Umqolo weAthene Atrophy

Umxholo

• Isishwankathelo
• Yintoni i-spinal muscular atrophy (SMA)?
• Zithini iintlobo ze-spinal muscular atrophy (SMA) kwaye zithini iimpawu zazo?
• Yintoni ebangela i-spinal muscular atrophy (SMA)?
• Ichongwa njani i-spinal muscular atrophy (SMA)?
• Luthini unyango lwe-spinal muscular atrophy (SMA)?

Isishwankathelo

Yintoni i-spinal muscular atrophy (SMA)?

I-Spinal muscular atrophy (i-SMA) liqela lezifo zemfuzo ezonakalisa nokubulala ii-motor neurons. I-motor neurons luhlobo lweeseli zemithambo-luvo kumqolo womqolo kunye nenxalenye esezantsi yengqondo. Zilawula intshukumo ezingalweni zakho, imilenze, ubuso, isifuba, umqala nolwimi.

Njengokuba iimotor neurons zifa, izihlunu zakho ziqala ukuba buthathaka kunye neatrophy (inkunkuma kude). Umonakalo wemisipha uya usiba mandundu ngokuhamba kwexesha kwaye unokuchaphazela ukuthetha, ukuhamba, ukugwinya kunye nokuphefumla.

Zithini iintlobo ze-spinal muscular atrophy (SMA) kwaye zithini iimpawu zazo?

Kukho iintlobo ezahlukeneyo ze-SMA. Zisekwe kwisifo esibi kangakanani na kwaye xa iimpawu ziqala:

• Chwetheza l Ikwabizwa ngokuba sisifo seWerdnig-Hoffman okanye ukuqala kweentsana kwi-SMA. Olu lolona hlobo luqatha. Ikwayinto eqhelekileyo. Iintsana ezinolu hlobo zihlala zibonisa iimpawu zesi sifo ngaphambi kweenyanga ezintandathu ubudala. Kwiimeko ezinzima kakhulu, iimpawu ziyavela kwangaphambi okanye emva nje kokuzalwa (Iintlobo 0 okanye 1A). Iintsana zinokuba nengxaki yokuginya nokuphefumla kwaye zisenokungahambi kakhulu. Banokunciphisa okungapheliyo kwezihlunu okanye iithenda (ezibizwa ngokuba zii-contractures). Ngokuqhelekileyo abanakho ukuhlala ngaphandle koncedo. Ngaphandle konyango, abantwana abaninzi abanolu hlobo baya kufa ngaphambi kweminyaka emi-2 ubudala.
• Chwetheza ll luhlobo olulinganiselweyo ukuya kubunzima be-SMA. Ihlala iqaphela phakathi kweenyanga ezili-6 ukuya kwezili-18 ubudala. Uninzi lwabantwana abanolu hlobo banokuhlala ngaphandle kwenkxaso kodwa abakwazi ukuma okanye ukuhamba ngaphandle koncedo. Banokuba nengxaki yokuphefumla. Bahlala bahlala kwinqanaba lokufikisa okanye ebudaleni.
• Chwetheza lll sikwabizwa ngokuba sisifo i-Kugelberg-Welander. Luhlobo oluphantsi oluchaphazela abantwana. Iimpawu zesi sifo zihlala zivela emva kweminyaka yeenyanga ezili-18. Abantwana abanolu hlobo banokuhamba bodwa kodwa banokuba nengxaki yokubaleka, ukuphakama esitulweni, okanye ukunyuka izitepsi. Banokuba ne-scoliosis (ukugoba komqolo), izivumelwano kunye nosulelo lokuphefumla.Ngonyango, uninzi lwabantwana abanolu hlobo baya kuba nexesha eliqhelekileyo lokuphila.
• Uhlobo IV inqabile kwaye ihlala ithambile. Ihlala ibangela iimpawu emva kweminyaka engama-21 ubudala. Iimpawu zibandakanya ubuthathaka bemisipha emilenzeni ukuya phakathi, ukungcangcazela, kunye neengxaki zokuphefumla kancinane. Iimpawu zihamba kancinci ngokuhamba kwexesha. Abantu abanolu hlobo lwe-SMA banobomi obuqhelekileyo.

Yintoni ebangela i-spinal muscular atrophy (SMA)?

Uninzi lweentlobo ze-SMA zibangelwa lutshintsho kuhlobo lwe-SMN1. Olu hlobo lunoxanduva lokwenza iprotein ekufuneka iimoto neurons zibe sempilweni kwaye zisebenze. Kodwa xa inxenye ye-gene ye-SMN1 ilahlekile okanye ingaqhelekanga, akukho protein yaneleyo ye-motor neurons. Oku kubangela ukuba ii-motor neurons zife.

Uninzi lwabantu luneekopi ezimbini zohlobo lwe-SM1-olunye kumzali ngamnye. I-SMA ngokwesiqhelo yenzeka kuphela xa zombini iikopi zitshintshile. Ukuba ikopi enye kuphela enotshintsho, kuhlala kungekho zimpawu. Kodwa loo mfuzo unokudluliselwa usuka kumzali uye emntwaneni.

Ezinye zeentlobo ezingaqhelekanga ze-SMA zinokubangelwa lutshintsho kwezinye zofuzo.

Ichongwa njani i-spinal muscular atrophy (SMA)?

Umboneleli wakho wezempilo unokusebenzisa izixhobo ezininzi ukufumanisa i-SMA:

• Uvavanyo lomzimba
• Imbali yezonyango, kubandakanya ukubuza malunga nembali yosapho
• Ukuvavanywa kwemfuza ukujonga utshintsho olwenzeka kwimfuza olwenza iSMA
• I-Electromyography kunye nezifundo zokuqhutywa kwemithambo-luvo kunye ne-biopsy yemisipha inokwenziwa, ngakumbi ukuba akukho lutshintsho kuhlobo olufunyenweyo

Abazali abanembali yosapho ye-SMA banokufuna ukwenza uvavanyo lokubeleka ukuze babone ukuba umntwana wabo unotshintsho lwe-SMN1. I-amniocentesis okanye kwezinye iimeko isampulu ye-chorionic villi (i-CVS) isetyenziselwa ukufumana isampulu yovavanyo.

Kwamanye amazwe, ukuvavanywa kwemfuza kwe-SMA yinxalenye yovavanyo olusandul 'ukuzalwa.

Luthini unyango lwe-spinal muscular atrophy (SMA)?

Akukho lunyango lwe-SMA. Unyango lunokunceda ukulawula iimpawu kunye nokukhusela iingxaki. Banokubandakanya

• Amayeza anceda umzimba ukuba wenze iiprotheyini ezininzi ezifunwa zii-motor neurons
• Unyango lwe-Gene yabantwana abangaphantsi kweminyaka emi-2 ubudala
• Ukunyanga ngokwasemzimbeni, ngokusebenza, kunye nokubuyisela kwimeko yesiqhelo ukunceda ukuphucula ukuma komzimba kunye nokuhamba kwamalungu. Olu nyango lunokuphucula ukuhamba kwegazi kunye nokucotha kwemisipha kunye neatrophy. Abanye abantu banokufuna unyango ngengxaki yokuthetha, ukuhlafuna kunye nokuginya.
• Izixhobo zokuncedisa ezifana neenkxaso okanye i-brace, i-orthotics, i-synthesizers yokuthetha, kunye nezihlalo zabakhubazekile ukunceda abantu bahlale bezimeleyo
• Isondlo esifanelekileyo kunye nokutya okunesondlo ukunceda ukugcina ubunzima kunye namandla. Abanye abantu banokufuna ityhubhu yokondla ukuze bafumane isondlo abasifunayo.
• Inkxaso yokuphefumla yabantu abanobuthathaka bemisipha entanyeni, emqaleni, nasesifubeni. Inkxaso inokubandakanya izixhobo zokunceda ngokuphefumla emini kunye nokukhusela ubuthongo bokulala ebusuku. Abanye abantu banokufuna ukubakho kumatshini wokuphefumla.

I-NIH: IZiko leLizwe leZiphazamiso ze-Neurological and Stroke