Umqolo we-atrophy yemisipha

Spinal muscular atrophy (SMA) liqela lokuphazamiseka kwee-motor neurons (iiseli zemoto). Ezi ngxaki zidluliswa ziintsapho (ezizuzwe njengelifa) kwaye zinokubonakala nakweliphi na inqanaba lobomi. Ukuphazamiseka kukhokelela kubuthathaka bemisipha kunye ne-atrophy.

I-SMA yingqokelela yezifo ezahlukeneyo zemithambo-luvo yemoto. Ukudityaniswa ngokudibeneyo, sisizathu sesibini esikhokelela kwisifo se-neuromuscular, emva kweDuchenne muscular dystrophy.

Uninzi lwexesha, umntu kufuneka afumane uhlobo olungalunganga kubazali bobabini ukuba bachaphazeleke. Eyona fomu inzima luhlobo lwe-SMA I, ekwabizwa ngokuba sisifo seWerdnig-Hoffman. Iintsana ezine-SMA zohlobo lwe-II zineempawu ezingathandekiyo kangako ebusaneni, kodwa ziba buthathaka ekuhambeni kwexesha. Uhlobo lwe-SMA III luhlobo lwesifo esibi kakhulu.

Kwiimeko ezinqabileyo, ii-SMA ziqala ebudaleni. Olu luhlobo lwesona sifo.

Imbali yosapho ye-SMA kwilungu losapho elikufutshane (njengomntakwenu okanye udade) yinto enobungozi kuzo zonke iintlobo zokuphazamiseka.

Iimpawu ze-SMA zezi:

• Iintsana ezinohlobo lwe-SMA ndizalwa ndinethoni encinci yemisipha, izihlunu ezibuthathaka, kunye neengxaki zokondla nokuphefumla.
• Ngohlobo lwe-SMA II, iimpawu zinokungabonakali de kube ziinyanga ezi-6 ukuya kwiminyaka emi-2.
• Uhlobo lwe-III SMA sisifo esinamandla esiqala ebuntwaneni okanye ebusheni kwaye ngokuthe chu siba mandundu.
• Uhlobo lwe-IV lude luthambe, ubuthathaka buqala ebudaleni.

Rhoqo, ubuthathaka buqala buva emagxeni nasemisipha yomlenze. Ubuthathaka buba mandundu ngokuhamba kwexesha kwaye ekugqibeleni buba nzima.

Iimpawu kusana:

• Ukuphefumla ubunzima ngokuphefumla okufutshane kunye nokuphefumla kanzima, okukhokelela ekuswelekeni kweoksijini
• Ubunzima bokutya (ukutya kunokuya kumbhobho womoya endaweni yesisu)
• I-Floppy baby (ithoni yemisipha engalunganga)
• Ukungabikho kolawulo lwentloko
• Intshukumo encinci
• Ubuthathaka obuya buba mandundu

Iimpawu emntwaneni:

• Rhoqo, nangakumbi izifo ezosulelayo zokuphefumla
• Intetho yomlomo
• Ukuma komzimba kuya kusiba mandundu

Nge-SMA, imithambo-luvo elawula uvakalelo (luvo lweemvakalelo) ayichaphazeleki. Ke, umntu onesifo unokuziva izinto ngesiqhelo.

Umboneleli wezempilo uya kuthatha imbali enenkathalo kwaye enze uvavanyo lobuchopho / lwenkqubo yemithambo-luvo ukufumanisa ukuba ngaba:

• Imbali yosapho yesifo se-neuromuscular
• Iifloppy (flaccid) izihlunu
• Akukho bunjani beethenda zinzulu
• Ukujijuka kwesihlunu solwimi

Uvavanyo olunoku-odolwa lubandakanya:

• Uvavanyo lweAldolaseblood
• Izinga le-sedimentation ye-Erythrocyte (ESR)
• Yenza uvavanyo lwegazi lwe-phosphate kinase
• Uvavanyo lwe-DNA ukuqinisekisa isifo
• Umbane we-Electromyography (EMG)
• Lactate / pyruvate
• I-MRI yengqondo, umqolo, kunye nentambo yomqolo
• Imisipha biopsy
• Isifundo sokuqhutywa kwemithambo
• Uvavanyo lwegazi lwe-Amino acid
  
• Uvavanyo lwegazi lwe-thyroid-stimulating hormone (TSH)

Akukho lunyango ukunyanga ubuthathaka obubangelwa sesi sifo. Unonophelo oluxhasayo lubalulekile. Iingxaki zokuphefumla ziqhelekileyo kwiifom ezibi kakhulu ze-SMA. Ukunceda ngokuphefumla, isixhobo okanye umatshini obizwa ngokuba sisixhobo sokuphefumla unokufuneka.

Abantu abane-SMA nabo kufuneka bajongwe ngokukrwitshwa. Kungenxa yokuba izihlunu ezilawula ukugwinya zibuthathaka.

Unyango ngokwasemzimbeni lubalulekile ekuthinteleni izihlunu kunye nokuqina kwemisipha (scoliosis). Ukuqiniswa kungafuneka. Utyando lunokufuneka ukulungisa ukubola kwamathambo, njenge-scoliosis.

Unyango ezimbini ezisandula ukwamkelwa ze-SMA areonasemnogene abeparvovec-xioi (Zolgensma) kunye nusinersen (Spinraza) La mayeza asetyenziselwa ukunyanga iintlobo ezithile ze-SMA. Thetha nomboneleli wakho wezempilo ukuze ubone ukuba ngaba la mayeza afanelekileyo kuwe okanye kumntwana wakho.

Abantwana abanohlobo lwe-SMA andifane ndiphile ixesha elingaphezu kweminyaka emi-2 ukuya kwemi-3 ngenxa yeengxaki zokuphefumla kunye nosulelo. Ixesha lokusinda ngohlobo II lide, kodwa esi sifo sibulala uninzi lwabo bachaphazelekayo besengabantwana.

Abantwana abanesifo sohlobo III banokuphila babe ngabantu abadala. Kodwa, abantu bazo zonke iintlobo zesifo banobuthathaka kunye nokuphelelwa ngamandla okuba mandundu ngokuhamba kwexesha. Abantu abadala abaphuhlisa ii-SMA bahlala bephila ixesha eliqhelekileyo.

Iingxaki ezinokubangelwa yi-SMA zibandakanya:

• Ukuphefumla (ukutya kunye namanzi angena emiphungeni, kubangele inyumoniya)
• Ukuthintelwa kwezihlunu kunye neetoni
• Ukumelwa yintliziyo
• Scoliosis

Fowunela umboneleli wakho ukuba umntwana wakho:

• Kubonakala buthathaka
• Ukuphuhlisa naziphi na ezinye iimpawu ze-SMA
• Unobunzima bokutya

Ubunzima bokuphefumla bunokuba yimeko engxamisekileyo ngokukhawuleza.

Ukucebisa ngemfuza kuyacetyiswa kubantu abanembali yosapho ye-SMA abafuna ukuba nabantwana.

Isifo seWerdnig-Hoffmann; Isifo se-Kugelberg-Welander

• Imisipha yangaphandle yangaphandle
• Scoliosis

UFearon C, uMurray B, uMitsumoto H.Ukuphazamiseka kwee-motor neurons ezisezantsi nezisezantsi. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ii-eds. I-Neurology kaBradley kwiKlinikhi yokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; Ngo-2016: isahluko 98.

IHaliloglu G. Spinal muscular atrophies. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; I-2020: isahluko 630.2.

Indawo yeReferensi yasekhaya ye-NIH yemfuzo. Umqolo we-atrophy yemisipha. ghr.nlm.nih.gov/condition/spinal-muscular-atrophy. Ukuhlaziywa kwe-Okthobha 15, 2019. Ifikeleleke ngoNovemba 5, 2019.