Ngaba wakha waziva ngathi umntwana wakho omncinci udiniwe kancinci, okanye akasebenzi kakuhle njengabanye abantwana? Mhlawumbi umntwana wakho unobunzima bokubamba intamo yakhe kakuhle, okanye umzimba wakhe uvakala ngathi ukhululekile? Kuqhelekile ukuba umzali okanye umzali azive esoyika xa ebona into efana nale. Namhlanje siza kuthetha ngesimo esingaqhelekanga esinokubangela ezi mpawu, kodwa esingathethwa kakhulu ngaso kuluntu. Loo nto yi-Spinal Muscular Atrophy, okanye i-SMA ngamafutshane. Musa ukoyika xa usiva eli gama. Kweli nqaku, siza kuthetha ngesi sifo ngokulula, ngendlela onokuyiqonda.
Yintoni kanye kanye i-SMA?
Ngamafutshane, i-Spinal Muscular Atrophy (SMA) yimeko yemfuza (ezuzwe njengelifa). Sisifo esinxulumene nenkqubo yemithambo-luvo. Ngenxa yesi sifo, ezinye izihlunu emzimbeni wethu ziyathamba kancinci kancinci kwaye ziyaphela. Njengesixhobo esingasetyenziswanga siyagqwala kancinci kancinci.
Masicacise oku kancinci. Ingqondo yethu kunye nomqolo wethu zithumela imiyalezo kwimisipha esemzimbeni wethu zisithi mayishukume. Le miyalezo ithwalwa luhlobo oluthile lweseli yemithambo-luvo esebenza njengentambo yombane. Sibiza ezi neurons ze-motor ezisezantsi . Okwenzekayo kwi-SMA kukuba ezi neurons ze-motor zitshatyalaliswa kancinci kancinci. Emva koko umyalezo ovela ebuchotsheni uye kwimisipha othi "shukuma" awufumaneki ngokufanelekileyo. Xa umyalezo ungafumaneki, imisipha ayisebenzi kwaye kancinci kancinci ibuthathaka.
Khawucinge ukuba kuya kwenzeka ntoni ukuba intambo yombane yeTV yakho ekhaya iyaphuka? Nokuba iTV ilungile kangakanani na, ayizukusebenza, akunjalo? Kunjalo ke ngale nto. Nokuba izihlunu zakho ziphilile, ukuba iiseli zemithambo-luvo ezithumela imiyalezo kuzo ziyatshatyalaliswa, izihlunu azizukusebenza.
Kwesi sifo, izihlunu ezikufutshane nombindi womzimba (izihlunu ezikufutshane) zibuthathaka kakhulu. Umzekelo, iindawo ezifana namagxa, amanqe, namathanga. Izihlunu ezikude nombindi womzimba (izihlunu ezikude), njengeminwe, azichaphazeleki kangako. Obu buthathaka buyanda ngokuhamba kwexesha.
Ziziphi iintlobo eziphambili ze-SMA?
I-SMA ayifani yonke. Oogqirha bayahlulahlula ibe ziintlobo ezintlanu eziphambili ngokusekwe kubudala apho iimpawu ziqala khona, ubunzima besifo, kunye nobomi bomntu. Ukuqonda olu hlobo kunokukunceda usiqonde ngcono esi sifo.
| Uhlobo lwe-SMA | Ubudala bokuqala kweempawu | Iimpawu eziphambili kunye nobunzima |
|---|---|---|
| Uhlobo 0 (I-Congenital SMA) | Ngaphambi kokuzalwa (kwinqanaba lokukhulelwa) | Uhlobo olunqabileyo nolunzima kakhulu. Umntwana akashukumi kakhulu esibelekweni. Ubuthathaka obukhulu bemisipha kunye nokungaphumeleli kokuphefumla kwenzeka xa ezalwa. Umntwana udla ngokufa xa ezalwa okanye kwinyanga yokuqala. |
| Uhlobo 1 (Isifo sikaWerdnig-Hoffman) | kwiinyanga ezi-6 ezidlulileyo | Malunga nama-60% ezigulane ezine-SMA ziwela kolu luhlu. Ubunzima bokulawula intamo, i-hypotonia , ubunzima bokuginya, kunye nokuphefumla zezona mpawu ziphambili. Ngaphandle kwenkxaso yokuphefumla, uninzi lwabantwana lufa ngaphambi kokuba bafikelele kwiminyaka emi-2. |
| Uhlobo 2 (Isifo saseDubowitz) | Phakathi kweenyanga ezi-6 nezi-18 | Aba bantwana banokuhlala phantsi, kodwa abakwazi ukuhamba. Ubuthathaka bemisipha buyanda kancinci kancinci, ingakumbi emilenzeni. Ukungaphumeleli kokuphefumla yeyona nto iphambili ebangela ukufa. Malunga nama-70% aphila ade abe neminyaka engama-25 ubudala. |
| Uhlobo 3 (Isifo sikaKugelbert-Welander) | Emva kweenyanga ezili-18 | Iimpawu azibalulekanga kangako. Ubunzima bokuhamba. Iingxaki zokuphefumla azixhaphakanga. Unokuhlala uphila ubomi obuqhelekileyo. |
| Uhlobo 4 (Ukuqala kwabantu abadala) | Emva kweminyaka engama-21 | Uhlobo olulula kakhulu. Iimpawu zikhula kancinci kakhulu. Uninzi lwabantu lunokwenza imisebenzi yabo kwaye luhambe. Ixesha lokuphila alisoloko lichaphazeleka. |
Kutheni esi sifo se-SMA senzeka? Yintoni unobangela?
Njengoko besitshilo ngaphambili, esi sisifo semfuza. Oko kuthetha ukuba sibangelwa sisiphene kwimfuza yethu.
Kukho ijini emzimbeni wethu ebizwa ngokuba yi -SMN1 (Survivor Motor Neuron 1) . Umsebenzi ophambili wale jini kukuvelisa iproteni (iproteni ye-SMN) ebalulekileyo ekusindeni kwee-motor neurons esithethe ngazo ngaphambili. Umntu one-SMA une-mutation okanye isiphene kule jini ye-SMN1. Ke ngoko, umzimba awuvelisi iproteni eyaneleyo ye-SMN. Ngaphandle kwale protein, ii-motor neurons azinakuphila. Ziyancipha kancinci kancinci zize zife.
Ngoko ke yintoni i-SMN2 gene?
Ngethamsanqa, imizimba yethu inesinye isini esifana nesini se-SMN1. Leyo yi- SMN2 gene. Oku kufana 'nokugcinwa' kwesini se-SMN1 gene. Nangona kunjalo, esi sini se-SMN2 gene sivelisa kuphela inani elincinci kakhulu leprotheyini ye-SMN.
Ubunzima besifo bumiselwa linani leekopi zejini ye-SMN2. Okukhona umntu enazo iikopi ezininzi zejini ye-SMN2, kokukhona umzimba wakhe uvelisa iiproteni ezininzi ze-SMN. Ke ngoko, nokuba ijini ye-SMN1 ayisebenzi, ukusilela kwayo kunokubuyiselwa kwinqanaba elithile. Ke ngoko, iimpawu zabo baneekopi ezininzi ze-SMN2 azibalulekanga.
Esi sifo sifunyanwa njani ngumntwana?
Oku kuzuzwa njengelifa kwi -autosomal recessive pattern. Oku kuthetha ukuba ukuze umntwana abe nesi sifo, umama notata kufuneka bazuze i-SMN1 gene enesiphene.
Amaxesha amaninzi, bobabini abazali "bathwala" - baphethe ikopi enye yejini enesiphene. Kodwa abanazo iimpawu kuba banejini enye elungileyo ye-SMN1. Xa abazali ababini abathwala umntwana,
- Kukho amathuba angama-25% okuba umntwana afumane esi sifo.
- Kukho amathuba angama-50% okuba umntwana naye abe nesifo.
- Umntwana unethuba elingama-25% lokuba sempilweni ngaphandle kweziphene.
Ifunyaniswa njani i-SMA?
Ukuba umntwana wakho urhanelwa ukuba une-SMA, ugqirha uza kuqala akubuze ngeempawu zomntwana wakho kunye nembali yezonyango zosapho. Emva koko baza kwenza uvavanyo lomzimba nolwemithambo-luvo.
Uvavanyo oluphambili lokuqinisekisa ukuba kukho i-SMA kuvavanyo lwemfuza. Olu luvavanyo lwegazi olulula. Lunokuyixilonga ngokuchanekileyo i-SMA ngama-95% exesha. Kumazwe aphuhlileyo, zonke iintsana ezisandul’ ukuzalwa ngoku ziyavavanywa kwesi sifo.
Ngamanye amaxesha iimpawu ze-SMA zinokufana nezinye izifo ze-neuromuscular, ezifana ne-muscular dystrophy. Ngoko ke ukuba ugqirha wakho akayirhaneli i-SMA ngoko nangoko, unokuyalela ezinye iimvavanyo ukuze kufunyanwe unobangela, ezifana nezi:
- Uvavanyo lwegazi lweCreatine Kinase (CK): Le enzyme iqokelelana egazini xa izihlunu zonakele. Nangona kunjalo, amanqanaba e-CK adla ngokunganyuki kwi-SMA.
- I-Electromyogram (EMG) kunye noPhando lokuHanjiswa kweMithambo:Ezi mvavanyo zilinganisa umsebenzi wombane wezihlunu kunye nemithambo-luvo.
- I-Biopsy yeMisipha: Oku akusenziwa rhoqo. Apha, kuthathwa iqhekeza elincinci lemisipha lize lihlolwe.
Ngaba oku kungafunyanwa ngexesha lokukhulelwa?
Ewe. Ukuba kukho umntu kusapho lwakho one-SMA, ungavavanya umntwana wakho ongekazalwa ukuze afumane esi sifo ngexesha lokukhulelwa. Kukho iimvavanyo ezimbini eziphambili:
1. I-Amniocentesis: Kule nkqubo, inani elincinci lolwelo lwe-amniotic olujikeleze umntwana esibelekweni lisuswa ngesirinji kwaye livavanywe ngokwemfuza.
2. I-Chorionic Villus Sampling (CVS): Apha, kuthathwa iqhekeza elincinci lesicwili kwi-placenta lize lihlolwe.
Ziziphi iindlela zonyango ze-SMA?
Ngelishwa, akukho nyango lwe-SMA okwangoku. Kodwa ungakhathazeki. Zininzi izinto onokuzenza ukulawula iimpawu, ukuthintela iingxaki, nokwenza ubomi bomntwana wakho bube lula. Ukongeza, kukho amayeza asebenzayo kakhulu afunyenwe kutshanje anokutshintsha indlela esi sifo.
Unyango lunokwahlulwa lube ziinxalenye ezimbini eziphambili:
1. Ulawulo lweempawu kunye nonyango oluxhasayo
Ezi zenzelwe ukunciphisa ukungonwabi okubangelwa sisifo kwaye zincede umntwana aphile ubomi obungcono kangangoko.
- Unyango lomzimba: Lunceda ukugcina ukuma okufanelekileyo, luthintele ukuqina kwamalungu, kunye nobuthathaka bemisipha obucothayo.
- Unyango lomsebenzi: Lunceda umntwana ukuba enze imisebenzi yemihla ngemihla eyedwa.
- Izixhobo zokuncedisa: Kusenokufuneka usebenzise izixhobo ezahlukeneyo zokuncedisa, ezifana neebraces, iintonga, izixhobo zokuhamba, kunye nezitulo ezinamavili.
- Unyango lokuthetha nokuginya: Lunceda kwiingxaki zokuthetha nokuginya.
- Umbhobho wokutyisa: Ukuba ukuginya kunzima kakhulu okanye kuyingozi, umbhobho ungafakwa ngempumlo okanye esiswini ngqo esiswini.
- Ukuncedisa ekuphefumleni: Xa kukho ubunzima bokuphefumla, kufuneka kusetyenziswe oomatshini abakhethekileyo (ii-ventilators).
2. Amayeza atshintsha indlela esi sifo esihamba ngayo
Ukususela ngo-2016, kuye kwaziswa amayeza aliqela atshintshe indlela ekunyangelwa ngayo i-SMA. La mayeza anokutshintsha kakhulu indlela esi sifo esiqhubeka ngayo.
- Unyango Oluguqula Izifo: La mayeza asebenza ngokuvuselela i-'backup' gene esathetha ngayo ngaphambili, i-SMN2 gene, kwaye ibangela ukuba ivelise i-SMN protein engaphezulu. I-Nusinersen (Spinraza®) kunye ne -Risdiplam (Evrysdi®) zezo hlobo lweyeza.
- Unyango Lokutshintshwa Kwezakhi Zofuzo: Le yindlela yonyango ephucukileyo kakhulu.Iyeza le-onasemnogene abeparvovec-xioi (Zolgensma®) lithatha indawo yejini ye-SMN1 engekhoyo okanye enesiphako ngejini ye-SMN1 esebenzayo. Olu lunyango olunikwa kube kanye nge-intravenously (IV).
Okubaluleke kakhulu, olu nyango lutsha lusebenza kakuhle xa luqalwa ngaphambi kokuba kuvele iimpawu, okanye kwinqanaba lokuqala. Yiyo loo nto ukuxilongwa kwangoko kubaluleke kangaka.
Ukuqhubela phambili kwesifo se-SMA kunye neengxaki ezinokubakho
Ekuhambeni kwexesha, ubuthathaka bemisipha bunokukhokelela kwiingxaki ezahlukeneyo.
- I-Scoliosis , ukukhubeka kwesinqe, ukwaphuka kwamathambo.
- Ukungondleki kakuhle kunye nokuphelelwa ngamanzi emzimbeni ngenxa yobunzima bokuginya ukutya.
- Izifo zesifuba ezifana ne -aspiration pneumonia ezibangelwa kukutya okungena kwindlela yomoya.
- Ubuthathaka bemiphunga kunye nobunzima bokuphefumla.
Ixesha lokuphila komntwana one-SMA liyahluka kakhulu ngokuxhomekeke kuhlobo lwesifo. Kwiintlobo 3 kunye no-4, ixesha lokuphila alisoloko lichaphazeleka kakhulu. Kwiimeko ezinzima kakhulu ezifana nohlobo 1, imingeni iba mikhulu. Nangona kunjalo, ngonyango olutsha olungenisiweyo, ixesha lokuphila kunye nomgangatho wobomi, ngakumbi kubantwana abanesifo sohlobo 1, ngoku linyuke kakhulu. Ke ngoko, umntu ongcono ukwazi ulwazi oluchanekileyo malunga nemeko yomntwana wakho ngugqirha wakho.
Umyalezo Wokuya Ekhaya
- I-SMA sisifo semfuza esizuzwe njengelifa esonakalisa iiseli zemithambo-luvo ezithwala imiyalezo esuka engqondweni ukuya kwimisipha.
- Ubunzima besifo buyahluka ngokuxhomekeke kuhlobo (Uhlobo 0 ukuya ku-4).
- Ukuba umntwana wakho uneempawu ezifana nokudinwa, ukungakwazi ukuhamba, okanye ubunzima bokulawula intamo yakhe, kubaluleke kakhulu ukubona ugqirha ngoko nangoko.
- Namhlanje, kukho amayeza asebenzayo kakhulu, anamhlanje anokutshintsha indlela ye-SMA. Okukhona unyango luqalwa ngokukhawuleza, kokukhona iziphumo zingcono.
- Ukulawula esi sifo kufuna inkxaso yeqela lezonyango, kuquka oogqirha, iingcali zonyango lomzimba, kunye neengcali zonyango lomzimba.
- Kuqhelekile ukuba uzive usoyika kwaye uxhalabile xa ufunda nge-SMA. Musa ukuthandabuza ukufumana inkxaso yeemvakalelo oyifunayo wena nosapho lwakho.
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