Kodi thupi lanu likumva ngati kuti silikulamulirika? Kodi ndi matenda a Machado-Joseph?

Kodi munayamba mwamvapo ngati mukulephera kudziletsa, ziwalo zanu zitachita dzanzi, kapena mawu anu anali osamveka bwino mukamalankhula? Ngakhale zinthuzi zingawoneke ngati zinthu wamba, nthawi zina zimatha kukhala zizindikiro za matenda. Lero tikambirana za matenda ovuta pang'ono, koma ofunikira kwambiri kudziwa. Umenewo ndi matenda a Machado-Joseph (MJD) .

Kodi matenda a Machado-Joseph (MJD) ndi chiyani?

Mwachidule, matenda a Machado-Joseph (MJD) ndi matenda obadwa nawo omwe amakhudza dongosolo lathu la mitsempha . Amagwera m'gulu lotchedwa ataxia . "Ataxia" ikhoza kukhala mawu atsopano kwa inu. Amatanthauza kuti mphamvu ya thupi lathu yolamulira minofu imachepa pang'onopang'ono. Taganizirani ngati thupi lathu likutaya mgwirizano. Izi zingatipangitse kutaya mgwirizano ndikutaya mphamvu ya ziwalo zathu.

Makamaka mu MJD, manja ndi miyendo yathu zimachepa pang'onopang'ono. Izi zimapangitsa odwala kuyenda mozungulira komanso mozungulira . Anthu ena angavutikenso kumeza ndi kulankhula.

Matenda a MJD awa ali ndi dzina lina, lomwe ndi Spinocerebellar Ataxia mtundu wachitatu. Ndipotu, MJD iyi ndi mtundu wofala kwambiri wa matenda awa otchedwa spinocerebellar ataxia.

Kodi pali mitundu yosiyanasiyana ya matenda a Machado-Joseph (MJD)?

Inde, matenda a Machado-Joseph akhoza kugawidwa m'magulu atatu akuluakulu. Magulu awa amadalira zaka zomwe akuyamba komanso kuopsa kwa zizindikiro.

• Mtundu Woyamba (MJD-I): Mtundu uwu nthawi zambiri umayamba pakati pa zaka 10 ndi 30. Zizindikiro zimatha kukhala zoopsa kwambiri ndipo zimakula mofulumira .
• Mtundu Wachiwiri (MJD-II): Izi nthawi zambiri zimayamba pakati pa zaka 20 ndi 50. Zizindikiro zimakula pang'onopang'ono pakapita nthawi.
• Mtundu Wachitatu (MJD-III): Mtundu uwu umayamba pakati pa zaka 40 ndi 70. Zizindikiro zimakula pang'onopang'ono pakapita nthawi .

Tsopano mwina mukumvetsa kuti kuyambika kwa zizindikiro ndi mtundu wawo ndizosiyana pa mtundu uliwonse wa matenda atatuwa.

Kodi zizindikiro za matenda a Machado-Joseph (MJD) ndi ziti?

Zizindikiro zomwe mumakumana nazo zimadalira mtundu wa MJD womwe muli nawo.

Zizindikiro za mtundu woyamba (MJD-I)

Zizindikiro zamtunduwu zimakhala zoopsa ndipo zimakula mofulumira. Zingaphatikizepo:

• Kupweteka kwa minofu m'manja ndi m'miyendo kosalamulirika (dystonia) .
• Kuuma kwa minofu (kuuma kwa minofu) .
• Kukhala ndi minofu yambiri (hypertonia) .
• Kusuntha kwa thupi kosazolowereka komanso kosalamulirika (ataxia) .
• Kuyenda movutikira, mopanda chidwi.
• Kulankhula kosokoneza, kulankhula kosokoneza.
• Kuvuta kumeza chakudya (dysphagia) .
• Maso otuluka (proptosis) .

Zizindikiro za mtundu wachiwiri (MJD-II)

Zizindikiro zamtunduwu zimakula pang'onopang'ono pakapita nthawi. Zingaphatikizepo izi:

• Kuchepa kwa minofu kosalamulirika komanso kosalekeza (kuchepa kwa minofu) .
• Kuvutika kuyenda chifukwa cha kufooka kwa minofu (spastic gait).
• Kufooka kwa ma reflexes.
• Kuvuta kulumikiza mayendedwe a manja ndi miyendo (ataxia) .

Zizindikiro za mtundu wachitatu (MJD-III)

Zizindikiro zamtunduwu zimakulanso pakapita nthawi. Zingaphatikizepo izi:

• Kugwedezeka kwa minofu.
• Kusanza, kumva kuwawa, kupweteka, ndi dzanzi m'manja, mapazi, miyendo, ndi mapazi (neuropathy) .
• Kutaya minofu (kutayika kwa minofu - kufooka ).
• Kuyenda kosakhazikika.

Zizindikiro zina zodziwika bwino

Kuwonjezera pa mitundu iyi, odwala a MJD akhoza kukhala ndi zizindikiro zina zingapo:

• Kuona kawiri (diplopia) .
• Kulephera kulamulira mayendedwe a maso (nystagmus) .
• Kunjenjemera kwa dzanja.
• Mavuto okhudzana ndi kulinganiza bwino zinthu komanso kugwirizana.
• Kugwedezeka kwa lilime kapena nkhope.
• Matenda ogona.
• Kupweteka kwa msana kosatha.

Chofunika: Zizindikirozi zikachitika limodzi, mungadzifunse ngati ndi zizindikiro za matenda ena amitsempha, monga multiple sclerosis kapena matenda a Parkinson . Chifukwa chake, ngati muyamba zizindikiro zatsopano kapena ngati chizindikiro chomwe chilipo chikukulirakulira, makamaka ngati chikukhudza kuyenda kwanu ndi momwe thupi lanu limagwirira ntchito, pitani kwa dokotala nthawi yomweyo.

Kodi n’chiyani chimayambitsa matenda a Machado-Joseph (MJD)?

Chifukwa chachikulu cha matendawa ndi kusintha kwa majini athu. Zili ngati cholakwika chaching'ono mu code ya kompyuta chomwe chingasokoneze pulogalamu yonse.

Makamaka, kusintha kumeneku kumachitika mu jini yotchedwa ATXN3 pa chromosome yathu 14. Mu gawo la DNA mu jini iyi, pali kubwerezabwereza kwa trinucleotide kotchedwa "CAG".Chinthu chomwe chimanenedwa kuti chimabwerezedwa kangapo mwanjira yachilendo. CAG imayimira mankhwala atatu a Cytosine-Adenine-Guanine.

Mu DNA ya munthu wopanda MJD, kubwerezabwereza kwa CAG kumeneku kumabwerezedwa pakati pa nthawi 12 ndi 43. Komabe, mu DNA ya munthu amene ali ndi MJD, kubwerezabwereza kwa CAG kumeneku kumabwerezedwa pakati pa nthawi 56 ndi 86. Zaka zomwe mumayamba kukhala ndi zizindikiro komanso kuopsa kwa matendawa zimagwirizana mwachindunji ndi kuchuluka kwa kubwerezabwereza kwa CAG.

Matendawa amatengera cholowa mwa njira yolamulira autosomal . Izi zikutanthauza kuti mwana amafunika kholo limodzi lokha kuti akhale ndi jini yoti matendawa apitirire. Ngati muli ndi MJD, mwana wanu ali ndi mwayi wa 50% wotengera matendawa.

Ndani ali pachiwopsezo chachikulu chotenga matenda a Machado-Joseph (MJD)?

Matenda a MJD amapezeka kwambiri mwa anthu a fuko la Azorean kapena Portugal . Pachilumba cha Flores ku Azores, akuti munthu m'modzi pa anthu 140 aliwonse ali ndi matendawa. Komabe, izi sizikutanthauza kuti mafuko ena sakhudzidwa. Amatha kukhudza anthu a fuko lililonse.

Kodi matenda a Machado-Joseph (MJD) amapezeka bwanji?

Mukapita kwa dokotala, adzakufunsani za zizindikiro zanu ndikukuyesani. Popeza vutoli limapezeka m'mabanja, ndikofunikira kukambirana za mbiri yanu ya banja. Ngati wina aliyense m'banja mwanu ali ndi zizindikirozi, ndikofunikiranso kufunsa za nthawi yomwe zizindikiro zake zinayamba komanso momwe zinakulira mofulumira.

Kuti atsimikizire matendawa, dokotala wanu angakulangizeni kuti muyesedwe majini a matenda a Machado-Joseph . Mayeso a majini awa angayang'ane kuchuluka kwa ma CAG triplet repeats okayikitsa pa chromosome 14 yanu.

Kodi matenda a Machado-Joseph (MJD) amachiritsidwa bwanji?

Mwatsoka, palibe mankhwala a matenda a Machado-Joseph. Chithandizo cha MJD cholinga chake ndi kuthana ndi zizindikiro zomwe muli nazo. Mankhwala angaphatikizepo:

• Mankhwala monga Baclofen (Lioresal®) kapena Botulinum toxin (Botox®) amathandiza kuchepetsa dystonia ndi kupweteka kwa minofu komwe kwatchulidwa pamwambapa.
• Chithandizo cha Levodopa chimathandiza kuchepetsa kuchedwa ndi kuuma kwa mayendedwe a thupi.

Kuphatikiza apo, chithandizo cha thupi ndi zida zothandizira zingathandize odwala kuchita zinthu za tsiku ndi tsiku komanso kuyendayenda. Pa mavuto a maso, magalasi a prism angathandize kuchepetsa masomphenya awiri kapena maso osawona bwino.

Funsani dokotala wanu za mayeso azachipatala omwe akuchitidwa pa matendawa.

Kodi munthu amene ali ndi matenda a Machado-Joseph (MJD) amakhala ndi moyo wautali bwanji?

Moyo wa munthu amene ali ndi matenda a MJD umadalira mtundu wa matenda omwe ali nawo. Anthu omwe ali ndi matenda a mtundu woyamba amatha kukhala ndi moyo wautali, mwina ali ndi zaka zapakati pa 30. Komabe, anthu omwe ali ndi matenda a mtundu wachiwiri kapena wachitatu nthawi zambiri amakhala ndi moyo wabwinobwino.

Kodi matenda a Machado-Joseph (MJD) angapewedwe?

Popeza MJD ndi matenda obadwa nawo m'majini, sizotheka kupewa. Ngati mukuda nkhawa kuti ana anu angalandire matendawa, ndikofunikira kulankhula ndi mlangizi wa majini musanakonzekere kutenga pakati. Pakhoza kukhala njira zopewera kuti MJD isapatsire ana anu kudzera mu kuyezetsa majini pogwiritsa ntchito In Vitro Fertilization (IVF) .

Kodi ndiyenera kupita kwa dokotala liti?

Ngati muli ndi zizindikiro zilizonse za matenda a Machado-Joseph, pitani kwa dokotala. Ngati wina m'banja mwanu ali ndi matendawa, ndi bwino kulankhula ndi dokotala wanu za chiopsezo chanu chotenga matendawa.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Ngati mwapezeka ndi matenda a MJD, mungafune kufunsa dokotala wanu mafunso monga:

• Ndi matenda amtundu wanji omwe ndili nawo?
• Kodi zizindikiro zanga zidzakula pakapita nthawi?
• Kodi mumalimbikitsa chithandizo chamtundu wanji?
• Kodi ana anga adzalandira MJD kuchokera kwa ine?

Ndizachilendo kukhala ndi mafunso ndi malingaliro ambiri mukalandira matenda monga matenda a Machado-Joseph (MJD). Pemphani thandizo kwa omwe ali pafupi nanu. Komanso, khalani otenga nawo mbali pa chithandizo chanu - sungani nthawi yanu yokumana ndi dokotala, tsatirani malangizo a dokotala wanu, ndikufunsa mafunso. Muthanso kulankhula ndi mlangizi wa zaumoyo wamaganizo kuti mudziwe momwe mungathanirane ndi vutoli. Musabise malingaliro anu. Lankhulani ndi anzanu, mlangizi, kapena gulu lothandizira. Kumbukirani, simuli nokha.

Uthenga Wopita Nawo Kunyumba

Matenda a Machado-Joseph (MJD) ndi matenda obadwa nawo omwe amakhudza dongosolo lathu la mitsempha. Amatha kukhudza zinthu monga kulinganiza bwino komanso kulamulira minofu. Zizindikiro zimasiyana malinga ndi mtundu wa matenda.

Ngakhale kuti palibe mankhwala a vutoli, pali mankhwala omwe angathandize kuchepetsa zizindikiro. Zinthu monga physiotherapy ndi zipangizo zothandizira zingathandize moyo kukhala wosavuta. Ngati muli ndi zizindikirozi, kapena ngati wina m'banja mwanu ali ndi vutoli, ndi bwino kupeza upangiri wa dokotala mwamsanga. Kumbukirani, ndi chidziwitso choyenera ndi chithandizo, mutha kuthana ndi vutoli.

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