Ukwaphula iintlobo ezahlukeneyo zeSpinal Muscular Atrophy

Umxholo

• Yintoni ebangela ii-SMA?
• Uhlobo lwe-1 SMA
• Xa iimpawu ziqala
• Iimpawu
• Imbonakalo
• Uhlobo lwe-2 SMA
• Xa iimpawu ziqala
• Iimpawu
• Imbonakalo
• Uhlobo lwe-3 SMA
• Xa iimpawu ziqala
• Iimpawu
• Imbonakalo
• Uhlobo lwe-4 SMA
• Xa iimpawu ziqala
• Iimpawu
• Imbonakalo
• Iindidi eziqhelekileyo zeSMA
• Ukuthatha

I-Spinal muscular atrophy (SMA) yimeko yemfuza echaphazela umntu omnye kwabayi-6,000 ukuya kuma-10 000. Ithintela umntu ukuba akwazi ukulawula ukuhamba kwemisipha. Nangona wonke umntu one-SMA enokutshintsha kwemfuza, ukuqala, iimpawu kunye nokuqhubela phambili kwesi sifo kuyahluka kakhulu.

Ngesi sizathu, i-SMA ihlala yahlulwa yaya kwiindidi ezine. Ezinye iindlela ezinqabileyo ze-SMA zibangelwa kukutshintsha kwemfuza eyahlukileyo.

Funda ukuze ufunde malunga neendidi ezahlukeneyo ze-SMA.

Yintoni ebangela ii-SMA?

Zonke ezi ndidi zeSMA zibangelwa kukusilela kweproteni ebizwa ngokuba yi-SMN, emele “ukusinda kwe-motor neuron.” I-motor neurons ziiseli zemithambo-luvo kwintambo yomqolo inoxanduva lokuthumela imiqondiso kwimisipha yethu.

Xa utshintsho (impazamo) lwenzeka kuzo zombini iikopi ze I-SMN1 yemfuza (enye kwikopi nganye ye-chromosome 5), ikhokelela ekusweleni kwiprotein yeSMN. Ukuba iprotein encinci ye-SMN ivelisiwe, ikhokelela kwiingxaki zomsebenzi weemoto.

Imfuza yommelwane I-SMN1, Kubizwe I-SMN2 zemfuza, ziyafana kubume be I-SMN1 zofuzo. Banokuthi ngamanye amaxesha bancede ukusombulula ukunqongophala kweprotein ye-SMN, kodwa inani le I-SMN2 Imizila yemfuza iyatshintsha ukusuka komnye umntu uye komnye. Ke uhlobo lwe-SMA luxhomekeke ekubeni mangaphi I-SMN2 Imfuza umntu kufuneka ayincede ibenzele I-SMN1 Ukutshintsha kwemfuza. Ukuba umntu one-chromosome 5-enxulumene ne-SMA uneekopi ezingaphezulu ze I-SMN2 yemfuza, banokuvelisa iprotein esebenzayo ye-SMN. Ngokubuyisa, ii-SMA zabo ziya kuba mandundu ngesiqalo samva kunomntu oneekopi ezimbalwa ze- I-SMN2 Uhlobo.

Uhlobo lwe-1 SMA

Uhlobo lwe-1 SMA lukwabizwa ngokuba sisifo se-SMA okanye isifo se-Werdnig-Hoffmann. Ngokwesiqhelo, olu hlobo lubangelwa kukuba neekopi ezimbini kuphela ze I-SMN2 ufuzo, enye kwi-chromosome nganye 5. Ngaphezulu kwesiqingatha sokuchongwa kwe-SMA entsha luhlobo 1.

Xa iimpawu ziqala

Iintsana ezinohlobo lwe-1 SMA ziqala ukubonisa iimpawu kwiinyanga ezintandathu zokuqala emva kokuzalwa.

Iimpawu

Iimpawu zohlobo lwe-1 SMA zibandakanya:

• buthathaka, iingalo kunye nemilenze yefloppy (hypotonia)
• isikhalo esibuthathaka
• iingxaki zokuhamba, ukuginya kunye nokuphefumla
• ukungakwazi ukuphakamisa intloko okanye ukuhlala ngaphandle kwenkxaso

Imbonakalo

Iintsana ezinohlobo lwe-1 SMA ebezisoloko zingaphili ngaphezulu kweminyaka emibini. Kodwa ngetekhnoloji entsha kunye nenkqubela phambili yanamhlanje, abantwana abane-1 SMA banokuphila iminyaka eliqela.

Uhlobo lwe-2 SMA

Uhlobo lwe-2 SMA lukwabizwa ngokuba yi-SMA ephakathi. Ngokubanzi, abantu abane-2 SMA banobuncinci ezintathu I-SMN2 zofuzo.

Xa iimpawu ziqala

Iimpawu zohlobo lwe-2 SMA zihlala ziqala xa umntwana ephakathi kwe-7 ne-18 yeenyanga ubudala.

Iimpawu

Iimpawu zohlobo lwe-2 SMA zihlala zingaphantsi kohlobo lwe-1 zibandakanya:

• ukungakwazi ukuzimela ngokwabo
• iingalo nemilenze ebuthathaka
• ukungcangcazela eminweni nasezandleni
• scoliosis (umqolo ogobileyo)
• izihlunu zokuphefumla ezibuthathaka
• ubunzima bokukhohlela

Imbonakalo

Uhlobo lwe-2 SMA lunokunciphisa ixesha lokuphila, kodwa uninzi lwabantu olune-2 SMA luyasinda lube mdala kwaye luphila ubomi obude. Abantu abane-2 SMA kuya kufuneka basebenzise isitulo esinamavili ukuhamba. Basenokufuna izixhobo zokubanceda baphefumle ngcono ebusuku.

Uhlobo lwe-3 SMA

Uhlobo lwe-3 SMA lunokubhekiswa njenge-SMA yokufika kade, i-SMA emnene, okanye isifo se-Kugelberg-Welander. Iimpawu zolu hlobo lwe-SMA ziyahluka ngakumbi. Abantu abanohlobo lwe-3 SMA ngokubanzi banaphakathi kwesine nesibhozo I-SMN2 zofuzo.

Xa iimpawu ziqala

Iimpawu ziqala emva kweenyanga ezili-18 ubudala. Ihlala ifunyaniswa ineminyaka emi-3, kodwa eyona minyaka iqalayo iyahluka. Abanye abantu abanakuqala ukuba neempawu de babe badala.

Iimpawu

Abantu abane-3 SMA bahlala bekwazi ukuzihambela, kodwa banokuphulukana namandla okuhamba xa bebadala. Ezinye iimpawu zibandakanya:

• ubunzima bokuphakama kwiindawo ezihleli phantsi
• iingxaki zokulinganisela
• ubunzima bokunyuka amanyathelo okanye ukubaleka
• scoliosis

Imbonakalo

Uhlobo lwe-3 SMA alutshintshi ngokubanzi ubomi bomntu, kodwa abantu abanolu hlobo basemngciphekweni wokutyeba kakhulu. Amathambo abo anokuba buthathaka kwaye aphule ngokulula.

Uhlobo lwe-4 SMA

Uhlobo lwe-4 SMA lukwabizwa ngokuba yi-SMA yabantu abadala. Abantu abane-4 SMA baphakathi kwesine nesibhozo I-SMN2 zemfuza, ukuze zikwazi ukuvelisa inani elifanelekileyo leprotein yesiqhelo ye-SMN. Uhlobo lwe-4 lolona luqhelekileyo kwezi zine iintlobo.

Xa iimpawu ziqala

Iimpawu zohlobo lwe-4 SMA zihlala ziqala ebudaleni, ngesiqhelo emva kweminyaka engama-35.

Iimpawu

Uhlobo lwe-4 SMA lunokuqhubeka lusiba mandundu ngokuhamba kwexesha. Iimpawu zibandakanya:

• ubuthathaka ezandleni nasezinyaweni
• ubunzima bokuhamba
• ukungcangcazela nokujija izihlunu

Imbonakalo

Uhlobo lwe-4 SMA alutshintshi iminyaka yokuphila komntu, kwaye izihlunu ezisetyenziselwa ukuphefumla nokuginya zihlala zingachaphazeleki.

Iindidi eziqhelekileyo zeSMA

Ezi ntlobo ze-SMA zinqabile kwaye zibangelwa ziinguqu ezahlukeneyo zofuzo kunezo zichaphazela iprotein yeSMN.

• Umqolo we-atrophy ye-muscular enexinzelelo lokuphefumla (SMARD) luhlobo olunqabileyo kakhulu lwe-SMA olubangelwa kukutshintsha kwemfuza IGHMBP2. ISMARD ifunyaniswa kwiintsana kwaye ibangela iingxaki zokuphefumla ezinzima.
• Isifo sikaKennedy, okanye i-spinal-bulbar muscular atrophy (SBMA), luhlobo olunqabileyo lwe-SMA oluhlala luchaphazela kuphela amadoda. Ihlala iqala phakathi kweminyaka engama-20 ukuya kwengama-40. Iimpawu zibandakanya ukungcangcazela kwezandla, iinyikima zezihlunu, ukuba buthathaka kwamalungu omzimba nokujijeka. Ngelixa inokubangela ubunzima bokuhamba kamva ebomini, olu hlobo lwe-SMA aluhlali lutshintsha ixesha lokuphila.
• I-SMA ekude luhlobo olunqabileyo olubangelwa kukutshintsha kolunye lwezinto ezininzi zofuzo, kubandakanya UBA1, IINKCUKACHA, kunye IIMPAWU. Ichaphazela iiseli zemithambo-luvo kwintambo yomqolo. Iimpawu zihlala ziqala ngexesha lokufikisa kwaye zibandakanya iicramps okanye ubuthathaka kunye nokonakala kwezihlunu. Ayichaphazeli iminyaka yobomi.

Ukuthatha

Kukho iintlobo ezine ezahlukeneyo ze-chromosome 5 ezinxulumene ne-SMA, ngokuhambelana nokunxibelelana nobudala apho iimpawu ziqala khona. Uhlobo luxhomekeke kwinani le I-SMN2 zemfuza umntu kufuneka ancede ukusombulula uguquko kwi I-SMN1 Uhlobo. Ngokubanzi, ubudala bokuqala bokuqala buthetha iikopi ezimbalwa ze I-SMN2 kunye nefuthe elikhulu ekusebenzeni kweemoto.

Abantwana abanohlobo 1 lwe-SMA banelona nqanaba lisezantsi lokusebenza. Iindidi ze-2 ukuya kwezi-4 zibangela iimpawu ezinzima. Kubalulekile ukuba uqaphele ukuba i-SMA ayichaphazeli ingqondo yomntu okanye amandla akhe okufunda.

Ezinye iindlela ezinqabileyo ze-SMA, kubandakanya i-SMARD, i-SBMA, kunye ne-distA SMA, zibangelwa lutshintsho olwahlukileyo olunepateni eyahlukileyo yelifa. Thetha nogqirha wakho ukuze ufumane okungakumbi malunga nemfuza kunye nembonakalo yohlobo oluthile.