Yini i-Spinal Muscular Atrophy, izimpawu eziyinhloko nokwelashwa

-Delile

• Izimpawu eziyinhloko
• Thayipha I - isifo esibi noma seWerdnig-Hoffmann
• Uhlobo II - oluphakathi noma olungapheli
• Uhlobo lwe-III - olumnene, olusha noma olwe-Kugelberg-Welander
• Uhlobo IV - umuntu omdala
• Ungakuqinisekisa kanjani ukuxilongwa
• Yelashwa kanjani
• 1. Ukwelashwa ngokomzimba
• 2. Ukusetshenziswa kwemishini nokwelashwa emsebenzini
• 3. Ukudla okwanele
• Ezinye izindlela zokwelashwa
• Yini ebangela i-muscle atrophy

Umgogodla wemisipha i-atrophy yisifo esingajwayelekile sezakhi zofuzo esithinta amangqamuzana ezinzwa emgogodleni, onesibopho sokudlulisa amandla kagesi asuka ebuchosheni aye emisipheni, okwenza lowo muntu abe nobunzima noma angakwazi ukuhambisa imisipha ngokuzithandela.

Lesi sifo sibucayi futhi sidala i-atrophy nobuthakathaka bemisipha obuqhubekayo. Ekuqaleni izimpawu zingathinta imilenze kuphela, kodwa-ke lesi sifo siqala ukuthinta izingalo, futhi ekugcineni imisipha yomboko.

Yize lungekho ikhambi lomgogodla wemisipha yomagazini, kungenzeka ukwelashwa ukubambezela ukukhula kwesifo nokwenza ngcono impilo, okuvumela umuntu ukuthi akwazi ukuzimela isikhathi eside.

Izimpawu eziyinhloko

Izimpawu ze-spinal muscular atrophy ziyahlukahluka ngohlobo lwesifo:

Thayipha I - isifo esibi noma seWerdnig-Hoffmann

Kuyisifo esibi kakhulu esingahlonzwa phakathi kwezinyanga ezi-0 nezingu-6 zokuphila, ngoba sithinta ukukhula okujwayelekile kwengane, okuholela ekubeni nobunzima bokubamba ikhanda noma ukuhlala ngaphandle kosizo. Ngaphezu kwalokho, ubunzima bokuphefumula nokugwinya nakho kujwayelekile. Ngaphambi konyaka owodwa ubudala, ingane ayikwazi ukugwinya futhi yondle futhi iphefumule ubunzima obudinga ukwelashwa.

Izingane ezitholwe zine-spinal muscular atrophy enzima zineminyaka embalwa kuphela ubudala, futhi kwesinye isikhathi aziwuqedi unyaka wesibili, kepha ukwelashwa okuthuthukile kukhulise isikhathi sokuphila.

Uhlobo II - oluphakathi noma olungapheli

Imvamisa izimpawu zokuqala zivela phakathi kwezinyanga eziyisithupha kuya kwezingu-18 futhi zibandakanya ubunzima bokuhlala, ukuma noma ukuhamba wedwa. Izingane ezithile ziyakwazi ukuma nokuxhaswa, kepha azikwazi ukuhamba, zingaba nobunzima bokuthola isisindo futhi zibe nobunzima bokukhwehlela, ngengozi eyengeziwe yezifo zokuphefumula. Ngaphezu kwalokho, banokuthuthumela okuncane okuhle futhi bangaba ne-scoliosis.

Isikhathi sokuphila esiphakathi kweminyaka eyi-10 nengama-40 ubudala, kuya ngezinye izifo ezingaba khona, kanye nohlobo lokwelashwa okwenziwayo.

Uhlobo lwe-III - olumnene, olusha noma olwe-Kugelberg-Welander

Lolu hlobo lulula futhi lukhula phakathi kobuntwana nobusha futhi, yize lungabangeli ubunzima bokuhamba noma ukuma, luvimba imisebenzi eyinkimbinkimbi njengokukhuphuka noma ukwehla izitebhisi. Lobu bunzima bungaba bukhulu kakhulu, kuze kudingeke ukuthi usebenzise isihlalo esinamasondo. Iphinde yahlukaniswa njenge:

• thayipha i-3a: ukuqala kwesifo ngaphambi kweminyaka engu-3, ​​bayakwazi ukuhamba baze babe neminyaka engama-20;
• thayipha 3b: ukuvela ngemuva kweminyaka emithathu ubudala, ngubani ongaqhubeka nokuhamba impilo yonke.

Ngokuhamba kwesikhathi, umuntu angaba ne-scoliosis futhi isikhathi sakhe sokuphila asinqunyelwe, siphila eduze kokujwayelekile.

Uhlobo IV - umuntu omdala

Akukho ukuvumelana mayelana nokuthi kutholakala nini, abanye abacwaningi bathi livela eminyakeni yobudala eyi-10, kanti abanye bakhuluma cishe baneminyaka engama-30. Kulokhu, ukulahleka kwemoto akukubi kakhulu, noma ukugwinya noma uhlelo lokuphefumula aluthinteki kakhulu. Ngakho-ke, izimpawu ezinamandla njengokuthuthumela kwezingalo nemilenze zikhona, futhi isikhathi sokuphila sivamile.

Ungakuqinisekisa kanjani ukuxilongwa

Ukuxilongwa akulula futhi ngokuqala kwezimpawu udokotela noma udokotela wezingane angase asole uchungechunge lwezifo ezithinta uhlelo lwezimoto, ngaphezu kwe-spinal muscular atrophy. Ngalesi sizathu, udokotela anga-oda izivivinyo eziningana ukukhipha okunye ukucabanga, kufaka phakathi i-electromyography, imisipha biopsy kanye nokuhlaziywa kwamangqamuzana.

Yelashwa kanjani

Ukwelashwa kwe-spinal musr atrophy kwenziwa ukulawula izimpawu nokwenza ngcono izinga lempilo lomuntu, njengoba kungakenzeki ukwelapha ukuguqulwa kofuzo okubanga lesi sifo.

Ukwenza ukwelashwa okungcono kakhulu, iqembu lochwepheshe bezempilo abaningana, njengabadokotela bamathambo, abasebenza ngokuzivocavoca umzimba, abahlengikazi, izazi zokudla kanye nabelaphi emsebenzini, ngokwesibonelo, kungadingeka, ngokuya ngobunzima nokulinganiselwa komuntu ngamunye.

Izinhlobo zokwelashwa ezisetshenzisiwe zifaka:

1. Ukwelashwa ngokomzimba

I-Physiotherapy ibaluleke kakhulu kuzo zonke izimo ze-muscle atrophy, ngoba ivumela ukugcina ukujikeleza kwegazi okwanele, ukugwema ukuqina okuhlangene, ukunciphisa ukulahleka kwemisipha nokuthuthukisa ukuguquguquka.

Ukuphakamisa izinsimbi, ukuzivocavoca ngamabhande enjoloba noma ukuzivocavoca ngokuvivinya umzimba ngezinye zezibonelo zalokho okungenziwa uma kwenzeka i-muscular atrophy. Kepha lezi zivivinyo kufanele ziqondiswe yi-physiotherapist emtholampilo we-physiotherapy, ngokwesibonelo, njengoba zihluka ngokuya ngomkhawulo womuntu ngamunye.

Ngaphezu kwalokho, amadivayisi we-electrostimulation angasetshenziswa futhi ukukhuthaza ukusikwa kwemisipha, njengoba kunjalo nangamanje waseRussia, okuyindlela enhle yokugcwalisa ukwelashwa.

2. Ukusetshenziswa kwemishini nokwelashwa emsebenzini

Ukwelashwa emsebenzini kuyindlela enhle yokwandisa ikhwalithi yempilo ezimweni lapho kunenkinga yokuhamba noma ukwenza imisebenzi elula yansuku zonke, njengokudla noma ukuhamba, ngokwesibonelo.

Lokhu kungenxa yokuthi, ngezikhathi zokwelashwa emsebenzini, uchwepheshe usiza umuntu ukuthi asebenzise imishini ethile yokusiza, njengokusika okhethekile noma isihlalo esinamasondo, esivumela ukuthi benze imisebenzi efanayo, noma ngabe isifo sinqunyelwe.

3. Ukudla okwanele

Ukudla okwanele kubaluleke kakhulu ukuqinisekisa ukukhula kwalabo abahlushwa i-muscular atrophy, ikakhulukazi endabeni yezingane. Kodwa-ke, abaningi banenkinga yokuhlafuna noma ukugwinya, ngokwesibonelo, futhi kulezi zimo, isazi sokudla okunempilo singakhombisa ukudla nezithako ezingcono kakhulu ukuhlangabezana nazo zonke izidingo zomzimba.

Ngaphezu kwalokho, ezimweni eziningi, kungadingeka ngisho nokusebenzisa ithubhu yokudla noma ithubhu elincane elixhumanisa isisu nesikhumba sesisu, likuvumela ukuthi wondle ngaphandle kokuhlafuna noma ukugwinya. Bona ukuthi ungayisebenzisa kanjani futhi uyinakekele kanjani iphenyo yokudla.

Ezinye izindlela zokwelashwa

Ngaphezu kwamasu wokwelashwa angaphambilini, ezinye izinhlobo zokwelashwa nazo zingadingeka, ngokuya ngezimpawu nemikhawulo yomuntu ngamunye. Isibonelo, ezimweni lapho kuthinteka khona imisipha yokuphefumula, kungadingeka ukusebenzisa izinto zokuphefumula eziphoqa umoya emaphashini, esikhundleni semisipha.

Ezinganeni ezinezinkinga zemisipha eduze komgogodla, kungadingeka ukuthi zihlinzwe ukulungisa i-scoliosis, ngoba ukungalingani emandleni emisipha kungaholela ekutheni umgogodla ukhule ngendlela engafanele.

Enye indlela yokwelashwa entsha ukusetshenziswa komuthi iSpinraza, osuvele uvunyelwe e-United States futhi wethembisa ukunciphisa izimpawu ze-atrophy ezibangelwa izinguquko kuhlobo lwe-SMN-1. Qonda ukuthi yini iSpinraza nokuthi isebenza kanjani.

Ukwelashwa kwe-spinal musr atrophy kuvame ukwenziwa ngokusetshenziswa kwemithi, ukudla okukhethekile nokwelashwa komzimba.

Yini ebangela i-muscle atrophy

Umgogodla we-muscular atrophy ubangelwa ukuguqulwa kofuzo ku-chromosome 5 okubangela ukungabikho kweprotheni, eyaziwa njenge Ukusinda Motor Neuron-1 (SMN1), kubalulekile ekusebenzeni kahle kwemisipha. Kukhona amacala angavamile lapho ukuguquka kwezakhi zofuzo kwenzeka kwezinye izakhi zofuzo ezihlobene nokuhamba ngokuzithandela kwemisipha.