Kodi Spinal Muscular Atrophy, zizindikilo zazikulu ndi chithandizo

Zamkati

• Zizindikiro zazikulu
• Mtundu I - woopsa kapena matenda a Werdnig-Hoffmann
• Mtundu Wachiwiri - wapakatikati kapena wosatha
• Mtundu wachitatu - wofatsa, wachinyamata kapena matenda a Kugelberg-Welander
• Mtundu wachinayi - wamkulu
• Momwe mungatsimikizire matendawa
• Momwe mankhwalawa amachitikira
• 1. Thandizo lakuthupi
• 2. Kugwiritsa ntchito zida ndi chithandizo pantchito
• 3. Zakudya zokwanira
• Njira zina zamankhwala
• Zomwe zimayambitsa kufooka kwa minofu

Spinal muscular atrophy ndimatenda achilendo omwe amakhudza ma cell amitsempha mumtsempha wamtsempha, omwe amachititsa kupatsira magetsi kuchokera kuubongo kupita ku minofu, zomwe zimapangitsa kuti munthu azivutika kapena sangathe kusuntha minofu modzipereka.

Matendawa ndi oopsa ndipo amachititsa kufooka ndi kufooka kwapang'onopang'ono kwa minofu. Poyamba zizindikirazo zimatha kukhudza miyendo yokha, koma kenako matenda amayamba kukhudza mikono, ndipo pamapeto pake minofu ya thunthu.

Ngakhale kulibe mankhwala opatsirana a msana, ndizotheka kuchita chithandizo kuti muchepetse kukula kwa matendawa ndikukhalitsa moyo wabwino, kulola kuti munthu akhale wodziyimira pawokha kwanthawi yayitali.

Zizindikiro zazikulu

Zizindikiro za kupindika kwa msana kwamtundu zimasiyana kutengera mtundu wamatenda:

Mtundu I - woopsa kapena matenda a Werdnig-Hoffmann

Ndi nthenda yayikulu yamatenda yomwe imatha kudziwika pakati pa miyezi 0 ndi 6 ya moyo, chifukwa imakhudza kukula kwamwana, zomwe zimapangitsa kuti azivutika kugwira mutu kapena kukhala wopanda thandizo. Kuphatikiza apo, kupuma movutikira komanso kumeza kumakhalanso kofala. Asanakwanitse chaka chimodzi, mwana sangathe kumeza ndikudyetsa komanso kupuma movutikira, zomwe zimafunikira kuchipatala.

Ana omwe amapezeka kuti ali ndi vuto la msana wam'mimba amakhala ndi zaka zochepa chabe, ndipo nthawi zina samaliza chaka chachiwiri, koma chithandizo chazotsogola chawonjezera chiyembekezo cha moyo.

Mtundu Wachiwiri - wapakatikati kapena wosatha

Kawirikawiri zizindikiro zoyamba zimawoneka pakati pa miyezi 6 ndi 18 ndipo zimaphatikizapo kukhala pansi, kuyimirira kapena kuyenda nokha. Ana ena amatha kuyimilira ndi chithandizo, koma amalephera kuyenda, atha kukhala ndi vuto lolemera komanso amavutika kutsokomola, ali ndi chiopsezo chowonjezeka cha matenda opuma. Kuphatikiza apo, ali ndi kunjenjemera kocheperako ndipo atha kukhala ndi scoliosis.

Kutalika kwa moyo kumasiyana pakati pa 10 ndi 40 wazaka zakubadwa, kutengera matenda ena omwe angakhalepo, ndi mtundu wa mankhwala omwe amachitidwa.

Mtundu wachitatu - wofatsa, wachinyamata kapena matenda a Kugelberg-Welander

Mtundu uwu ndi wopepuka ndipo umayamba pakati paubwana ndi unyamata ndipo, ngakhale sizimayambitsa zovuta kuyenda kapena kuyimirira, zimalepheretsa zochitika zovuta monga kukwera kapena kutsika masitepe. Vutoli limakulirakulirabe, mpaka mpofunika kugwiritsa ntchito njinga ya olumala. Imaphatikizidwanso monga:

• lembani 3a: matendawa asanakwanitse zaka 3, amatha kuyenda mpaka zaka 20;
• lembani 3b: mawonekedwe atatha zaka zitatu, ndani angathe kupitiliza kuyenda kwa moyo wonse.

Popita nthawi, munthuyo amatha kukhala ndi scoliosis ndipo chiyembekezo chake chokhala ndi moyo sichikhala chokhazikika, kukhala pafupi ndi zachilendo.

Mtundu wachinayi - wamkulu

Palibe mgwirizano wazomwe zimapezeka, ofufuza ena akuti amapezeka zaka pafupifupi 10, pomwe ena amalankhula azaka pafupifupi 30. Poterepa, kutayika kwamagalimoto sikuvuta kwambiri, ngakhale kumeza kapena kupuma sikukhudzidwa kwambiri. Chifukwa chake, zizindikiro zowopsa monga kunjenjemera kwa manja ndi miyendo zilipo, ndipo chiyembekezo cha moyo ndichabwino.

Momwe mungatsimikizire matendawa

Kuzindikira sikophweka ndipo ndi kuyamba kwa zizindikilo dokotala kapena dokotala wa ana atha kukayikira matenda angapo omwe amakhudza magalimoto, kuphatikiza pamimba yaminyewa yam'mimba. Pachifukwa ichi, adotolo amatha kuyitanitsa mayesero angapo kuti athetse zolingalira zina, kuphatikizapo electromyography, minofu biopsy ndi kusanthula kwama molekyulu.

Momwe mankhwalawa amachitikira

Chithandizo cha kupindika kwa msana kumachitika pofuna kuthana ndi zizolowezi ndikusintha moyo wa munthu, popeza sizingatheke kuchiritsa kusintha kwamatenda komwe kumayambitsa matendawa.

Kuti apange chithandizo chabwino kwambiri, gulu la akatswiri azaumoyo, monga akatswiri a mafupa, ma physiotherapists, manesi, akatswiri azakudya ndi othandizira pantchito, mwachitsanzo, atha kukhala ofunikira, kutengera zovuta ndi zolephera za munthu aliyense.

Njira zazikulu zamankhwala zomwe amagwiritsidwa ntchito ndi izi:

1. Thandizo lakuthupi

Physiotherapy ndiyofunikira kwambiri pamilandu yonse ya kuperewera kwa minofu, chifukwa imalola kuti magazi aziyenda bwino, kupewa kuuma molumikizana, kuchepa kwa minofu ndikuchepetsa kusinthasintha.

Kukweza zolemera, kuchita masewera olimbitsa thupi ndi zingwe zama raba kapena kuchita zolimbitsa thupi ndi zina mwa zitsanzo za zomwe zingachitike ngati minyewa ya minyewa ili m'mimba. Koma izi zimayenera kutsogozedwa ndi physiotherapist kuchipatala cha physiotherapy, mwachitsanzo, chifukwa zimasiyana malinga ndi kuchepa kwa munthu aliyense.

Kuphatikiza apo, zida zamagetsi zamagetsi zitha kugwiritsidwanso ntchito kulimbikitsa kupindika kwa minofu, monga momwe ziliri ndi mphamvu yaku Russia, yomwe ndi njira yabwino kwambiri yothandizira kuchipatala.

2. Kugwiritsa ntchito zida ndi chithandizo pantchito

Thandizo lantchito ndi njira yabwino kwambiri yolimbikitsira moyo pakavuta kusuntha kapena kuchita zinthu zosavuta tsiku lililonse, monga kudya kapena kuyenda, mwachitsanzo.

Izi ndichifukwa choti, pantchito zantchito, katswiri amathandizira munthuyo kugwiritsa ntchito zida zothandizira, monga zodulira zapadera kapena njinga ya olumala, yomwe imawalola kugwira ntchito zomwezo, ngakhale matendawa atakhala ochepa.

3. Zakudya zokwanira

Zakudya zokwanira ndizofunikira kwambiri kuti zitsimikizire kukula kwa iwo omwe ali ndi vuto la kupindika kwa minofu, makamaka kwa ana. Komabe, ambiri amavutika kutafuna kapena kumeza, mwachitsanzo, ndipo panthawiyi, wopatsa thanzi amatha kuwonetsa zakudya zabwino komanso zowonjezera kuti akwaniritse zosowa zonse za thupi.

Kuphatikiza apo, nthawi zambiri, kungakhale kofunikira kugwiritsa ntchito chubu chodyetsera kapena chubu chaching'ono cholumikizira m'mimba pakhungu la m'mimba, kukulolani kudyetsa popanda kutafuna kapena kumeza. Onani momwe mungagwiritsire ntchito ndikusamalira kafukufuku wodyetsa.

Njira zina zamankhwala

Kuphatikiza pa njira zamankhwala zam'mbuyomu, mitundu ina ya chithandizo ingakhale yofunikira, malingana ndi zizindikiritso za munthu aliyense. Mwachitsanzo, nthawi yomwe minofu yopuma imakhudzidwa, kungakhale kofunikira kugwiritsa ntchito zida zopumira zomwe zimakakamiza mpweya m'mapapu, m'malo mwa minofu.

Kwa ana omwe ali ndi vuto la minofu pafupi ndi msana, pangafunike kuchitidwa opaleshoni kuti akonze scoliosis, chifukwa kusalinganika kwa mphamvu yaminyewa kumatha kubweretsa msana kukula molakwika.

Njira yatsopano yothandizira ndi kugwiritsa ntchito mankhwala a Spinraza, omwe avomerezedwa kale ku United States ndipo akulonjeza kuti achepetsa zizindikilo za atrophy zomwe zimayambitsidwa ndikusintha kwa jini la SMN-1. Mvetsetsani zomwe Spinraza ndi momwe zimagwirira ntchito.

Chithandizo cha kupweteka kwa msana kwam'mimba nthawi zambiri chimachitika pogwiritsa ntchito mankhwala, chakudya chapadera komanso chithandizo chamankhwala.

Zomwe zimayambitsa kufooka kwa minofu

Spinal muscular atrophy imayamba chifukwa cha kusintha kwa majini pa chromosome 5 komwe kumayambitsa kusowa kwa protein, yotchedwa Kupulumuka Njinga Neuron-1 (SMN1), yofunikira pakugwira bwino ntchito kwa minofu. Pali zochitika zachilendo pomwe kusintha kwa majini kumachitika m'majini ena omwe amakhudzidwanso ndi kuyenda kwa minofu.