Ukudiliza Izinhlobo Ezihlukile Ze-Spinal Muscular Atrophy

-Delile

• Yini ebangela i-SMA?
• Thayipha i-1 SMA
• Lapho izimpawu ziqala
• Izimpawu
• Umbono
• Thayipha i-2 SMA
• Lapho izimpawu ziqala
• Izimpawu
• Umbono
• Thayipha i-3 SMA
• Lapho izimpawu ziqala
• Izimpawu
• Umbono
• Thayipha i-4 SMA
• Lapho izimpawu ziqala
• Izimpawu
• Umbono
• Izinhlobo ezijwayelekile ze-SMA
• Ukuthatha

I-Spinal muscular atrophy (SMA) yisimo sezakhi zofuzo esithinta umuntu oyedwa kwabangu-6,000 kuya kwabangu-10 000. Konakalisa ikhono lomuntu lokulawula ukunyakaza kwabo kwemisipha. Yize wonke umuntu one-SMA enokushintshwa kwezakhi zofuzo, ukuqala, izimpawu, nokuqhubekela phambili kwalesi sifo kuyehluka kakhulu.

Ngalesi sizathu, i-SMA ivame ukwehlukaniswa ibe izinhlobo ezine. Ezinye izinhlobo ezingavamile ze-SMA zibangelwa ukuguqulwa kwezakhi zofuzo ezahlukene.

Funda ukuze ufunde ngezinhlobo ezahlukahlukene ze-SMA.

Yini ebangela i-SMA?

Zonke izinhlobo ezine ze-SMA zibangelwa ukuntuleka kweprotheni ebizwa nge-SMN, emele “ukusinda kwe-motor neuron.” Ama-motor neurons amangqamuzana emizwa emgogodleni aphethwe ukuthumela amasignali emisipheni yethu.

Lapho ukuguquka (iphutha) kwenzeka kuwo womabili amakhophi we I-SMN1 geni (elilodwa kumakhophi akho amabili we-chromosome 5), liholela ekushodeni kweprotheni le-SMN. Uma kukhiqizwa amaprotheni amancane noma cha, kuholela ezinkingeni zokusebenza kwemoto.

Izakhi zofuzo zalo makhelwane I-SMN1, kubizwe I-SMN2 izakhi zofuzo, ziyefana ngesakhiwo I-SMN1 izakhi zofuzo. Ngezinye izikhathi zingasiza ukuqeda ukuntuleka kwamaprotheni we-SMN, kepha inani le- I-SMN2 Izakhi zofuzo ziyahlukahluka zisuka kumuntu ziye komunye. Ngakho-ke uhlobo lwe-SMA luxhomeke ekutheni mangaki I-SMN2 Izakhi zofuzo umuntu okufanele asize ukuzenzela ezakhe I-SMN1 ukuguquka kwezakhi zofuzo. Uma umuntu one-chromosome 5-ehlobene ne-SMA enamakhophi amaningi we I-SMN2 zofuzo, zingakhiqiza amaprotheni amaningi asebenzayo e-SMN. Ngokuphindaphindiwe, ama-SMA abo azoba mandla ngokuqala kwesikhathi kunomuntu onamakhophi ambalwa we- I-SMN2 isakhi sofuzo.

Thayipha i-1 SMA

Uhlobo lwe-1 SMA lubizwa nangokuthi isifo se-infantile-qala SMA noma isifo seWerdnig-Hoffmann. Imvamisa, lolu hlobo lubangelwa ukuba namakhophi amabili kuphela we I-SMN2 ufuzo, eyodwa kwi-chromosome ngayinye 5. Okungaphezu kwesigamu kokutholakala okusha kwe-SMA kunguhlobo 1.

Lapho izimpawu ziqala

Izingane ezinohlobo lwe-1 SMA ziqala ukukhombisa izimpawu ezinyangeni eziyisithupha zokuqala ngemuva kokuzalwa.

Izimpawu

Izimpawu zohlobo 1 SMA zifaka:

• izingalo nemilenze ebuthakathaka, i-floppy nemilenze (hypotonia)
• ukukhala okubuthakathaka
• izinkinga zokuhamba, ukugwinya, nokuphefumula
• ukungakwazi ukuphakamisa ikhanda noma ukuhlala ngaphandle kokuxhaswa

Umbono

Izingane ezinohlobo lwe-1 SMA zazivame ukungaphili isikhathi esingaphezu kweminyaka emibili. Kepha ngobuchwepheshe obusha nentuthuko yanamuhla, izingane ezinohlobo lwe-1 SMA zingaphila iminyaka ethile.

Thayipha i-2 SMA

Uhlobo lwe-2 SMA lubizwa nangokuthi i-SMA ephakathi. Ngokuvamile, abantu abane-2 SMA banezinhlobo okungenani ezintathu I-SMN2 izakhi zofuzo.

Lapho izimpawu ziqala

Izimpawu zohlobo 2 SMA zivame ukuqala lapho ingane iphakathi kwezinyanga eziyi-7 nezingu-18 ubudala.

Izimpawu

Izimpawu zohlobo lwe-2 SMA zivame ukuba nzima kakhulu kunohlobo 1. Zifaka:

• ukungakwazi ukuzimela
• izingalo nemilenze ebuthakathaka
• ukuthuthumela eminweni nasezandleni
• i-scoliosis (umgogodla ogobile)
• imisipha yokuphefumula ebuthakathaka
• ubunzima bokukhwehlela

Umbono

Uhlobo lwe-2 SMA lunganciphisa isikhathi sokuphila, kepha abantu abaningi abane-2 SMA yohlobo basinda babe ngabantu abadala futhi baphila impilo ende. Abantu abane-type 2 SMA kuzofanele basebenzise isihlalo esinamasondo ukuzulazula. Bangadinga nemishini yokubasiza baphefumule kangcono ebusuku.

Thayipha i-3 SMA

Uhlobo lwe-3 SMA lungabizwa nangokuthi ukuqala kokuphela kwesikhathi kwe-SMA, i-SMA emnene, noma isifo se-Kugelberg-Welander. Izimpawu zalolu hlobo lwe-SMA ziyahlukahluka kakhulu. Abantu abanezinhlobo ze-3 SMA ngokuvamile baba phakathi kwamane kuya kwayisishiyagalombili I-SMN2 izakhi zofuzo.

Lapho izimpawu ziqala

Izimpawu ziqala ngemuva kwezinyanga eziyi-18. Ngokuvamile kutholakala ngeminyaka engu-3, ​​kodwa iminyaka eqondile yokuqala ingahluka. Abanye abantu kungenzeka bangaqali ukuzwa izimpawu kuze kube sebekhulile.

Izimpawu

Abantu abane-type 3 SMA imvamisa bangazimela bazihambele, kepha bangalahlekelwa amandla okuhamba lapho sebekhulile. Ezinye izimpawu zifaka:

• ubunzima bokuvuka ezikhundleni ezihleliwe
• izinkinga zokulinganisela
• ubunzima bokukhuphuka izinyathelo noma ukugijima
• scoliosis

Umbono

Uhlobo lwe-3 SMA ngokuvamile aluguquli isikhathi sokuphila komuntu, kodwa abantu abanalolu hlobo basengozini yokukhuluphala ngokweqile. Amathambo abo nawo angaba buthakathaka futhi aphule kalula.

Thayipha i-4 SMA

Uhlobo lwe-4 SMA lubizwa nangokuthi ukuqala kwabantu abadala i-SMA. Abantu abane-4 SMA banezinhlobo eziphakathi kwezine nesishiyagalombili I-SMN2 zofuzo, ngakho-ke zingakhiqiza inani elifanele lamaprotheni ajwayelekile e-SMN. Uhlobo lwe-4 luvame kakhulu kulezi zinhlobo ezine.

Lapho izimpawu ziqala

Izimpawu zohlobo lwe-4 SMA zivame ukuqala lapho usukhulile, imvamisa ngemuva kweminyaka yobudala engama-35.

Izimpawu

Uhlobo lwe-4 SMA lungaqhubeka lubi ngokuhamba kwesikhathi. Izimpawu zifaka:

• ubuthakathaka ezandleni nasezinyaweni
• ukuhamba kanzima
• ukuqhaqhazela nokuxebula imisipha

Umbono

Uhlobo lwe-4 SMA aluguquli isikhathi sokuphila komuntu, futhi imisipha esetshenziselwa ukuphefumula nokugwinya imvamisa ayithinteki.

Izinhlobo ezijwayelekile ze-SMA

Lezi zinhlobo ze-SMA azivamile futhi zibangelwa ukuguqulwa kwezakhi zofuzo ezihlukile kunalezo ezithinta iphrotheni le-SMN.

• Umgogodla we-muscular atrophy onenkinga yokuphefumula (SMARD) kuyindlela engavamile kakhulu ye-SMA ebangelwa ukuguqulwa kofuzo IGHMBP2. ISMARD itholakala ezinganeni futhi idala izinkinga ezinzima zokuphefumula.
• Isifo sikaKennedy, noma i-spinal-bulbar musrrophy atrophy (SBMA), uhlobo olungavamile lwe-SMA oluvame ukuthinta abesilisa kuphela. Imvamisa iqala phakathi kweminyaka yobudala engama-20 nengama-40. Izimpawu zihlanganisa ukuthuthumela kwezandla, amajaqamba, ukuba buthakathaka kwezitho zomzimba, nokushwiba. Yize kungadala nobunzima bokuhamba kamuva empilweni, lolu hlobo lwe-SMA alujwayele ukushintsha isikhathi sokuphila.
• Ama-SMA akude ifomu elingajwayelekile elidalwa ukuguqulwa kwezakhi zofuzo kolunye lwezinhlobo eziningi zofuzo, kufaka phakathi UBA1, DYNC1H1, futhi IZIMBALI. Kuthinta amaseli ezinzwa emgogodleni. Izimpawu zivame ukuqala ngesikhathi sobusha futhi zibandakanya amajaqamba noma ubuthakathaka nokumoshwa kwemisipha. Akuthinti isikhathi sokuphila.

Ukuthatha

Kunezinhlobo ezine ezahlukahlukene ze-chromosome 5-ezihlobene ne-SMA, ecishe ihambisane nesikhathi lapho kuqala khona izimpawu. Uhlobo luye ngenombolo ye- I-SMN2 Izakhi zofuzo umuntu okufanele azisize ekunqandeni ukuguquka kwesimo ku I-SMN1 isakhi sofuzo. Ngokuvamile, iminyaka yokuqala yokuqala isho amakhophi ambalwa we- I-SMN2 kanye nomthelela omkhulu ekusebenzeni kwezimoto.

Izingane ezinohlobo lwe-1 SMA ngokuvamile zinezinga eliphansi kakhulu lokusebenza. Izinhlobo 2 kuya ku-4 zidala izimpawu ezinzima kakhulu. Kubalulekile ukuqaphela ukuthi i-SMA ayithinti ubuchopho bomuntu noma ikhono lakhe lokufunda.

Ezinye izinhlobo ezingavamile ze-SMA, kufaka phakathi i-SMARD, i-SBMA, ne-distal SMA, zibangelwa ukuguqulwa okuhlukile ngephethini ehluke ngokuphelele yefa. Khuluma nodokotela wakho ukuthola okwengeziwe ngezakhi zofuzo kanye nombono wohlobo oluthile.