Okudingeka Ukwazi Nge-Spinal Muscular Atrophy Ezinganeni

-Delile

• Izinhlobo nezimpawu ze-SMA
• Thayipha 0
• Thayipha 1
• Thayipha 2
• Izinhlobo 3 no-4
• Izimbangela ze-SMA
• Ukuxilongwa kwe-SMA
• Ukwelashwa kwe-SMA
• Imishini ekhethekile yengane
• Ukwelulekwa ngofuzo
• Ukuthatha

I-Spinal muscular atrophy (SMA) yisifo esingajwayelekile sezakhi zofuzo esidala ubuthakathaka. Ithinta ama-motor neurons entanjeni yomgogodla, okuholela ebuthakathakeni bemisipha esetshenziselwa ukunyakaza. Ezimweni eziningi ze-SMA, izimpawu nezimpawu zikhona lapho kuzalwa noma zivela eminyakeni emibili yokuqala yokuphila.

Uma ingane yakho ine-SMA, izokhawulela amandla emisipha yabo namandla abo okuhamba. Ingane yakho ingaba nobunzima bokuphefumula, ukugwinya, nokondla.

Thatha isikhashana ufunde ukuthi i-SMA ingayithinta kanjani ingane yakho, kanye nezinye izindlela zokwelashwa ezitholakalayo ukuphatha lesi simo.

Izinhlobo nezimpawu ze-SMA

I-SMA ihlukaniswa ngezinhlobo ezinhlanu, ngokuya ngeminyaka lapho kuvela khona izimpawu nobukhulu besimo. Zonke izinhlobo ze-SMA ziyaqhubeka, okusho ukuthi zivame ukuba zimbi ngokuhamba kwesikhathi.

Thayipha 0

Uhlobo lwe-0 SMA luhlobo oluyivelakancane nolunzima kakhulu.

Lapho ingane ine-0 SMA yohlobo, isimo singatholakala ngaphambi kokuba sizalwe, ngenkathi sisakhula esibelethweni.

Izingane ezizalwa zinohlobo lwe-0 SMA zinemisipha ebuthakathaka ngokweqile, kufaka phakathi imisipha yokuphefumula ebuthakathaka. Kaningi baba nenkinga yokuphefumula.

Iningi lezinsana ezizalwe ngohlobo lwe-0 SMA aliphili izinyanga ezingaphezu kwezingu-6.

Thayipha 1

Uhlobo lwe-1 SMA lwaziwa nangokuthi isifo se-Werdnig-Hoffmann noma i-SMA. Uhlobo oluvame kakhulu lwe-SMA, ngokusho kweNational Institutes of Health (NIH).

Lapho ingane inohlobo lwe-1 SMA, cishe izokhombisa izimpawu zesimo lapho izalwa noma kungakapheli izinyanga eziyisithupha izelwe.

Izingane ezine-type 1 SMA ngokuvamile azikwazi ukulawula ukunyakaza kwazo kwekhanda, ukugingqika, noma ukuhlala ngaphandle kosizo. Ingane yakho ingaba nobunzima bokuncela noma ukugwinya.

Izingane ezine-type 1 SMA nazo zivame ukuba nemisipha yokuphefumula ebuthakathaka kanye nezifuba ezimise ngokungajwayelekile. Lokhu kungadala ubunzima obukhulu bokuphefumula.

Izingane eziningi ezinalolu hlobo lwe-SMA azisindi esikhathini esedlule sobuntwana. Kodwa-ke, izindlela zokwelashwa ezintsha eziqondisiwe zingasiza ekuthuthukiseni umbono wezingane ezikulesi simo.

Thayipha 2

Thayipha i-2 SMA yaziwa nangokuthi isifo se-Dubowitz noma i-SMA ephakathi.

Uma ingane yakho ine-2 SMA yohlobo, izimpawu nezimpawu zalesi simo kungenzeka zivele phakathi kweminyaka eyi-6 nengu-18.

Izingane ezine-type 2 SMA ngokuvamile zifunda ukuhlala zodwa. Kodwa-ke, amandla abo emisipha namakhono emoto bavame ukwehla ngokuhamba kwesikhathi. Ekugcineni, bahlala bedinga ukusekelwa okwengeziwe ukuze bahlale phansi.

Izingane ezinalolu hlobo lwe-SMA ngokuvamile azikwazi ukufunda ukuma noma ukuhamba ngaphandle kokuxhaswa. Bavame ukuthuthukisa ezinye izimpawu noma izinkinga futhi, njengokuthuthumela ezandleni zabo, ukugobeka okungavamile komgogodla wabo, nobunzima bokuphefumula.

Izingane eziningi ezinohlobo lwe-2 SMA zisinda ziye kuma-20s azo noma ama-30s.

Izinhlobo 3 no-4

Kwezinye izimo, izingane zizalwa zinezinhlobo ze-SMA ezingakhiqizi izimpawu ezibonakalayo kuze kube kamuva empilweni.

Uhlobo lwe-3 SMA lwaziwa nangokuthi isifo se-Kugelberg-Welander noma i-SMA emnene. Imvamisa ivela ngemuva kwezinyanga eziyi-18.

Uhlobo lwe-4 SMA lubizwa nangokuthi i-SMA yentsha- noma yabantu abadala. Kubonakala ngemuva kobuntwana futhi kuvame ukudala izimpawu ezimnene kuphela ukuya kokulingene.

Izingane nabantu abadala abane-type 3 noma uhlobo lwe-4 SMA bangabhekana nobunzima ngokuhamba noma okunye ukunyakaza, kepha bathambekele ekubeni nethemba lokuphila elijwayelekile.

Izimbangela ze-SMA

I-SMA ibangelwa ukuguqulwa kwezinguquko ku- I-SMN1 isakhi sofuzo. Uhlobo nobukhulu besimo nakho kuthinteka yinombolo namakhophi we I-SMN2 ufuzo ingane olunalo.

Ukuthuthukisa i-SMA, ingane yakho kufanele ibe namakhophi amabili athintekile we I-SMN1 isakhi sofuzo. Ezimweni eziningi, izingane zizuza ikhophi eyodwa ethintekile yofuzo kumzali ngamunye.

I- I-SMN1 futhi I-SMN2 Izakhi zofuzo zinikeza iziyalezo emzimbeni ngokuthi ungalukhiqiza kanjani uhlobo lwamaprotheni aziwa ngokuthi yi-survival motor neuron (SMN) protein. Amaprotheni e-SMN abalulekile empilweni yama-motor neurons, uhlobo lweseli lezinzwa oludlulisa amasiginali asuka ebuchosheni nakumgogodla kuya emisipheni.

Uma ingane yakho ine-SMA, umzimba wayo awukwazi ukukhiqiza amaprotheni e-SMN kahle. Lokhu kubangela ukuthi ama-motor neurons emzimbeni wawo afe. Ngenxa yalokhu, umzimba wabo awunakuthumela kahle amasiginali emoto kusuka emgogodleni wabo kuya emisipheni yabo, okuholela ekubeni buthakathaka kwemisipha, futhi ekugcineni kubangele ukonakala kwemisipha ngenxa yokungasetshenziswa.

Ukuxilongwa kwe-SMA

Uma ingane yakho ikhombisa izimpawu noma izimpawu ze-SMA, udokotela wayo angalawula ukuhlolwa kofuzo ukuze kuhlolwe ukuguquka kwezakhi zofuzo okudala isimo. Lokhu kuzosiza udokotela wabo ukuthi afunde uma ngabe izimpawu zengane yakho zibangelwa yi-SMA noma esinye isifo.

Kwezinye izimo, ukuguqulwa kwezakhi zofuzo okubangela lesi simo kutholakala ngaphambi kokuba izimpawu ziqale. Uma wena noma umlingani wakho unomlando womndeni we-SMA, udokotela wakho angancoma ukuhlolwa kofuzo kwengane yakho, noma ngabe ingane yakho ibonakala iphilile. Uma ingane yakho ihlola ukuthi inezinguquko zofuzo, udokotela wayo angancoma ukuqala ukwelashwa ngokushesha kwe-SMA.

Ngaphezu kokuhlolwa kofuzo, udokotela wakho angayalela ukuhlolwa kwemisipha ukuhlola imisipha yengane yakho ukuthola izimpawu zesifo semisipha. Bangabuye ba-ode i-electromyogram (EMG), isivivinyo esivumela ukuthi balinganise umsebenzi kagesi wemisipha.

Ukwelashwa kwe-SMA

Okwamanje alikho ikhambi elaziwayo le-SMA. Kodwa-ke, kunezindlela zokwelashwa eziningi ezisiza ukubambezela ukuqhubeka kwesifo, ukunciphisa izimpawu, nokuphatha izinkinga ezingaba khona.

Ukuhlinzeka ngosizo oludingwa yingane yakho, udokotela wabo kufanele akusize uqoqe iqembu lezinhlobonhlobo zochwepheshe bezokunakekelwa kwezempilo. Ukuhlolwa njalo namalungu aleli qembu kubalulekile ekuphatheni isimo sengane yakho.

Njengengxenye yohlelo lwabo lokwelashwa olunconywayo, iqembu lezempilo lengane yakho lingancoma okukodwa noma okuningi kokulandelayo:

• Ukwelashwa okuhlosiwe. Ukusiza ukubambezela noma ukukhawulela ukuqhubeka kwe-SMA, udokotela wengane yakho anganikeza futhi anikeze imishanguzo yokujova i-nusinersen (Spinraza) noma i-onasemnogene abeparvovec-xioi (Zolgensma). Le mithi ihlose izimbangela zesifo.
• Ukwelashwa kokuphefumula. Ukusiza ingane yakho ukuthi iphefumule, iqembu lazo lezempilo lingahle linikeze i-physiotherapy yesifuba, i-mechanical ventilation, noma ezinye izindlela zokuphefumula.
• Ukwelashwa kokudla okunempilo. Ukuze usize ingane yakho ithole izakhamzimba namakhalori ayidingayo ukuze ikhule, udokotela wayo noma udokotela wezokudla angancoma izithasiselo zokudla okunomsoco noma ukudla nge-tube.
• Ukwelashwa kwemisipha nokuhlangana. Ukusiza ukwelula imisipha namalunga, iqembu lezempilo lengane yakho lingase linikeze izivivinyo zokwelashwa ngokomzimba. Bangaphinde bancome ukusetshenziswa kwama-splints, ama-brace, noma amanye amadivayisi ukusekela ukuma okunempilo nokuma ngokuhlanganyela.
• Imithi. Ukwelapha i-reflux ye-gastroesophageal, ukuqunjelwa, noma ezinye izinkinga ezingaba khona ze-SMA, iqembu lezempilo lengane yakho lingase linikeze umuthi owodwa noma ngaphezulu.

Njengoba ingane yakho ikhula, izidingo zazo zokwelashwa zingashintsha. Isibonelo, uma benokukhubazeka okukhulu komgogodla noma okhalweni, bangadinga ukuhlinzwa ebuntwaneni noma ebudaleni.

Uma ukuthola kunzima ngokomzwelo ukubhekana nesimo sengane yakho, yazisa udokotela wakho. Bangancoma ukwelulekwa noma ezinye izinsizakalo zokusekela.

Imishini ekhethekile yengane

Umelaphi womzimba wengane yakho, owelapha emsebenzini, noma amanye amalungu eqembu labo lezempilo angakukhuthaza ukuthi utshale imali kwimishini ekhethekile yokubasiza.

Isibonelo, bangancoma:

• amathoyizi enesisindo esincane
• imishini yokugeza ekhethekile
• imibhede eguquliwe nezihambi
• imicamelo ebunjiwe noma ezinye izinhlelo zokuhlala kanye nokusekelwa kwangemuva

Ukwelulekwa ngofuzo

Uma noma ngubani emndenini wakho noma emndenini womlingani wakho ene-SMA, udokotela wakho angakukhuthaza wena nomlingani wakho ukuthola ukwelulekwa ngezofuzo.

Uma ucabanga ngokuba nengane, umeluleki wezofuzo angakusiza wena nomlingani wakho ukuhlola nokuqonda amathuba akho okuba nengane ene-SMA.

Uma usuvele unengane ene-SMA, umeluleki wezofuzo angakusiza ukuthi uhlole futhi uqonde amathuba okuthi uzoba nenye ingane enalesi simo.

Uma unezingane eziningi futhi eyodwa yazo kutholakala ukuthi ine-SMA, kungenzeka ukuthi izingane zakubo nazo zingathwala izakhi zofuzo ezithintekile. Ingane yakini nayo ingaba nalesi sifo kepha ingakhombisi izimpawu ezibonakalayo.

Uma udokotela wakho ekholelwa ukuthi enye yezingane zakho isengozini yokuba ne-SMA, ingalawula ukuhlolwa kofuzo. Ukuxilongwa nokwelashwa kusenesikhathi kungasiza ekuthuthukiseni umbono wesikhathi eside wengane yakho.

Ukuthatha

Uma ingane yakho ine-SMA, kubalulekile ukuthola usizo eqenjini lezinhlobonhlobo zochwepheshe bezokunakekelwa kwezempilo. Bangakusiza uqonde isimo sengane yakho nezinketho zokwelashwa.

Ngokuya ngesimo sengane yakho, iqembu lazo lezempilo lingancoma ukwelashwa ngomuthi ohlosiwe. Bangancoma nezinye izindlela zokwelashwa noma ukuguqulwa kwendlela yokuphila ukusiza ukuphatha izimpawu nezinkinga ezingaba khona ze-SMA.

Uma ukuthola kunzima ukubhekana nezinselelo zokunakekela ingane ene-SMA, yazisa udokotela wakho. Bangakudlulisela kumeluleki, iqembu lokusekela, noma eminye imithombo yokusekela. Ukuthola ukusekelwa okungokomzwelo okudingayo kungakusiza ukwazi ukunakekela kangcono umndeni wakho.