Kodi munthu amene ali pafupi nanu ali ndi matenda a Coffin-Lowry Syndrome? Tiyeni tikambirane za vutoli!

Kodi mudamvapo za matenda otchedwa Coffin-Lowry Syndrome (CLS)? Dzinali likhoza kukhala latsopano kwa inu. Ndi matenda osowa, obadwa nawo omwe si ofala kwa anthu ambiri. Amatha kukhudza ziwalo zosiyanasiyana za thupi m'njira zosiyanasiyana. Tiyeni tikambirane za matendawa m'njira yosavuta yomwe mungamvetse.

Kodi vutoli ndi lofala bwanji?

Ndipotu, `(Coffin-Lowry Syndrome)` iyi ndi yosowa kwambiri. Kunena zoona, asayansi amati imapezeka mwa munthu m'modzi mwa anthu 50,000 mpaka 100,000. Izi zikutanthauza kuti ndi vuto losowa kwambiri. Chinthu china n'chakuti nthawi zambiri, ndiko kuti, pakati pa 70% ndi 80%, palibe m'banjamo amene angakhalepo ndi vutoli kale. Izi zikutanthauza kuti milandu yochitika nthawi ndi nthawi ndiyo yofala kwambiri.

Ndani amene ali ndi mwayi waukulu wopeza vutoli?

Matendawa `(CLS)` angakhudze anyamata ndi atsikana. Komabe, zizindikiro zake nthawi zambiri zimakhala zoopsa kwambiri mwa anyamata. Makamaka, anyamata omwe ali ndi `(CLS)` nthawi zambiri amakhala ndi vuto lalikulu la maganizo. Komabe, vutoli ndi losiyana pang'ono kwa atsikana. Atsikana ena akhoza kukhala ndi nzeru zabwinobwino, pomwe ena akhoza kukhala ndi vuto laling'ono, laling'ono, kapena lalikulu la maganizo. Zimasiyana malinga ndi munthu wina.

N’chifukwa chiyani izi zikuchitika? Kodi zifukwa zake ndi ziti?

Nthawi zambiri, matenda a Coffin-Lowry amayamba chifukwa cha kusintha kwa majini otchedwa `RPS6KA3` m'thupi lathu. Tsopano mwina mukudabwa kuti jini ndi chiyani, sichoncho? Mwachidule, majini ali ngati malangizo ang'onoang'ono m'thupi lathu. Zinthu monga mtundu wa tsitsi lathu, kutalika, ndi mtundu wa khungu zimatsimikiziridwa ndi majini awa. Chifukwa chake, jini iyi ya `RPS6KA3` imapanga puloteni yapadera yomwe imathandiza maselo athu "kulankhulana", ndiko kuti, kusinthana chidziwitso. Pakakhala cholakwika, ndiko kuti, kusintha, mu jini iyi, kupanga puloteniyo m'thupi kumachepa. Komabe, asayansi sakudziwa bwino momwe kuchepa kwa puloteniyi kumagwirizanirana ndi matenda a Coffin-Lowry.

Pali nthawi zina pamene anthu ena ali ndi vuto la `(CLS)` koma palibe kusintha komwe kungapezeke mu jini yawo ya `RPS6KA3`. Pazochitika zotere, chifukwa cha vutoli chikadali chinsinsi.

Kodi zizindikiro za izi ndi ziti?

Zizindikiro za matenda a Coffin-Lowry zimatha kusiyana kwambiri malinga ndi munthu. Monga tanenera kale, zimakhala zovuta kwambiri mwa anyamata. Zizindikirozi zimakhudza ziwalo zosiyanasiyana za thupi ndipo zimaonekera bwino akamakula.

Zinthu zapadera zomwe zimawonekera pankhope

Pali makhalidwe enaake omwe angaonekere pa nkhope ya anthu omwe ali ndi vutoli. Izi ndi izi:

• Maso ali kutali pang'ono kuposa masiku onse, ndipo ngodya za maso zimaoneka ngati zikutsika pang'ono pansi.
• Makutu ndi akuluakulu kuposa masiku onse ndipo amakhala otsika.
• Chipumi, nsidze, ndi chibwano zimawonekera bwino.
• Mphuno yayang'ana mmwamba ndipo mphuno zake ndi zazikulu.
• Pakamwa pake ndi patali ndipo milomo yake ndi yokhuthala.

Zinthu zapadera zomwe zingawonekere m'manja

Kusintha kwina kungaonekenso m'manja:

• Zala zokhala ndi zingwe ziwiri.
• Zala zake zimakhala zokhuthala pansi ndipo zimakhala zoonda ku nsonga (`zala zopyapyala`).
• Manja amaoneka aakulu komanso ofewa.

Mavuto omwe angawonekere m'mafupa

Pakhoza kukhalanso mavuto ena ndi mafupa a thupi:

• Munthu wogontha msana, kutanthauza kuti wagona pansi (`kyphosis` kapena `scoliosis`) amaoneka.
• Mavuto a mano; mwachitsanzo, kusintha kwa mawonekedwe a pakamwa, kusowa kwa mano, ndi zina zotero.
• Fupa lapakati la chifuwa limatuluka patsogolo kapena kulowa mkati.
• Kufupikitsa mafupa atali a miyendo (monga femur, tibia, ndi humerus).
• Kufupika kwa msinkhu (kufupika kwa kutalika).
• Mutu wochepera kukula kwabwinobwino (Microcephaly).

Zizindikiro zina zodziwika bwino

Kuwonjezera pa izi, zizindikiro zina zingawonekere:

• Kuchedwa kukula ndi kulephera kwa nzeru.
• Kuukira kwa madontho: Izi ndi zapadera pang'ono. Tangoganizirani, poyankha phokoso ladzidzidzi, chochitika chadzidzidzi, kapena malingaliro amphamvu, mwadzidzidzi agwa pansi, akuoneka kuti sakudziwa kalikonse. Chinthu chachilendo n'chakuti, amakhala ozindikira panthawiyo, koma sangathe kulamulira thupi lawo. Izi zimatchedwa `(Stimulus-induced drop episodes)`.
• Kulephera kumva.
• Khungu ndi lotayirira komanso lotambasuka.
• Mavuto a mtima, chiwindi, kapena impso.
• Chala chachikulu cha phazi chachifupi.
• Kuvuta kulankhula.
• Kufooka kwa minofu ndi kutayika kwa mphamvu.

Kodi mumazindikira bwanji vutoli?

Pali njira zingapo zomwe dokotala angadziwire matenda a Coffin-Lowry:

• Kuyang'anira zizindikiro: Dokotala amamuyang'ana mwanayo mosamala kuti aone ngati ali ndi zizindikiro zomwe zatchulidwa pamwambapa.
• Kuyezetsa majini: Kuyezetsa magazi kapena kupopera masaya kungatsimikizire ngati pali kusintha kwa majini a RPS6KA3.
• X-ray: X-ray ingathandize kuona momwe msana, zala, ndi mafupa aatali zimakhudzira.
• Kujambula ubongo (`Maphunziro a Neuroimaging`): Ngakhale kuti izi zimagwiritsidwa ntchito pophunzira zambiri za ubongo, zokha sizingathe kuzindikira matendawa motsimikiza.

Kodi pali mankhwala athunthu a izi? Kodi mankhwala ake ndi otani?

Mwatsoka, palibe mankhwala kapena chithandizo chapadera cha matenda a Coffin-Lowry. Cholinga chachikulu ndikuthana ndi vutoli, kuchepetsa zizindikiro, ndikuthandiza anthu kukhala ndi moyo wabwino komanso wosangalala momwe angathere.

Anthu omwe ali ndi vutoli angafunike kuwonana ndi akatswiri angapo pafupipafupi. Mwachitsanzo:

• Akatswiri a zakumva: Awa ndi omwe amasamalira mavuto a kumva.
• Madokotala a mtima: Awa ndi anthu omwe amazindikira ndi kuchiza matenda a mtima.
• Akatswiri a za ubongo: Awa ndi madokotala omwe amachiza mavuto okhudzana ndi ubongo ndi dongosolo la mitsempha.
• Madokotala a maso: Kwa mavuto okhudzana ndi masomphenya.
• Madokotala a mafupa: Awa ndi anthu omwe amachiritsa mavuto a mafupa, mafupa, ndi msana .
• Akatswiri a mano: Zokhudza mano ndi thanzi la pakamwa.
• Akatswiri a zamaganizo: Thandizani anthu kuchita ntchito za tsiku ndi tsiku, monga kudya ndi kulemba, bwino.
• Akatswiri a zamaganizo: Amathandiza kulimbitsa mphamvu ndi kuyenda kwa thupi.
• Akatswiri olankhula: Amathandiza ndi mavuto olankhula komanso kuchedwa.

Pa nthawi ya kugwa kwa mafupa yomwe yatchulidwa kale, dokotala angapereke mankhwala oletsa kupweteka kwa mutu kapena mankhwala oletsa nkhawa. Kufooka kwakukulu kwa mafupa kungafunike opaleshoni.

Dokotala wanu angakulimbikitseninso kuti mupeze upangiri wa majini.

Kodi ndingaletse mwana wanga kuti izi zisamuchitikire?

Asayansi sakudziwabe chomwe chimayambitsa kusintha kwa majini kumeneku, kapena chomwe chimayambitsa zomwe zimatchedwa 'zochitika zosakhazikika'. Chifukwa chake, pakadali pano palibe njira yopewera matenda a Coffin-Lowry. Mayi amene ali ndi vutoli ali ndi mwayi wa 50% kuti mwana wake adzalandira matendawa. Kuyezetsa majini asanabadwe kumatha kuzindikira kukhalapo kwa kusintha kwa majini kumeneku panthawi ya mimba. Dokotala wanu angakulangizenso kuti achibale anu apamtima alandire upangiri wa majini.

Kodi chingachitike n’chiyani ngati ine kapena mwana wanga ali ndi vutoli? Kodi tsogolo lidzakhala lotani?

Tsopano mwina mukuganiza kuti, "O, ngati mwana wanga ali ndi vutoli, tsogolo lake lidzakhala lotani ?" Kwenikweni, si aliyense amene ali ndi Coffin-Lowry Syndrome amene ali ofanana. Ena sakhudzidwa kwambiri, ena amakhudzidwa kwambiri. Chifukwa chake, tsogolo la munthu aliyense limasiyana. Zimatengera ziwalo za thupi zomwe zakhudzidwa komanso momwe zotsatira zake zilili zoopsa.

Chofunika kwambiri n’chakuti ngakhale mwana amene ali ndi vutoli akhoza kupambana pa moyo wake wonse ngati atalandira chithandizo, chithandizo, ndi chikondi chofunikira.

Kodi matenda a Coffin-Lowry angakhale oopsa kwa moyo?

Matendawa amatha kuchepetsa nthawi yoyembekezera kukhala ndi moyo. Kafukufuku wina wasonyeza kuti pafupifupi 13.5% ya anyamata ndi 4.5% ya atsikana omwe ali ndi vutoli amafa, pafupifupi, ali ndi zaka 20.5. Komabe, izi sizofala kwa aliyense.

Ndi chiyani chinanso chomwe ndingafunse dokotala wanga pankhaniyi?

Ngati inu kapena mwana wanu ali ndi CLS, mungafune kufunsa dokotala wanu mafunso monga:

• "Ndi ziwalo ziti za thupi langa/la mwana wanga zomwe zakhudzidwa ndi vutoli?"
• "Kodi pali zotsatirapo zilizonse zoopsa zomwe zingawononge moyo chifukwa cha zotsatirazi?"
• "Ndi akatswiri amtundu wanji omwe tiyenera kuwaona? Kodi tiyenera kuwaona kangati?"
• "Kodi mumalimbikitsa mankhwala kapena opaleshoni pa izi?"
• "Kodi pali magulu othandizira omwe angatithandize kukhala ndi vutoli?"
• "Mukuganiza kuti zingakhale bwino kupeza upangiri wa majini pa vuto lathu?"
• "Kodi ndi lingaliro labwino kukayezetsa majini a banja lathu lonse?"

Ndiye, ndi zinthu ziti zofunika kwambiri zomwe tiyenera kukumbukira kuchokera pa zonsezi? (Uthenga Wopita Nawo Kunyumba)

Matenda a Coffin-Lowry (CLS) ndi matenda obadwa nawo osowa, omwe amakhudza ziwalo zambiri za thupi. Zizindikiro zimasiyana malinga ndi munthu, koma mawonekedwe a nkhope, zilema za mafupa, ndi zilema zamaganizo ndizofala.

Ngakhale kuti palibe mankhwala enieni a izi, mutha kupempha thandizo kwa akatswiri osiyanasiyana komanso akatswiri azachipatala kuti muthane ndi zizindikiro zanu ndikukhala moyo wanu momwe mungathere.

Ngati mukukayikira kapena mwapezeka ndi vutoli, chonde funsani upangiri kwa dokotala. Adzakupatsani malangizo ndi chithandizo chomwe mukufuna. Kumbukirani, simuli nokha. Pali zinthu ndi magulu othandizira omwe angathandize mabanja omwe akukumana ndi vutoli.

Matenda a Coffin-Lowry, CLS, matenda obadwa nawo, zilema zobadwa nazo, kulumala kwa nzeru, kufooka kwa mafupa, kuukira kwa madontho