Siyini isifo se-SMA? Yiziphi izimpawu nezindlela zokwelashwa zesifo se-SMA?

I-SMA , eyaziwa nangokuthi i-Spinal Muscular Atrophy , isifo esingavamile esibangela ukulahlekelwa kwemisipha kanye nobuthakathaka. Lesi sifo, esithinta ukuhambahamba ngokuthinta izicubu eziningi emzimbeni, sinciphisa kakhulu izinga lempilo yabantu. I-SMA, ethathwa njengeyimbangela evame kakhulu yokufa kwezingane, ivame kakhulu emazweni asentshonalanga. Ezweni lethu, kuyisifo esitholakala ngofuzo esibonakala cishe enganeni eyodwa ekuzalweni kwezinkulungwane eziyisi-6 kuya kweziyi-10. I-SMA yisifo esiqhubekayo esibonakala ngokulahleka kwemisipha okuvela kuma-motor neurons abizwa ngokuthi ama-movement cells.

Siyini isifo se-SMA?

Kuyisifo esitholakala ngofuzo esidala ukulahleka kwama-spinal motor neurons, okungukuthi, amangqamuzana ezinzwa emithanjeni yomgogodla, okubangela ubuthakathaka bezinhlangothi zombili emzimbeni, ngokubandakanyeka kwemisipha esondelene, okungukuthi, eduze nendawo ephakathi komzimba, okuholela. ebuthakathakeni obuqhubekayo kanye ne-atrophy, okungukuthi, ukulahlekelwa kwemisipha. Ubuthakathaka emilenzeni bubonakala kakhulu kunasezingalweni. Njengoba isakhi sofuzo se-SMN ezigulini ze-SMA singakwazi ukukhiqiza noma yimaphi amaprotheni, amangqamuzana ezinzwa zomzimba emzimbeni awakwazi ukondliwa futhi ngenxa yalokho, imisipha yokuzithandela ayikwazi ukusebenza. I-SMA, enezinhlobo ezi-4 ezihlukene, yaziwa nangokuthi "i-loose baby syndrome" phakathi komphakathi. Ku-SMA, okuthi kwezinye izimo ngisho yenze ukudla nokuphefumula kungenzeki, ukubona nokuzwa akuthinteki yilesi sifo futhi akukho ukulahlekelwa kokuzwa. Izinga lobuhlakani bomuntu lijwayelekile noma lingaphezulu kwejwayelekile. Lesi sifo, esibonakala kanye kuzo zonke izingane ezizalwayo ezingu-6000 ezweni lakithi, sibonakala ezinganeni zabazali abanempilo kodwa abaphethe. I-SMA ingase yenzeke lapho abazali beqhubeka nempilo yabo enempilo ngaphandle kokuqaphela ukuthi bangabathwali, futhi lapho lesi sifo ezakhini zabo zofuzo sidluliselwa enganeni. Isigameko se-SMA ezinganeni zabazali abathwali singama-25%.

Yiziphi izimpawu zesifo se-SMA?

Izimpawu ze-Spinal Muscular Atrophy zingahluka kumuntu nomuntu. Uphawu oluvame kakhulu ubuthakathaka bemisipha kanye ne-atrophy. Kunezinhlobo ezine ezahlukene zalesi sifo, ezihlukaniswa ngokweminyaka esiqala ngayo kanye neminyakazo esingayenza. Nakuba ubuthakathaka obubonwa ezigulini zohlobo lwe-1 ekuhlolweni kwe-neurological kuvamile futhi kwanda, ku-type-2 kanye ne-Type-3 yeziguli ze-SMA, ubuthakathaka bubonakala ku-proximal, okungukuthi, imisipha eseduze ne-trunk. Ngokuvamile, ukundindizela kwezandla nokunyakazisa ulimi kungase kubonakale. Ngenxa yobuthakathaka, i-scoliosis, ebizwa nangokuthi i-spinal curvature, ingase yenzeke kwezinye iziguli. Izimpawu ezifanayo zingabonakala ezifweni ezihlukahlukene. Ngakho-ke, umlando wesiguli ulalelwa ngokuningiliziwe yisazi sezinzwa ze-neurologist, izikhalazo zakhe zihlolwe, i-EMG yenziwa futhi ukuhlolwa kwe-laboratory kanye ne-imaging ye-radiological isetshenziswa esigulini uma kubonakala kudingekile ngudokotela. Nge-EMG, isazi sezinzwa sikala umphumela womsebenzi kagesi ebuchosheni nasemgogodleni emisipha ezingalweni nasemilenzeni, kuyilapho ukuhlolwa kwegazi kunquma ukuthi kukhona yini ukuguqulwa kofuzo. Nakuba izimpawu ziyahlukahluka kuye ngohlobo lwesifo, ngokuvamile zibalwe ngale ndlela elandelayo:

• Imisipha ebuthaka kanye nobuthakathaka okuholela ekuntuleni ukuthuthukiswa kwemoto
• Ukuncipha kokukhalipha
• Ukundindizela ezandleni
• Ukungakwazi ukugcina ukulawula ikhanda
• Ubunzima bokudla
• Izwi eliyisihosha nokukhwehlela okubuthakathaka
• Ukuqina nokulahlekelwa ikhono lokuhamba
• Ukuwela emuva kontanga
• Ukuwa njalo
• Ubunzima bokuhlala, ukuma nokuhamba
• Ukudikiza ulimi

Yiziphi izinhlobo zezifo ze-SMA?

Kunezinhlobo ezine ezihlukene zesifo se-SMA. Lesi sigaba simele iminyaka isifo esiqala ngayo kanye nokunyakaza esingakwenza. Iminyaka yobudala lapho i-SMA ikhombisa izimpawu zayo, isifo siba bucayi kakhulu. I-Type-1 SMA, izimpawu zayo ezibonakala ezinganeni ezinezinyanga eziyisi-6 nangaphansi, yizona ezinzima kakhulu. Ku-Type-1, ukwehla kokunyakaza kwengane kungase kubonakale ezigabeni zokugcina zokukhulelwa. Izimpawu ezinkulu zeziguli ze-Type-1 SMA, ezibizwa nangokuthi izingane ze-hypotonic, ukuntuleka kokunyakaza, ukuntuleka kokulawula ikhanda kanye nezifo ezivamile zokuphefumula. Ngenxa yalezi zifo, amandla amaphaphu ezingane ayancipha futhi ngemva kwesikhashana kufanele zithole ukwesekwa kokuphefumula. Ngesikhathi esifanayo, ukunyakaza kwengalo nemilenze akubonwa ezinganeni ezingenalo amakhono ayisisekelo njengokugwinya nokumunca. Nokho, bangabheka amehlo ngokubuka kwabo okujabulisayo. I-Type-1 SMA iyimbangela evame kakhulu yokufa kwezinsana emhlabeni.

I-Type-2 SMA ibonakala ezinganeni ezineminyaka engu-6-18. Nakuba ukukhula komntwana kwakujwayelekile ngaphambi kwalesi sikhathi, izimpawu ziqala phakathi nalesi sikhathi. Nakuba iziguli zohlobo lwe-2 ezikwazi ukulawula amakhanda azo zingahlala zodwa, azikwazi ukuma noma ukuhamba ngaphandle kokusekelwa. Abaziqinisekisi ngokwabo. Ukuthuthumela ezandleni, ukungakwazi ukuthola isisindo, ubuthakathaka nokukhwehlela kungase kubonakale. Iziguli ze-Type-2 SMA, okungase kubonakale kuzo ukugoba komgogodla okubizwa ngokuthi i-scoliosis, zivame ukubhekana nezifo zepheshana lokuphefumula.

Izimpawu zeziguli ze- Type-3 SMA ziqala ngemva kwenyanga ye-18. Ezinganeni ukukhula kwazo kwakujwayelekile kuze kube yilesi sikhathi, kungase kuthathe kuze kube sebusheni ukuze kuqashelwe izimpawu ze-SMA. Nokho, ukukhula kwakhe kuhamba kancane kunontanga yakhe. Njengoba lesi sifo siqhubeka futhi kukhula ubuthakathaka bemisipha, kuhlangatshezwana nobunzima obunjengobunzima bokusukuma, ukungakwazi ukukhuphuka izitebhisi, ukuwa njalo, amajaqamba ngokuzumayo, nokungakwazi ukugijima. Iziguli ze-Type-3 SMA zingase zilahlekelwe amandla azo okuhamba eminyakeni yakamuva futhi zidinga isihlalo sabakhubazekile, futhi i-scoliosis, okungukuthi, ukugoba komgogodla, kungabonwa. Nakuba ukuphefumula kwalezi zinhlobo zeziguli kuthintekile, akushubi njengakuhlobo loku-1 nohlobo-2.

I-Type-4 SMA, eyaziwa ngokubonisa izimpawu lapho usukhulile, ayivamile kunezinye izinhlobo futhi ukuqhubeka kwesifo kuhamba kancane. Iziguli zohlobo 4 azivamile ukulahlekelwa ikhono lokuhamba, ukugwinya nokuphefumula. Ukugoba komgogodla kungabonakala ohlotsheni lwesifo lapho ubuthakathaka bungabonakala ezingalweni nasemilenzeni. Ezigulini ezingase zihambisane nokuthuthumela nokunyakazisa, imisipha eseduze ne-trunk ivame ukuthinteka. Nokho, lesi simo kancane kancane sisakazeka kuwo wonke umzimba.

Isifo se-SMA sitholwa kanjani?

Njengoba isifo se-spinal muscular atrophy sithinta ukunyakaza namangqamuzana ezinzwa, ngokuvamile kubonakala lapho ubuthakathaka bezinhlangothi zombili kanye nomkhawulo wokunyakaza kwenzeka. I-SMA yenzeka lapho abazali benquma ukuba nomntwana ngaphandle kokuqaphela ukuthi bangabathwali, futhi isakhi sofuzo esiguquliwe sidluliselwa kubazali bobabili siye enganeni. Uma kukhona ifa lofuzo komunye wabazali, isimo senkampani yenethiwekhi singenzeka ngisho noma isifo singenzeki. Ngemva kokuba abazali bebone izinto ezingavamile ekuhambeni kwezingane zabo futhi babonane nodokotela, kulinganiswa imizwa nemisipha kusetshenziswa i-EMG. Lapho kutholwa okutholakele okungajwayelekile, izakhi zofuzo ezisolisayo ziyahlolwa ngokuhlolwa kwegazi bese kutholwa i-SMA.

Selashwa kanjani isifo se-SMA?

Akukho ukwelashwa okuqondile kwesifo se-SMA okwamanje, kodwa izifundo ziyaqhubeka ngesivinini esigcwele. Kodwa-ke, izinga lempilo yesiguli lingandiswa ngokusebenzisa izindlela zokwelapha ezihlukene ukunciphisa izimpawu zesifo ngodokotela onguchwepheshe. Ukuqwashisa ngezihlobo zesiguli okutholwe ukuthi sine-SMA mayelana nokunakekelwa kudlala indima ebalulekile ekwenzeni ukunakekelwa kwasekhaya kube lula futhi kukhuphule izinga lempilo yesiguli. Njengoba iziguli ze-Type-1 kanye ne-Type-2 SMA zivame ukufa ngenxa yezifo zamaphaphu, kubaluleke kakhulu ukuhlanza imigudu yokuphefumula yesiguli uma kwenzeka kuba nokuphefumula okungajwayelekile nokungenele.

Umuthi wezifo ze-SMA

I-Nusinersen, eyathola imvume ye-FDA ngoDisemba 2016, isetshenziswa ekwelapheni izinsana nezingane. Lo muthi uhlose ukukhulisa ukukhiqizwa kwephrotheni ebizwa ngokuthi i-SMN evela kufuzo lwe-SMN2 futhi unikeze ukudla kwamaseli, ngaleyo ndlela kubambezeleke ukufa kwe-motor neuron futhi ngaleyo ndlela kunciphise izimpawu. I-Nusinersen, egunyazwe uMnyango Wezempilo ezweni lethu ngoJulayi 2017, isetshenziswe ezigulini ezingaphansi kwama-200 emhlabeni jikelele eminyakeni embalwa. Nakuba umuthi uthole imvume ye-FDA ngaphandle kokuhlukanisa phakathi kwezinhlobo ze-SMA, azikho izifundo ngeziguli zabantu abadala. Njengoba imiphumela nemiphumela engemihle yomuthi, enezindleko eziphakeme kakhulu, akwaziwa ngokugcwele, kubhekwa njengokufanelekile ukuwusebenzisa kuphela iziguli zohlobo lwe-SMA zohlobo lwe-1 kuze kucaciswe imiphumela yazo ezigulini ezikhulile ze-SMA. Ukuze ube nempilo enempilo futhi ende, ungakhohlwa ukuhlolwa kwakho okujwayelekile ngudokotela wakho onguchwepheshe.