Ngati muli ndi matenda ozunguza thupi kapena mukuganiza kuti muli nawo, muyenera kukaonana ndi dokotala wanu. Kuchitira bwino ndi kumvetsa bwino vuto lanu ndizofunika kwambiri kuti muyang'anire bwino vutoli. Ndipo chinthu chimodzi chofunikira kwambiri kumvetsetsa matendawa ndi kudziwa chomwe chimayambitsa matenda osokoneza bongo.
Kudziwa zambirizi kungathandize kuzindikira chilichonse chomwe chingachitike kuti kuchepetsa chiopsezo chanu chochipeza.
Mitundu ndi ma Genetics
Pali mitundu isanu ndi iwiri yosiyana ndi mawonetseredwe a mitsempha yotupa. Popeza kuti ndi matenda a chibadwa, mtundu umene mumadalira umasintha ndi mtundu wina wa jini. Zinthu zina zingathandizenso, ndipo mtundu uliwonse ukhoza kunyamula matenda osiyana siyana ndi mankhwala.
Mitundu ya mitsempha yotupa imaphatikizapo:
- Myotonic (yomwe imatchedwanso matenda a Steinert)
- Duchenne mitsempha yotsekula m'mimba
- Becker
- Limb-girdle
- Congenital
- Oculopharyngeal
- Facioscapulohumeral
- Kusiyana
- Emery-Dreifuss
Zomwe Zimayambitsa
Kuti mumvetse zomwe zimayambitsa matenda osokoneza maganizo, muyenera kumvetsa mmene matendawa amakhudzira minofu yanu. Monga tanenera, chikhalidwechi chimadziwika ndi kufookera kopitirirabe ndi kuwonongeka kwa maselo a minofu. Koma n'chiyani chimayambitsa minofu imeneyi?
Dystrophin Ndi Chiyani?
Minofu yanu imapangidwa ndi mitolo ya minofu. Nsaluzi zimaphimbidwa m'chimake, ndipo kuzungulira chimake ndizosiyana siyana monga mitsempha ndi mapuloteni.
Izi zimathandiza mitsempha ya minofu-ndi minofu yanu-mgwirizano bwino.
Dystrophin ndi mapuloteni amodzi ozungulira minofu yanu. Choyamba chodziwika mu 1986, chimadziwika kuti chimaphatikizapo mgwirizano pakati pa gawo la kunja kwa minofu ndi matrix omwe amatha kukhalapo. Udindo wa mapuloteni ndi kutulutsa zowonongeka ndi zomangamanga kuti thupi lanu likhale bwino.
Dystrophin imachotsa mphamvu ya kupweteka kwa minofu kuchokera mkati mwa minofu yanu ya kunja kwa minofu, zomwe zimapangitsa kuti thupi lanu likhale lopweteka kwambiri. Kulephera kwa dystrophin kumayambitsa Duchenne muscular dystrophy pamene kupanga dystrophin yolakwika kumabweretsa Becker's muscular dystrophy.
Ziwalo zina zosadziwika za majeremusi ndi mapuloteni amaganiza kuti zimayambitsa mitundu ina ya mitsempha yotupa.
Genetics
Ndiye kodi majini amachititsa bwanji mwayi wanu komanso zomwe zimachititsa kuti thupi lanu lizizira kwambiri? Poyambirira, ma genetic osokoneza bongo omwe amachititsa kuti thupi likhale ndi mitsempha yambiri imakhala pa X chromosome . (Kumbukirani kuti mumakhala ndi chromosome imodzi kuchokera kwa kholo lililonse, ndipo X imakhala ndi ma chromosome kuchokera kwa amayi anu.) Ngati X chromosome imachokera kwa bambo anu, mukhala azimayi, Y chromosome kuchokera kwa bambo anu imakupangitsani mwamuna.)
Amuna omwe ali ndi jini yowonongeka pamtundu wa X chromosome adzakhala ndi matendawa. Adzapatsanso jiniyo kwa ana amasiye. Iwo sangathe kudutsa mwana wamwamuna, monga abambo amapereka ana awo aamuna a Y chromosome. Akazi akhoza kukhala ndi jini pa chithandizo chimodzi cha X chromosome ndikunyamula matenda popanda kupereka nawo. Ngati ma chromosome a X ali ndi mkazi ali ndi jini lopanda vutoli, amakhala ndi mwayi wowonetsa zizindikiro za mitsempha yotchedwa muscular dystrophy.
Ndi malingaliro awa, mkazi ali ndi mwayi wa 50 peresenti yopatsira X chromosome kwa mwana wamwamuna kapena wamkazi.
Nthawi zina matenda otupa mitsempha amatuluka ngakhale pamene palibe mbiri ya banja la matendawa. Izi zingachitike chifukwa chimodzi mwazifukwa ziwiri, monga:
- Kusintha kwathu kwakhala kanthawi kochepa kwa mibadwo ya X chromosome ya mayi.
- Kusinthika kwake kunachitika ngati vuto latsopano m'ma maselo a mazira a mayi.
Kumbukirani kuti pali zochepa zomwe mungathe kuchita kuti musinthe mausinthane omwe amachititsa ma chromosomes anu. Pamene kusinthika kumachitika, pali mwayi kuti muwonetsere zina za matendawa.
Zochitika Zowopsa Kwamoyo
Popeza pali chibadwa chothandizira kuti thupi likhale lopweteka kwambiri, palibe kusintha kwa moyo komwe mungachite pofuna kuchepetsa mwayi wanu wochipeza. Ngati zojambulazo zilipo ndipo zimakhudza ma chromosome ena m'thupi lanu, mukhoza kupeza mitsempha yotupa.
Komabe, ofufuza apeza zifukwa zomwe zimayambitsa mavuto komanso imfa yoyamba ngati muli ndi matenda ozunguza thupi. Mu kafukufuku wa 2017 wofalitsidwa ndi J wathunal wa American Heart Association , ofufuza anapeza zitatu zomwe zimawopsya zomwe zinalipo mwa anthu omwe ali ndi Duchenne muscular dystrophy amene anapeza zotsatira zovuta kuphatikizapo kufa msanga. Izi zikuphatikizapo:
- Kukhala wonenepa kwambiri ngati kuyesedwa ndi ndondomeko ya misala ya thupi
- Kukhala ndi mapapo osauka ntchito
- Kukhala ndi mapuloteni apamwamba a magazi okhudzana ndi kuwonongeka kwa mtima
Anthu omwe ali ndi Duchenne muscular dystrophy angakhale ndi zotsatira zabwino komanso amakhala ndi moyo wautali ngati thupi lawo likugwira ntchito, mapapo amatha, ndi kulemera kwabwino. Izi zingatheke pothandizidwa ndi dokotala wanu ndi gulu lachipatala.
Kumvetsetsa chimene chimayambitsa mitsempha yambiri kumathandiza kuti maganizo anu akhale omasuka. Ndi matenda obadwa nawo omwe amadziwika ndi majini. Izi zimasiya zochepa zomwe mungachite kuti zisachitike, koma ngati muli ndi matenda ozunguza thupi, muyenera kugwira ntchito limodzi ndi dokotala ndi gulu lanu la zamankhwala kuti muwonjeze ntchito yanu yonse ndi zotsatira zake.
> Chitsime:
> Cheeran, D., et al. Anthu Omwe Amamwalira Ambiri Amakhala ndi Duchenne Muscular Dystrophy-Associated Cardiomyopathy. Journal of the American Heart Association , 2017; 6 (10): e006340 DOI: 10.1161 / JAHA.117.006340