Into ekufuneka uyazi malunga ne-Spinal Muscular Atrophy kwiintsana

Umxholo

• Iindidi kunye neempawu zeSMA
• Chwetheza 0
• Uhlobo lwe-1
• Uhlobo lwe-2
• Iindidi 3 no 4
• Unobangela weSMA
• Ukuchongwa kwe-SMA
• Unyango lwe-SMA
• Izixhobo ezizodwa zomntwana
• Ingcebiso ngemfuzo
• Ukuthatha

Spinal muscular atrophy (SMA) sisifo esingaqhelekanga semfuza esibangela ubuthathaka. Ichaphazela ii-motor neurons kwintambo yomqolo, ekhokelela ekubeni buthathaka kwezihlunu ezisetyenziselwa ukuhamba. Kwiimeko ezininzi ze-SMA, iimpawu kunye neempawu zibakhona xa kuzalwa okanye zivela kwiminyaka emibini yokuqala yobomi.

Ukuba umntwana wakho une-SMA, iya kunciphisa amandla emisipha kunye nokukwazi ukuhamba. Usana lwakho lusenokuba nobunzima bokuphefumla, ukuginya kunye nokondla.

Thatha umzuzwana ufunde ngendlela i-SMA enokumchaphazela ngayo umntwana wakho, kunye nezinye iindlela zokhetho ezikhoyo zokulawula le meko.

Iindidi kunye neempawu zeSMA

I-SMA ihlelwa kwiindidi ezintlanu, ngokusekwe kubudala xa iimpawu zibonakala kunye nobukhali bemeko. Zonke iintlobo ze-SMA ziqhubela phambili, oko kuthetha ukuba zihlala zisiba mandundu ngokuhamba kwexesha.

Chwetheza 0

Uhlobo lwe-0 SMA lolona hlobo lunqabileyo nolona luqatha.

Xa umntwana ene-0 SMA yohlobo, imeko inokufunyanwa ngaphambi kokuba azalwe, ngelixa esakhula esibelekweni.

Iintsana ezizalwe zine-0 SMA zinemisipha ebuthathaka kakhulu, kubandakanya izihlunu zokuphefumla ezibuthathaka. Bahlala benengxaki yokuphefumla.

Uninzi lweentsana ezizalwe zine-0 SMA aziphili ngaphezulu kweenyanga ezi-6.

Uhlobo lwe-1

Uhlobo lwe-1 SMA lukwabizwa ngokuba sisifo se-Werdnig-Hoffmann okanye ukuqala kwe-SMA. Luhlobo oluqhelekileyo lwe-SMA, ngokwe-National Institutes of Health (NIH).

Xa umntwana enoluhlobo lwe-1 SMA, uya kuthi abonakalise iimpawu kunye neempawu zemeko yokuzalwa okanye kwiinyanga ezi-6 zokuzalwa.

Abantwana abanohlobo 1 lwe-SMA ngokwesiqhelo abanakho ukulawula iintshukumo zentloko, ukuziqengqa, okanye ukuhlala ngaphandle koncedo. Umntwana wakho unokuba nobunzima bokuncanca okanye ukugwinya.

Abantwana abanoluhlobo lwe-1 SMA nabo bathambekele ekubeni nezihlunu ezibuthathaka zokuphefumla kunye nezifuba ezimile ngokungaqhelekanga. Oku kunokubangela ubunzima bokuphefumla.

Uninzi lwabantwana abanolu hlobo lwee-SMA abaphili ngaphambili kubuntwana obudala. Nangona kunjalo, unyango olutsha ekujoliswe kulo lunokunceda ukuphucula imeko yabantwana abakule meko.

Uhlobo lwe-2

Uhlobo lwe-2 SMA lukwabizwa ngokuba sisifo seDubowitz okanye iSMA ephakathi.

Ukuba umntwana wakho unohlobo lwe-2 SMA, imiqondiso kunye neempawu zale meko ziya kuvela phakathi kweminyaka emi-6 ukuya kwi-18 yeenyanga.

Abantwana abane-2 SMA bafunda ukuhlala bodwa. Nangona kunjalo, amandla abo emisipha kunye nezakhono zemoto zihlala zincipha ngokuhamba kwexesha. Ekugqibeleni, bahlala befuna inkxaso engaphezulu yokuhlala.

Abantwana abanolu hlobo lwe-SMA ngokwesiqhelo abanakufunda ukuma okanye ukuhamba ngaphandle kwenkxaso. Bahlala bephuhlisa ezinye iimpawu okanye iingxaki, njengokungcangcazela ezandleni zabo, ukugoba okungaqhelekanga komqolo wabo, kunye nobunzima bokuphefumla.

Uninzi lwabantwana abane-2 SMA baphila kwi-20s okanye kwi-30s yabo.

Iindidi 3 no 4

Ngamanye amaxesha, iintsana zizalwa zineentlobo ze-SMA ezingazivelisi iimpawu ezibonakalayo kude kube kamva ebomini.

Uhlobo lwe-3 SMA lukwabizwa ngokuba sisifo seKugelberg-Welander okanye i-SMA encinci. Ivela emva kweenyanga ezili-18 ubudala.

Uhlobo lwe-4 SMA lukwabizwa ngokuba kukufikisa- okanye ukuqala kweSMA kwabantu abadala. Kubonakala emva kobuntwana kwaye kuthanda ukudala kuphela iimpawu ezinobulali ukuya kumodareyitha.

Abantwana kunye nabantu abadala abane-3 okanye uhlobo lwe-4 SMA banokufumana ubunzima ngokuhamba okanye ezinye iintshukumo, kodwa bathambekele ekubeni nolindelo lobomi oluqhelekileyo.

Unobangela weSMA

I-SMA ibangelwa lutshintsho kwi I-SMN1 Uhlobo. Uhlobo kunye nobuzaza bemeko buchaphazeleka kwinani nakwiikopi ze I-SMN2 Uhlobo lomntwana analo.

Ukuphuhlisa i-SMA, umntwana wakho kufuneka abe neekopi ezimbini ezichaphazelekayo I-SMN1 Uhlobo. Kwiimeko ezininzi, iintsana zizuza njengelinye ikopi echaphazelekayo yemfuza kumzali ngamnye.

Inkqubo ye- I-SMN1 kwaye I-SMN2 zemfuza zinika imiyalelo emzimbeni malunga nendlela yokuvelisa uhlobo lweprotein eyaziwa ngokuba yi-protein motor neuron (SMN) protein. Iprotein yeSMN ibalulekile kwimpilo yee-motor neurons, uhlobo lweeseli zemithambo-luvo olugqithisa imiqondiso ukusuka kwingqondo nakwintambo yomqolo ukuya kwiimisipha.

Ukuba umntwana wakho une-SMA, umzimba wabo awukwazi ukuvelisa iiproteni ze-SMN ngokufanelekileyo. Oku kubangela ukuba ii-motor neurons emzimbeni wazo zife. Ngenxa yoko, umzimba wabo awunakuthumela ngokufanelekileyo imiqondiso yemoto ukusuka kumqolo womqolo ukuya kwimisipha yabo, ekhokelela kubuthathaka bemisipha, kwaye ekugqibeleni ibangele ukonakala kwemisipha ngenxa yokunqongophala kokusetyenziswa.

Ukuchongwa kwe-SMA

Ukuba umntwana wakho ubonakalisa iimpawu okanye iimpawu ze-SMA, ugqirha wabo angayalela ukuvavanywa kofuzo ukujonga ukutshintsha kwemfuza okubangela imeko. Oku kuya kunceda ugqirha wabo ukuba afunde ukuba iimpawu zomntwana wakho zibangelwa yi-SMA okanye esinye isifo.

Kwezinye iimeko, ukuguqulwa kwemfuza okubangela ukuba le meko ifumaneke ngaphambi kokuba iimpawu zikhule. Ukuba wena okanye iqabane lakho unembali yosapho ye-SMA, ugqirha wakho unokucebisa ngokuvavanywa kofuzo kumntwana wakho, nokuba umntwana wakho ubonakala esempilweni. Ukuba uvavanyo lomntwana wakho luchanekile kutshintsho lwemfuza, ugqirha wakhe unokucebisa ukuba aqale unyango kwangoko lwe-SMA.

Ukongeza kuvavanyo lwemfuza, ugqirha wakho unokuyalela i-biopsy yemisipha ukujonga umsipha womntwana wakho ukuba uneempawu zesifo semisipha. Banokuyalela i-electromyogram (EMG), uvavanyo olubavumela ukuba balinganise umsebenzi wombane wezihlunu.

Unyango lwe-SMA

Okwangoku akukho lunyango lweSMA. Nangona kunjalo, unyango oluninzi luyafumaneka ukunceda ukucothisa ukuqhubela phambili kwesi sifo, ukunciphisa iimpawu, kunye nokulawula iingxaki ezinokubakho.

Ukubonelela ngenkxaso efunwa lusana lwakho, ugqirha wabo kufuneka akuncede uqokelele iqela lezemfundo eliqela. Ukuhlolwa rhoqo kwamalungu eli qela kubalulekile ekulawuleni imeko yomntwana wakho.

Njengengxenye yesicwangciso sonyango esinconywayo, iqela lezempilo lomntwana wakho linokucebisa enye okanye ngaphezulu koku kulandelayo:

• Unyango ekujoliswe kulo. Ukunceda ukucotha okanye ukunciphisa ukuqhubela phambili kwe-SMA, ugqirha womntwana wakho unokumisela kwaye alawule amayeza enalisayo nusinersen (Spinraza) okanye onasemnogene abeparvovec-xioi (Zolgensma). La mayeza ajolise kwizizathu zesifo.
• Unyango lokuphefumla. Ukunceda umntwana wakho aphefumle, iqela labo lezempilo linokumisela isifuba somzimba, umoya opholileyo, okanye olunye unyango lokuphefumla.
• Unyango olusempilweni. Ukunceda umntwana wakho ukuba afumane izakha-mzimba kunye neekhalori abazidingayo ukuze akhule, ugqirha wabo okanye ugqirha otya ukutya usenokuncomela ukongezwa kwezondlo okanye ityhubhu yokondla.
• Unyango kunye nonyango oludibeneyo. Ukukunceda ukolula izihlunu kunye namalungu, iqela lezempilo lomntwana wakho linokumisela imithambo yonyango lomzimba. Banokucebisa ukuba kusetyenziswe izihlwitha, izihlangu zezilima, okanye ezinye izixhobo zokuxhasa ukuma komzimba okunempilo kunye nokubekwa ngokudibeneyo.
• Amayeza. Ukunyanga i-reflux ye-gastroesophageal, ukuqhina, okanye ezinye iingxaki ezinokubakho ze-SMA, iqela lezempilo lomntwana wakho linokuyalela iyeza elinye okanye nangaphezulu.

Njengoko umntwana wakho ekhula, iimfuno zabo zonyango ziya kutshintsha. Umzekelo, ukuba baneziphene zomqolo okanye i-hip, banokufuna utyando ebuntwaneni okanye ebudaleni.

Ukuba ukufumanisa kunzima ngokwasemoyeni ukujongana nemeko yosana lwakho, yazisa ugqirha wakho. Banokucebisa ngokucebisa okanye ngezinye iinkonzo zenkxaso.

Izixhobo ezizodwa zomntwana

Ugqirha womzimba womntwana wakho, ugqirha osebenza emsebenzini, okanye amanye amalungu eqela labo lezempilo banokukukhuthaza ukuba utyale imali kwizixhobo ezizodwa ukubanceda.

Umzekelo, banokucebisa:

• izinto zokudlala ezinobunzima obulula
• izixhobo zokuhlamba ezizodwa
• ii-cribs ezilungelelanisiweyo kunye nabahambi
• imithwalo ebunjiweyo okanye ezinye iinkqubo zokuhlala kunye neenkxaso zangasemva

Ingcebiso ngemfuzo

Ukuba nabani na kusapho lwakho okanye usapho lweqabane lakho une-SMA, ugqirha wakho unokukukhuthaza kunye neqabane lakho ukuba nifumane iingcebiso ngemfuzo.

Ukuba ucinga ngokuba nomntwana, umcebisi ngemfuza unokukunceda wena neqabane lakho nivavanye kwaye niqonde amathuba okuba nomntwana one-SMA.

Ukuba sele unomntwana one-SMA, umcebisi ngemfuza unokukunceda uvavanye kwaye uqonde amathuba okuba ube nomnye umntwana onale meko.

Ukuba unabantwana abaninzi kwaye omnye wabo ufunyaniswa ene-SMA, kunokwenzeka ukuba abantakwabo banokuthi baphathe ii-genes ezichaphazelekayo. Umntakwenu usenokuba nesifo kodwa angabonisi mpawu zibonakalayo.

Ukuba ugqirha wakho ukholelwa ukuba nabaphi na abantwana bakho basemngciphekweni wokuba ne-SMA, banoku-odola uvavanyo lwemfuzo. Ukuchongwa kwangoko kunye nonyango kunokunceda ukuphucula imeko yexesha elide yomntwana wakho.

Ukuthatha

Ukuba umntwana wakho une-SMA, kubalulekile ukuba afumane uncedo kwiqela leengcali ezahlukeneyo zononophelo lwempilo. Banokukunceda uqonde imeko yomntwana wakho kunye nokhetho lonyango.

Ngokuxhomekeke kwimeko yomntwana wakho, iqela labo lezempilo linokucebisa unyango ngonyango olujolisiweyo. Banokucebisa ngolunye unyango okanye uhlengahlengiso kwindlela yokuphila ukunceda ukulawula iimpawu kunye neengxaki ezinokubakho zeSMA.

Ukuba ukufumanisa kunzima ukujongana nemiceli mngeni yokunyamekela umntwana one-SMA, yazisa ugqirha wakho. Banokukuthumela kumcebisi, kwiqela lenkxaso, okanye eminye imithombo yenkxaso. Ukuba nenkxaso yemvakalelo oyifunayo kunokukwenza ukuba ulunyamekele ngcono usapho lwakho.