystrophy (DM) amakhudza munthu m'modzi pa anthu 8,000 padziko lonse lapansi. Komabe, chiwerengerochi chimasiyana malinga ndi dera komanso fuko. Matenda a m'mitsempha ndi mtundu wofala kwambiri wa matenda a m'mitsempha pakati pa anthu ochokera ku Ulaya.

M'magulu ambiri a anthu, matenda a DM type 1 (DM1) ndi ofala kwambiri kuposa matenda a DM type 2 (DM2).

Kodi zizindikiro za Myotonic Dystrophy ndi ziti?

Izi ndi zizindikiro zazikulu za DM. Zimakula pang'onopang'ono pakapita nthawi, zomwe zikutanthauza kuti zimakhala zoopsa kwambiri:

• Kufooka kwa minofu: Kutaya minofu.
• Kufooka kwa minofu: Kuchepa kwa mphamvu ya minofu.
• Myotonia: Takambirana kale za izi. Kulephera kumasula minofu mwadala. Mwachitsanzo, munthu amene ali ndi vuto la DM akagwira chogwirira chitseko, zimakhala zovuta pang'ono kusiya.

Komabe, chifukwa DM imakhudza ziwalo zosiyanasiyana za thupi, zizindikiro zina zosiyanasiyana zimatha kuchitika. Kuopsa kwa zizindikirozi ndi kuchuluka kwa matendawa zimasiyana malinga ndi mtundu wa DM.

Zizindikiro za Classic Myotonic Dystrophy Type 1

Zizindikiro zamtunduwu zimayamba munthu akakula. Myotonia ndiye chizindikiro chachikulu chomwe chimayamba kuonekera. Izi zimaonekera kwambiri munthu akapuma ndipo zimatha kuchepa pang'ono minofu ikagwira ntchito.

Zizindikiro zina ndi izi:

• Kufooka kwa minofu yakutali:Izi zikutanthauza kuti minofu yomwe ili kutali ndi pakati pa thupi (monga minofu ya m'manja ndi miyendo) imafooka. Izi zimapangitsa kuti zikhale zovuta kuchita ntchito zovuta ndi manja (monga kukanikiza mabatani, kulemba). Zimathandizanso kuti kuyenda kukhale kovuta chifukwa cha vuto lotchedwa kugwa kwa phazi (ngati kuti pansi pa phazi likukoka pansi).
• Kufooka kwa minofu ya nkhope kumapangitsa kuti nkhope ikhale yopyapyala komanso yowongoka (nkhope ya myopathic) .
• Kusakhazikika kwa kayendedwe ka mtima .

Zizindikiro za Congenital Myotonic Dystrophy Type 1

Popeza mtundu uwu umapezeka panthawi yobadwa, mwana akhoza kusonyeza zizindikiro zina akadali m'mimba:

• Kuchepa kwa kayendedwe ka mwana wosabadwa m'mimba.
• Polyhydramnios ndi kuchuluka kwa madzi amniotic ozungulira mwana wosabadwayo panthawi ya mimba.
• Phazi la Clubphazi ( phazi lotembenukira mkati).
• Ventriculomegaly (kukula kwa ma ventricle a ubongo) (chifukwa cha kuchulukana kwa madzi a m'mitsempha ya ubongo).

Zizindikiro zomwe zimawonedwa mwa ana ndi akuluakulu atabadwa:

• Mlomo wapamwamba umaoneka ngati hema chifukwa cha kufooka kwa minofu ya nkhope.
• Kulankhula movutikira (Dysarthria) .
• Kulephera kwa nzeru.
• M'malo mwa myotonia, pali kuchepa kwa minofu (Hypotonia) .

Zizindikiro za Mild Myotonic Dystrophy Type 1

Zizindikiro zamtunduwu nthawi zambiri zimayamba pakati pa zaka 20 ndi 70. Izi zikuphatikizapo:

• Kufooka pang'ono kwa minofu.
• Myotonia (Myotonia).
• Matenda a maso .

Zizindikiro za Ubwana wa Myotonic Dystrophy Type 1

Zizindikiro zamtunduwu nthawi zambiri zimayamba pafupifupi zaka 10. Zikuphatikizapo:

• Mavuto ophunzirira ndi mavuto a maganizo ndi maganizo (monga mavuto a m'banja, kuvutika maganizo, nkhawa).
• Kulankhula molakwika.
• Kupweteka kwa minofu ya manja.
• Kusakhazikika kwa kayendedwe ka mtima .

Zizindikiro za Myotonic Dystrophy Type 2

Zizindikiro za matenda a mtundu wa 2 DM nthawi zambiri zimayamba munthu akakula ndipo zimatha kusiyana.

Zizindikiro zake zingakhale izi:

• Kufooka kapena kulimba kwa minofu pafupi ndi pakati pa thupi (monga minofu yozungulira chiuno ndi mapewa).
• Kupweteka kwa myofascial (kupweteka kwa minofu ndi minofu yolumikizana) .
• Kuyamba msanga kwa matenda a maso (asanafike zaka 50).
• Myotonia ya madigiri osiyanasiyana imachitika mukagwira chinthu ndi dzanja.
• Kulephera kumva.

Ululu ndi vuto lalikulu pakati pa anthu omwe ali ndi DM2. Anthuwa amanena kuti amamva kupweteka m'mimba, minofu ya mafupa, komanso panthawi yochita masewera olimbitsa thupi.

Kodi n’chiyani chimayambitsa matenda a Myotonic Dystrophy?

Myotonic dystrophy (DM) ndi matenda a majini , zomwe zikutanthauza kuti amapatsirana kuchokera kwa makolo kupita kwa ana kudzera m'majini.

Mtundu wa DM 1 (DM1) umayamba chifukwa cha kusintha kwa majini otchedwa DMPK . Mtundu wa DM 2 (DM2) umayamba chifukwa cha kusintha kwa majini otchedwa CNBP .

Kusintha kofanana ndi kapangidwe ka majini onse awiri, DMPK ndi CNBP, ndi komwe kumayambitsa DM1 ndi DM2. Pazochitika zonse ziwiri, gawo la DNA limabwerezedwa kangapo mwanjira yosazolowereka. Izi zimapangitsa kuti dera losakhazikika mu jini likhale. Gawoli la DNA likabwerezedwa mozosazolowereka, zizindikiro za DM zimakhala zoopsa kwambiri.

Umboni wa sayansi umasonyeza kuti kuchuluka kwa RNA yotumizidwa ndi DNA yobwerezabwereza kumeneku ndi koopsa. Izi zimasokoneza kupanga mapuloteni osiyanasiyana m'maselo, zomwe zimayambitsa zizindikiro za myotonic dystrophy m'ziwalo zosiyanasiyana.

Momwe matendawa amapatsidwira kuchokera ku mibadwomibadwo (Cholowa cha Myotonic Dystrophy)

Mitundu yonse iwiri ya DM imabadwa ndi mtundu wotchedwa autosomal dominant . Mu mtundu uwu, kholo limodzi lokha ndilo liyenera kukhala ndi jini lomwe lakhudzidwa kuti matendawa apatsidwe kwa mwana. Theka la ana a kholo lomwe lili ndi khalidwe lolamulira la autosomal lidzalandira khalidweli.

Pamene matenda a myotonic dystrophy mtundu 1 (DM1) amafalikira kuchokera ku mbadwo wina kupita ku wina, nthawi zambiri amayamba kuchepa ndipo zizindikiro zimakula kwambiri. Chochitikachi chimatchedwa kuyembekezera . Zili ngati kuti matendawa "akufulumira" kuchokera ku mbadwo wina kupita ku wina.

Kodi matenda a Myotonic Dystrophy amawapeza bwanji? (Kuzindikira)

Ngati muli ndi zizindikiro za DM, dokotala adzayamba kukuyang'anirani ndikukufunsani za:

• Mbiri yanu yazaumoyo.
• Mbiri ya matenda a m'banja, makamaka ngati wina aliyense m'banjamo ali ndi DM.
• Zizindikiro zanu.

Pambuyo pake, mayeso ena azachipatala angachitike kuti atsimikizire kupezeka kwa DM.

Ndi mayeso amtundu wanji omwe amachitidwa?

Kuyezetsa majini kungatsimikizire kupezeka kwa DM. Mayesowa amafufuza kusintha kwa majini a DMPK (a DM1) kapena jini ya CNBP (a DM2).

Ngati dokotala wanu akukayikira kuti muli ndi DM kapena matenda ena, akhoza kuchita mayeso amodzi kapena angapo asanakutumizireni kuti mukayesedwe majini:

• Kuyezetsa magazi a Creatine kinase: Creatine kinase ndi enzyme yomwe imapezeka makamaka mumtima ndi m'minofu ya mafupa. Maselo a minofu awa akawonongeka, enzyme iyi imasonkhana m'magazi. Anthu omwe ali ndi DM yocheperako akhoza kukhala ndi kuchuluka kumeneku pang'ono, kapena kungakhale kwabwinobwino.
• Electromyogram (EMG):Mu mayeso awa, maelekitirodi owonda ngati singano amaikidwa mu minofu ndipo ntchito yamagetsi ya ulusi wa minofu imayesedwa. Anthu omwe ali ndi DM nthawi zambiri amakhala ndi mphamvu zamagetsi zambiri komanso zochepa m'minofu yawo, ngakhale atakhala kuti akupuma.
• Kufufuza minofu: Pa izi, dokotala amatenga chitsanzo cha minofu yanu ndikuyang'ana pansi pa maikulosikopu kuti aone ngati pali zizindikiro za DM.

Kodi mayeso ena adzachitika matendawa akatsimikizika?

Inde, ngati mayesowa atsimikizira kuti DM ndi yolondola, dokotala wanu angakulangizeni mayeso ena kuti awone momwe ziwalo zina zomwe zingakhudzidwe ndi DM zimagwirira ntchito. Mwachitsanzo:

• Kuyezetsa kwa electrocardiogram (ECG) kuti muwone momwe mtima ukugwira ntchito.
• Kuyezetsa ntchito ya m'mapapo kuti muwone ngati pali mavuto a kupuma kwa mitsempha ndi minofu.
• Kafukufuku wokhudza kugona kuti aone ngati pali vuto la kupuma movutikira komanso kugona kwambiri masana.

Kodi pali chithandizo cha Myotonic Dystrophy?

Mwatsoka, palibe mankhwala a myotonic dystrophy (DM). Chifukwa chake, zolinga zazikulu za chithandizo ndi izi:

• Kusamalira zizindikiro.
• Kusunga moyo wabwino kwambiri komanso kudziyimira pawokha.

Popeza DM imakhudza ziwalo zosiyanasiyana za thupi, mankhwala amatha kusiyana malinga ndi zizindikiro zanu. Izi zingaphatikizepo:

• Mankhwala ochepetsa myotonia yosatha. Mwachitsanzo, sodium channel blockers monga Mexiletine , Tricyclic antidepressants , Benzodiazepines , kapena Calcium antagonists .
• Makina a CPAP oletsa kupuma movutikira.
• Zolimbikitsa monga methylphenidate kuti munthu agone kwambiri masana.
• Opaleshoni ya cataract ndi opaleshoni yochotsa kataract yomwe imalepheretsa maso kuona.
• Chithandizo cha matenda a shuga. Izi zingafunike mapiritsi ndi/kapena insulin . Anthu omwe ali ndi DM ali pachiwopsezo chachikulu chotenga matenda a shuga chifukwa cha kukana insulin .
• Mankhwala a testosterone a hypogonadism ya amuna . Amuna omwe ali ndi DM1 nthawi zambiri amakhala ndi testosterone yochepa komanso kusowa mphamvu zokodza .

Kuchiza thupi ndi chithandizo cha ntchito ndi njira zofunika kwambiri zothandizira anthu omwe ali ndi vuto la DM kuti azitha kudzidalira kwambiri. Zingakuthandizeni kulimbitsa minofu yanu ndikuphunzira njira zatsopano zogwirira ntchito za tsiku ndi tsiku. Muthanso kudzidalira nokha pogwiritsa ntchito zida zothandizira (monga zomangira, ndodo, mipando ya olumala).

Matenda a kulankhula (SLP) angathandize ndi mavuto omeza (Dysphagia) ndi kulankhula movutikira (Dysarthria) .

Kodi kukula kwa myotonic dystrophy kungapewedwe?

Popeza DM ndi matenda obadwa nawo, palibe chomwe mungachite kuti mupewe.

Musanakhale ndi mwana, ngati mukuda nkhawa ndi chiopsezo chopatsira ana anu matenda a DM kapena matenda ena a majini, lankhulani ndi dokotala wanu za upangiri wa majini .

Kodi chiyembekezo cha matendawa ndi chiyani?

Chiyembekezo cha matenda a myotonic dystrophy (DM) chimadalira mtundu wa matenda ndi zaka zomwe zizindikiro zimayambira. Kawirikawiri, ngati zizindikiro zimayamba ali aang'ono, zotsatira zake sizingakhale zabwino ndipo nthawi yoti munthu akhale ndi moyo ingachepe.

Pafupifupi 50% ya anthu omwe ali ndi DM1 amafunikira njinga ya olumala kuti ayende asanamwalire. Anthu omwe ali ndi DM2 nthawi zambiri safuna zida zothandizira kuti ayende chifukwa zizindikiro zawo ndi zochepa.

Kodi munthu amene ali ndi matenda a Myotonic Dystrophy amakhala ndi moyo wautali bwanji?

Avereji ya nthawi ya moyo wa munthu amene ali ndi DM imasiyana malinga ndi mtundu wa matenda.

• Pakati pa makanda omwe ali ndi DM1 yobadwa nayo, chiwerengero cha imfa za makanda obadwa nawo ndi pafupifupi 18%. Pafupifupi 25% ya omwe ali ndi DM1 yobadwa nayo amamwalira asanakwanitse miyezi 18, ndipo pafupifupi 50% amamwalira asanakwanitse zaka 30.
• Anthu omwe ali ndi DM1 yocheperako nthawi zambiri amakhala ndi moyo wabwinobwino.
• Anthu omwe ali ndi matenda a Classic DM1 amakhala ndi moyo wautali kuposa anthu onse.

Kodi Myotonic Dystrophy ingakhale yoopsa?

Inde, matenda a myotonic dystrophy (DM) amatha kupha anthu. Komabe, zaka zomwe imfa imachitikira zimasiyana malinga ndi mtundu wa matenda. Chifukwa chachikulu cha imfa mu DM ndi kulephera kupuma komwe kumakhudzana ndi mitsempha ndi minofu . Mavuto a mtima ndi mitsempha yamagazi nawonso akhoza kukhala chifukwa cha imfa.

Kodi muyenera kupita kwa dokotala liti pankhani ya myotonic dystrophy?

Ngati muli ndi zizindikiro za DM, monga kufooka kwa minofu ndi myotonia, onetsetsani kuti mwawonana ndi dokotala.

Ngati muli ndi DM, muyenera kukumana ndi gulu lanu lachipatala nthawi zonse kuti muwonetsetse kuti dongosolo lanu la chithandizo likugwira ntchito bwino.

Inu kapena mwana wanu mukamalandira matenda atsopano, zimakhala zovuta kupirira. Koma kumbukirani kuti si aliyense amene ali ndi matenda a myotonic dystrophy (DM) amene amakhudzidwa mofanana. Chinthu chabwino kwambiri chomwe mungachite ndikulankhula ndi katswiri yemwe amafufuza ndikuchiza matenda a DM. Angakuuzeni za njira zochiritsira ndikuyankha mafunso aliwonse omwe mungakhale nawo.

Tiyeni tikumbukire zomwe tidakambirana mwachidule (Uthenga Wopita Nawo Kunyumba)

• Myotonic dystrophy (DM) ndi matenda a majini omwe amayambitsa kufooka kwa minofu ndi kufooka kwa minofu.
• Myotonia ndi vuto lomwe minofu imavutika kupumula mukatha kugwiritsa ntchito.
• Pali mitundu iwiri ikuluikulu ya DM: DM1 ndi DM2 . DM1 ili ndi mitundu ina.
• Zizindikiro zimatha kusiyana malinga ndi mtundu wa DM komanso munthu ndi munthu.
• Izi zimachitika chifukwa cha kusintha kwa majini.
• Matendawa amapezeka kudzera mu mayeso a majini ndi mayeso ena.
• Ngakhale kuti palibe mankhwala athunthu, pali mankhwala omwe angathandize kuchepetsa zizindikiro ndikukweza moyo.
• Ngati muli ndi kukayikira kulikonse pankhaniyi, funsani upangiri wa dokotala nthawi yomweyo. Kuzindikira msanga ndikofunikira kwambiri.

Ndikukhulupirira kuti izi zikuthandizani. Khalani ndi thanzi labwino!

Kufooka kwa Minofu, Matenda a Majini, Kufooka kwa Minofu, Matenda a Minofu, DM, Matenda a Mitsempha