Umgogodla wokuqina kwemisipha

I-Spinal muscular atrophy (SMA) yiqembu lokuphazamiseka kwama-motor neurons (amaseli wemoto). Lezi zinkinga zidluliselwa emindenini (ezuzwe njengefa) futhi zingavela kunoma yisiphi isigaba sempilo. Lesi sifo siholela ekubeni buthakathaka kwemisipha kanye ne-atrophy.

I-SMA iqoqo lezifo ezahlukahlukene zezinzwa zemoto. Ihlanganiswe ndawonye, ​​iyimbangela yesibili ehamba phambili yesifo sofuzo se-neuromuscular, ngemuva kweDuchenne muscular dystrophy.

Isikhathi esiningi, umuntu kufanele athole isakhi sofuzo esingalungile kubo bobabili abazali ukuze sithinteke. Ifomu elibi kakhulu yi-SMA yohlobo I, olubizwa nangokuthi isifo seWerdnig-Hoffman. Izinsana ezine-SMA type II zinezimpawu ezingezinhle ngesikhathi zisencane, kepha ziba buthakathaka ngokuhamba kwesikhathi. Uhlobo lwe-SMA III uhlobo olubi kakhulu lwesifo.

Ezimweni ezingavamile, i-SMA iqala lapho isikhulile. Lona uhlobo olumnene kunalesi sifo.

Umlando womndeni we-SMA elungwini lomndeni eliseduze (njengomfowenu noma udadewethu) uyingcuphe yazo zonke izinhlobo zesifo.

Izimpawu ze-SMA yilezi:

• Izinsana ezinohlobo lwe-SMA ngizalwa nginethoni yemisipha emincane kakhulu, imisipha ebuthakathaka, nezinkinga zokondla nokuphefumula.
• Ngohlobo lwe-SMA II, izimpawu zingahle zivele kuze kube izinyanga eziyisithupha kuya eminyakeni emibili.
• Uhlobo lwe-III SMA yisifo esibi esiqala ebuntwaneni noma ebusheni futhi kancane kancane siba sibi kakhulu.
• Uhlobo lwe-IV luthambile kakhulu, ubuthakathaka buqala ebudaleni.

Imvamisa, ubuthakathaka buqala ukuzwakala emahlombe nasemilenzeni yemilenze. Ubuthakathaka buya bubi ngokuhamba kwesikhathi futhi ekugcineni buba bukhulu.

Izimpawu enganeni:

• Ubunzima bokuphefumula ngokuphefumula okuncane nokuphefumula kanzima, okuholela ekushodeni komoya-mpilo
• Ubunzima bokudla (ukudla kungangena ku-windpipe esikhundleni sesisu)
• I-Floppy baby (ithoni yemisipha engesihle)
• Ukuntuleka kokulawulwa kwekhanda
• Ukunyakaza okuncane
• Ubuthakathaka obudlulela phambili

Izimpawu enganeni:

• Njalo, izifo zokuphefumula eziba nzima kakhulu
• Inkulumo emakhaleni
• Ukuma okuba kubi kakhulu

Nge-SMA, izinzwa ezilawula ukuzwa (izinzwa zezinzwa) azithinteki. Ngakho-ke, umuntu onesifo angazizwa izinto ngokujwayelekile.

Umhlinzeki wezokunakekelwa kwempilo uzothatha umlando oqaphile futhi enze ukuhlolwa kobuchopho / kwemizwa (neurologic) ukuthola ukuthi ngabe kukhona yini:

• Umlando womndeni wesifo se-neuromuscular
• Imisipha ye-Floppy (flaccid)
• Azikho izingqondo zethenda ezijulile
• Ukudikiza kwemisipha yolimi

Izivivinyo ezinga-odwa zifaka:

• Ukuhlolwa kwe-Aldolaseblood
• Izinga le-sedimentation ye-Erythrocyte (ESR)
• Dala ukuhlolwa kwegazi kwe-phosphate kinase
• Ukuhlolwa kwe-DNA ukuqinisekisa ukuxilongwa
• I-Electromyography (EMG)
• Lactate / pyruvate
• I-MRI yobuchopho, umgogodla, nentambo yomgogodla
• Imisipha biopsy
• Isifundo sokuqhuba imizwa
• Ukuhlolwa kwegazi le-Amino acid
  
• Ukuhlolwa kwegazi okuvuselela i-thyroid (TSH)

Akukho muthi wokwelapha ubuthakathaka obubangelwa yilesi sifo. Ukunakekelwa kokusekelwa kubalulekile. Izinkinga zokuphefumula zivame ngezindlela ezinzima kakhulu ze-SMA. Ukusiza ngokuphefumula, kungadingeka umshini noma umshini obizwa ngokuthi i-ventilator.

Abantu abane-SMA nabo badinga ukubhekelwa ukuminyaniswa. Lokhu kungenxa yokuthi imisipha elawula ukugwinya ibuthakathaka.

Ukwelashwa ngokomzimba kubalulekile ukuvimbela ukuncipha kwemisipha namathambo kanye nokugobeka okungavamile komgogodla (scoliosis). Ukubopha kungadingeka. Ukuhlinzwa kungadingeka ukulungisa ukulungisa ukukhubazeka kwamathambo, njenge-scoliosis.

Imithi emibili esanda kuvunywa ye-SMA areonasemnogene abeparvovec-xioi (Zolgensma) ne-nusinersen (Spinraza) .Le mithi isetshenziselwa ukwelapha izinhlobo ezithile ze-SMA. Khuluma nomhlinzeki wakho wezempilo ukuze ubone ukuthi ngabe iyiphi yale mithi ilungele wena noma ingane yakho.

Izingane ezinohlobo lwe-SMA angivamile ukuhlala isikhathi eside kuneminyaka emi-2 kuya kwengu-3 ngenxa yezinkinga zokuphefumula nezifo. Isikhathi sokusinda ngohlobo II siside, kepha lesi sifo sibulala iningi lalabo abathintekayo beseseyizingane.

Izingane ezinesifo sohlobo III zingaphila zisencane. Kepha, abantu abanezinhlobo zonke zalesi sifo banobuthakathaka nokuba buthakathaka okuya ngokuya kuba kubi ngokuhamba kwesikhathi. Abantu abadala abahlakulela i-SMA bavame ukuba nempilo ejwayelekile.

Izinkinga ezingavela ku-SMA zifaka:

• Ukuphefumula (ukudla noketshezi kungena emaphashini, kubangele inyumoniya)
• Ukuhlukaniswa kwemisipha namathenda
• Ukwehluleka kwenhliziyo
• I-Scoliosis

Shayela umhlinzeki wakho uma ingane yakho:

• Kubonakala buthakathaka
• Kuthuthukisa noma yiziphi ezinye izimpawu ze-SMA
• Unenkinga yokondla

Ubunzima bokuphefumula bungaba isimo esiphuthumayo ngokushesha.

Ukwelulekwa ngofuzo kunconyelwa abantu abanomlando womndeni weSMA abafuna ukuba nezingane.

Isifo seWerdnig-Hoffmann; Isifo se-Kugelberg-Welander

• Imisipha yangaphandle engaphezulu
• I-Scoliosis

UFearon C, uMurray B, uMitsumoto H. Ukuphazamiseka kwama-motor neurons aphezulu nangaphansi. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 98.

I-Haliloglu G. Spinal atrophies yemisipha. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 630.2.

Iwebhusayithi ye-NIH Genetics Reference. Umgogodla wokuqina kwemisipha. ghr.nlm.nih.gov/condition/spinal-muscular-atrophy. Kubuyekezwe u-Okthoba 15, 2019. Kufinyelelwe ngoNovemba 5, 2019.