Umgogodla weMisipha Atrophy

-Delile

• Isifinyezo
• Kuyini umgogodla wemisipha i-atrophy (SMA)?
• Yiziphi izinhlobo ze-spinal muscular atrophy (SMA) futhi ziyini izimpawu zazo?
• Yini ebangela i-spinal muscular atrophy (SMA)?
• Kutholakala kanjani ukuthi i-spinal muscular atrophy (SMA)?
• Yikuphi ukwelashwa kwe-spinal muscular atrophy (SMA)?

Isifinyezo

Kuyini umgogodla wemisipha i-atrophy (SMA)?

I-Spinal muscular atrophy (SMA) yiqembu lezifo zofuzo ezilimaza futhi zibulale ama-motor neurons. Ama-motor neurons ayihlobo leseli lezinzwa emgogodleni nasengxenyeni engezansi yobuchopho. Zilawula ukunyakaza ezingalweni zakho, emilenzeni, ebusweni, esifubeni, emphinjeni nasolimini.

Njengoba ama-motor neurons afa, imisipha yakho iqala ukuba buthakathaka kanye ne-atrophy (imosheke kude). Ukulimala kwemisipha kuya kuba kubi ngokuhamba kwesikhathi futhi kungathinta ukukhuluma, ukuhamba, ukugwinya nokuphefumula.

Yiziphi izinhlobo ze-spinal muscular atrophy (SMA) futhi ziyini izimpawu zazo?

Kunezinhlobo ezahlukahlukene ze-SMA. Kususelwa ekutheni isifo sibucayi kangakanani nokuthi izimpawu ziqala nini:

• Thayipha l sibizwa nangokuthi isifo seWerdnig-Hoffman noma i-SMA. Luhlobo olunzima kakhulu. Kubuye kube okuvame kakhulu. Izingane ezinalolu hlobo zivame ukukhombisa izimpawu zalesi sifo ngaphambi kwezinyanga eziyisithupha ubudala. Ezimweni ezinzima kakhulu, izimpawu ziyavela ngisho nangaphambi noma ngemuva nje kokuzalwa (Izinhlobo 0 noma 1A). Izingane zingaba nenkinga yokugwinya nokuphefumula futhi kungenzeka zinganyakazi kakhulu. Banokuncishiswa okungapheli kwemisipha noma imisipha (ebizwa ngokuthi izivumelwano). Imvamisa abakwazi ukuhlala ngaphandle kosizo. Ngaphandle kokwelashwa, izingane eziningi ezinalolu hlobo zizofa zingakabi neminyaka emibili ubudala.
• Thayipha ll uhlobo olulinganiselayo nolunzima lwe-SMA. Imvamisa yayiqala ukubona phakathi kwezinyanga eziyisithupha kuya kwezingu-18 ubudala. Iningi lezingane ezinalolu hlobo zingahlala ngaphandle kosizo kepha azikwazi ukuma noma ukuhamba ngaphandle kosizo. Bangaba nenkinga yokuphefumula. Imvamisa bangaphila ebusheni noma ebudaleni obusha.
• Thayipha lll sibizwa nangokuthi isifo saseKugelberg-Welander. Luhlobo lomnene oluthinta izingane. Izimpawu zalesi sifo zivame ukuvela ngemuva kwezinyanga eziyi-18. Izingane ezinalolu hlobo zingazihambela zodwa kepha zingaba nenkinga yokugijima, ukuvuka esihlalweni, noma ukukhuphuka izitebhisi. Bangase babe ne-scoliosis (ukugobeka komgogodla), izinkontileka, kanye nezifo zokuphefumula.Ngokwelashwa, izingane eziningi ezinalolu hlobo zizoba nempilo ejwayelekile.
• Uhlobo IV kuyivelakancane futhi kuvame ukuba mnene. Imvamisa kudala izimpawu ngemuva kweminyaka engama-21. Izimpawu zifaka ukubuthakathaka kwemisipha emlenzeni ophakathi nendawo kuya kokulingene, ukuthuthumela, nezinkinga zokuphefumula okuncane. Izimpawu ziya ngokuya ziba zimbi ngokuhamba kwesikhathi. Abantu abanalolu hlobo lwe-SMA banempilo ejwayelekile.

Yini ebangela i-spinal muscular atrophy (SMA)?

Izinhlobo eziningi ze-SMA zibangelwa ushintsho kuhlobo lwe-SMN1. Lesi sakhi sinomthwalo wokwenza iprotheni edingwa ama-motor neurons ukuba abe nempilo futhi asebenze. Kepha uma ingxenye yesakhi sofuzo se-SMN1 ilahlekile noma ingajwayelekile, awekho amaprotheni anele ama-motor neurons. Lokhu kubangela ukuthi ama-motor neurons afe.

Iningi labantu linamakhophi amabili ohlobo lweSM1 - elilodwa livela kumzali ngamunye. I-SMA imane yenzeke kuphela lapho womabili amakhophi eshintsha izakhi zofuzo. Uma ngabe ikhophi elilodwa kuphela elinoshintsho, imvamisa azikho izimpawu. Kepha lolo lwazi lungadluliselwa lusuke kumzali luye enganeni.

Ezinye zezinhlobo ezingavamile kakhulu ze-SMA zingabangelwa izinguquko kwezinye izakhi zofuzo.

Kutholakala kanjani ukuthi i-spinal muscular atrophy (SMA)?

Umhlinzeki wakho wezokunakekelwa kwempilo angasebenzisa amathuluzi amaningi ukuthola i-SMA:

• Ukuhlolwa ngokomzimba
• Umlando wezokwelapha, ofaka nokubuza ngomlando womndeni
• Ukuhlolwa kofuzo ukuhlola izinguquko zofuzo ezibangela i-SMA
• Izifundo ze-Electromyography kanye ne-conduction conduction kanye ne-biopsy yemisipha kungenziwa, ikakhulukazi uma kungatholakali zinguquko zofuzo

Abazali abanomlando womndeni we-SMA bangafuna ukwenza ukuhlolwa kokubeletha ukuze babheke ukuthi ngabe ingane yabo inoshintsho lwezakhi zofuzo lwe-SMN1. I-amniocentesis noma kwezinye izimo isampuli ye-chorionic villi (CVS) isetshenziselwa ukuthola isampula lokuhlolwa.

Kwamanye amazwe, ukuhlolwa kofuzo kwe-SMA kuyingxenye yokuhlolwa kokuzalwa kwezingane ezisanda kuzalwa.

Yikuphi ukwelashwa kwe-spinal muscular atrophy (SMA)?

Alikho ikhambi le-SMA. Ukwelashwa kungasiza ukuphatha izimpawu nokuvikela izinkinga. Zingafaka

• Imithi esiza umzimba ukuthi yenze amaprotheni amaningi adingwa ama-motor neurons
• Ukwelashwa kwezakhi zofuzo ezinganeni ezineminyaka engaphansi kwemibili ubudala
• Ukwelashwa ngokomzimba, ukusebenza, kanye nokuvuselelwa ukusiza ukuthuthukisa ukuma nokuhamba kwamalunga. Lezi zindlela zokwelapha zingaphinde zithuthukise ukugeleza kwegazi kanye nobuthakathaka bemisipha obuhamba kancane kanye ne-atrophy. Abanye abantu bangadinga nokwelashwa ngenkinga yokukhuluma, ukuhlafuna nokugwinya.
• Izinsiza ezisiza njengabasekeli noma izinsimbi zokubopha, ama-orthotic, izinto zokuhlanganisa izinkulumo, nezihlalo zabakhubazekile ukusiza abantu ukuthi bahlale bezimele
• Ukudla okunomsoco nokudla okulinganiselayo ukusiza ukugcina isisindo namandla. Abanye abantu bangadinga ithubhu yokudla ukuze bathole umsoco abawudingayo.
• Ukwesekwa kokuphefumula kwabantu abanobuthakathaka bemisipha entanyeni, emphinjeni nasesifubeni. Ukusekelwa kungafaka amadivayisi okusiza ngokuphefumula emini nokuvimbela ukuphefumula kokulala ebusuku. Abanye abantu bangadinga ukuba semshinini wokuphefumula.

I-NIH: Isikhungo Sikazwelonke Sokukhubazeka Kwezinzwa NeStroke