Yintoni isifo se-SMA? Ziziphi iimpawu kunye neendlela zonyango zesifo se-SMA?

I-SMA , eyaziwa ngokuba yi-Spinal Muscular Atrophy , sisifo esinqabileyo esibangela ukulahleka kwemisipha kunye nobuthathaka. Esi sifo, esichaphazela ukuhamba ngokuchaphazela izihlunu ezininzi emzimbeni, sinciphisa kakhulu umgangatho wobomi babantu. I-SMA, ethathwa njengoyena nobangela uxhaphakileyo wokufa kwiintsana, ixhaphake kakhulu kumazwe asentshona. Kwilizwe lethu, sisifo sofuzo esibonwa malunga nosana olunye kwi-6 lamawaka ukuya kwi-10 lamawaka lokuzalwa. I-SMA sisifo esiqhubela phambili esibonakaliswa kukulahleka kwezihlunu, esisuka kwii-motor neurons ezibizwa ngokuba ziiseli zentshukumo.

Yintoni isifo se-SMA?

Sisifo sofuzo esibangela ukulahleka kwe-spinal motor neurons, oko kukuthi, iiseli zemithambo-luvo kwintambo yomqolo, ebangela ubuthathaka bamacala amabini emzimbeni, ngokubandakanyeka kwezihlunu ezisondeleleneyo, oko kukuthi, kufutshane nombindi womzimba, okukhokelela kubuthathaka obuqhubekayo kunye ne-atrophy kwimisipha, oko kukuthi, ukulahleka kwemisipha. Ubuthathaka emilenzeni bubonakala ngakumbi kuneengalo. Ekubeni i-SMN gene kwizigulane ze-SMA ayikwazi ukuvelisa nayiphi na iprotheni, iiseli ze-nerve ze-motor emzimbeni azikwazi ukutyiswa kwaye ngenxa yoko, imisipha yokuzithandela ayikwazi ukusebenza. I-SMA, eneentlobo ezi-4 ezahlukeneyo, yaziwa nangokuthi "i-loose baby syndrome" phakathi koluntu. Kwi-SMA, kwezinye iimeko nokuba ukutya kunye nokuphefumla akunakwenzeka, umbono kunye nokuva akuchatshazelwa sesi sifo kwaye akukho kulahlekelwa yimvakalelo. Inqanaba lobukrelekrele bomntu liqhelekileyo okanye lingaphezulu kwesiqhelo. Esi sifo, esibonwa kanye kwi-6000 yokuzalwa kwilizwe lethu, sibonwa kubantwana babazali abanempilo kodwa abaphetheyo. I-SMA inokuthi yenzeke xa le ngxaki kwimizila yabo idluliselwa kumntwana ngelixa abazali beqhubeka nobomi babo obunempilo ngaphandle kokuqaphela ukuba bangabathwali. Iziganeko ze-SMA kubantwana babazali abathwala i-25%.

Ziziphi iimpawu zesifo se-SMA?

Iimpawu ze-Spinal Muscular Atrophy zinokuhluka kumntu nomntu. Uphawu oluqhelekileyo lubuthathaka bemisipha kunye ne-atrophy. Kukho iintlobo ezine ezahlukeneyo zesi sifo, ezihlelwa ngokobudala bokuqala kunye neentshukumo esinokuzenza. Nangona ubuthathaka obubonwa kwizigulane zohlobo lwe-1 ekuhlolweni kwe-neurological ngokuqhelekileyo kwaye zixhaphake, kwi-type-2 kunye ne-type-3 yezigulane ze-SMA, ubuthathaka bubonwa kwi-proximal, oko kukuthi, izihlunu ezikufutshane ne-trunk. Ngokuqhelekileyo, ukungcangcazela kwezandla kunye nokushukuma kolwimi kunokubonwa. Ngenxa yobuthathaka, i-scoliosis, ebizwa ngokuba yi-spinal curvature, ingenzeka kwezinye izigulane. Iimpawu ezifanayo zinokubonwa kwizifo ezahlukeneyo. Ngoko ke, imbali yesigulane iphulaphulwa ngokweenkcukacha yingcali ye-neurologist, izikhalazo zakhe zihlolwe, i-EMG yenziwa kwaye iimvavanyo zebhubhoratri kunye ne-radiological imaging isetyenziswe kwisigulane xa kubonakala kuyimfuneko ngugqirha. Nge-EMG, i-neurologist ilinganisa umphumo womsebenzi wombane kwingqondo kunye nentambo yomgogodla kwizihlunu ezingalweni nasemilenzeni, ngelixa uvavanyo lwegazi lubonisa ukuba kukho ukuguqulwa kofuzo. Nangona iimpawu zihluka ngokuxhomekeke kuhlobo lwesifo, zidweliswe ngokubanzi ngolu hlobo lulandelayo:

• Izihlunu ezibuthathaka kunye nobuthathaka obukhokelela ekungabikho kokuphuhliswa kwemoto
• Ukuncipha kwengqondo
• Iinyikima ezandleni
• Ukungakwazi ukugcina ulawulo lwentloko
• Ubunzima bokutyisa
• Ilizwi elirhabaxa kunye nokukhohlela okubuthathaka
• Ukukrala kunye nokulahlekelwa amandla okuhamba
• Ukuwela emva koontanga
• Ukuwa rhoqo
• Ubunzima bokuhlala, ukuma nokuhamba
• Ukuxhuzula ulwimi

Ziziphi iintlobo zesifo se-SMA?

Kukho iintlobo ezine ezahlukeneyo zesifo se-SMA. Olu luhlu lubonisa iminyaka apho isifo siqala khona kunye neentshukumo esinokuzenza. Iminyaka yobudala apho i-SMA ibonisa iimpawu zayo, isifo sinzima ngakumbi. I-Type-1 SMA, eneempawu zayo ezibonwa kwiintsana ezineminyaka eyi-6 nangaphantsi, yeyona inzima kakhulu. Kwi-type-1, ukucotha kweentshukumo zomntwana kunokubonwa kwinqanaba lokugqibela lokukhulelwa. Iimpawu ezinkulu zezigulane ze-SMA zohlobo lwe-1, ezikwabizwa ngokuba ziintsana ze-hypotonic, ukungabikho kokunyakaza, ukungabikho kolawulo lwentloko kunye nokusuleleka rhoqo kweendlela zokuphefumula. Ngenxa yolu sulelo, umthamo wemiphunga weentsana uyehla kwaye emva kwethuba kufuneka bafumane inkxaso yokuphefumla. Ngexesha elifanayo, ukunyakaza kwengalo kunye nomlenze akubonwa kwiintsana ezingenazo izakhono ezisisiseko ezifana nokugwinya nokunya. Nangona kunjalo, banokujongana ngamehlo ngokujonga kwabo okunomdla. I-Type-1 SMA ngoyena nobangela uxhaphakileyo wokufa kweentsana ehlabathini.

Uhlobo lwe-2 SMA lubonwa kwiintsana ezineminyaka eyi-6-18. Nangona ukukhula komntwana kwakuqhelekileyo ngaphambi kweli xesha, iimpawu ziqala ngeli xesha. Nangona uhlobo lwe-2 izigulane ezikwazi ukulawula iintloko zabo zinokuhlala zodwa, azikwazi ukuma okanye ukuhamba ngaphandle kwenkxaso. Azingqinisisi ngokwazo. Ukuthuthumela kwizandla, ukungakwazi ukufumana ubunzima, ubuthathaka kunye nokukhwehlela kunokubonwa. Izigulana ze-Type-2 ze-SMA, apho i-spinal cord curvature ebizwa ngokuba yi-scoliosis nayo inokubonwa, zihlala zifumana usulelo lwendlela yokuphefumla.

Iimpawu ze -3 yezigulane ze-SMA ziqala emva kwenyanga ye-18. Kwiintsana uphuhliso lwabo lwaluqhelekile kude kube leli xesha, kungathatha de kube bulutsha ukuba iimpawu ze-SMA ziqatshelwe. Nangona kunjalo, ukukhula kwakhe kuhamba kancinci kunoontanga bakhe. Njengoko isifo siqhubela phambili kwaye ubuthathaka bemisipha bukhula, ubunzima obunjengobunzima bokuma, ukungakwazi ukunyuka izinyuko, ukuwa rhoqo, ukuqaqanjelwa ngequbuliso, kunye nokungakwazi ukubaleka. Izigulane ze-Type-3 ze-SMA zingakwazi ukukwazi ukuhamba kwiminyaka yamva kwaye zingadinga isitulo esinamavili, kunye ne-scoliosis, oko kukuthi, i-spinal curvatures, inokubonwa. Nangona ukuphefumla kwezi ntlobo zezigulana kuchaphazeleka, akubi kakhulu njengohlobo-1 kunye nohlobo-2.

I-Type-4 SMA, eyaziwayo ngokubonisa iimpawu ebudaleni, ayiqhelekanga kunezinye iintlobo kwaye ukuqhubela phambili kwesifo kuhamba kancinci. Izigulana zodidi lwe-4 azifane ziphulukane namandla okuhamba, ukuginya nokuphefumla. I-Spinal cord curvature ingabonwa kuhlobo lwesifo apho ubuthathaka bubonakala kwiingalo nasemilenzeni. Kwizigulane ezinokuhamba kunye nokungcangcazela kunye nokuxubha, izihlunu ezikufutshane ne-trunk zidla ngokuchaphazeleka. Nangona kunjalo, le meko ngokuthe ngcembe isasazeka kuwo wonke umzimba.

Sifunyaniswa njani isifo se-SMA?

Ekubeni isifo se-spinal muscular muscular atrophy sichaphazela ukunyakaza kunye neeseli ze-nerve, ngokuqhelekileyo kuqatshelwa xa ubuthathaka obubini kunye nokunciphisa ukuhamba kwenzeka. I-SMA yenzeka xa abazali bethatha isigqibo sokuba nomntwana ngaphandle kokuqaphela ukuba bangabathwali, kwaye i-gene eguqulweyo idluliselwa kubazali bobabini ukuya kumntwana. Ukuba kukho ilifa lofuzo komnye wabazali, isimo somthwali sinokuvela nangona isifo singenzeki. Emva kokuba abazali beqaphele izinto ezingaqhelekanga kwiintshukumo zeentsana zabo kwaye badibane nogqirha, imilinganiselo yemithambo-luvo kunye nezihlunu zenziwa kusetyenziswa i-EMG. Xa kufunyaniswe iziphumo ezingaqhelekanga, imizila yemfuza ekrokrisayo ivavanywa ngovavanyo lwegazi kwaye kufunyaniswe i-SMA.

Sinyangwa njani isifo se-SMA?

Akukho nyango luqinisekileyo lwesifo se-SMA okwangoku, kodwa izifundo ziyaqhubeka ngesantya esipheleleyo. Nangona kunjalo, umgangatho wobomi besigulane unokunyuswa ngokusebenzisa unyango oluhlukeneyo ukunciphisa iimpawu zesifo ngugqirha oyingcali. Ukuphakamisa ulwazi lwezalamane zesigulana esifunyaniswe sine-SMA malunga nokhathalelo ludlala indima ebalulekileyo ekuququzeleleni ukhathalelo lwasekhaya kunye nokunyusa umgangatho wobomi besigulana. Kuba uhlobo loku-1 kunye nohlobo lwesi-2 izigulana ze-SMA zihlala zisweleka ngenxa yosulelo lwemiphunga, kubaluleke kakhulu ukucoca iindlela zomoya zesigulana kwimeko yokuphefumla okungaqhelekanga kunye nokungonelanga.

Amayeza esifo se-SMA

I-Nusinersen, efumene imvume ye-FDA ngoDisemba 2016, isetyenziselwa unyango lweintsana kunye nabantwana. Eli chiza lijolise ekunyuseni imveliso yeprotheyini ebizwa ngokuba yi-SMN kwi-gene ye-SMN2 kwaye ibonelele ngesondlo seseli, ngaloo ndlela ilibazisa ukufa kwe-motor neuron kwaye ngaloo ndlela ukunciphisa iimpawu. I-Nusinersen, eyavunywa nguMphathiswa wezeMpilo kwilizwe lethu ngoJulayi 2017, isetyenziswe kwizigulane ezingaphantsi kwama-200 emhlabeni jikelele kwiminyaka embalwa. Nangona ichiza lifumene imvume ye-FDA ngaphandle kokwahlula phakathi kweentlobo ze-SMA, akukho zifundo kwizigulane zabantu abadala. Ekubeni imiphumo kunye nemiphumo emibi yeziyobisi, eneendleko eziphezulu kakhulu, ayaziwa ngokupheleleyo, kuthathwa njengento efanelekileyo ukuyisebenzisa kuphela kwizigulane ze-SMA zohlobo lwe-1 kude kube nemiphumo yayo kwizigulane ze-SMA zabantu abadala zicaciswe. Ukuphila ubomi obunempilo nobude, ungalibali ukuxilongwa kwesiqhelo ngugqirha wakho oyingcali.