Nausen piang thar beihpui thlak leh kea kal tan lai hmuh hi nu leh pa tu tan pawh lawmna ropui tak a ni. Mahse a chang chuan, naupang thenkhatah hian taksa chakna leh chetna tlakchhamna kan hmu thin. Hei hi a chhan pakhat chu tunlaia kan sawi mek dinhmun, Spinal Muscular Atrophy , a tawi zawngin SMA an tih hi a ni thei. Hei hi thupui pawimawh tak ni mahse, a chungchang hi dik taka hriattir a pawimawh hle.
A awlsam zawngin sawi ila, Spinal Muscular Atrophy (SMA) hi eng nge ni?
Spinal Muscular Atrophy (SMA) hi thlahtute atanga lo chhuak a ni. Kan taksa ruh (muscles) te hi nerve cell chi khatin a thunun a ni. Hengte hi motor neurons kan ti a . I thluak hi i power plant ber angin ngaihtuah rawh. Chuta tang chuan heng motor neurons te hi ‘wire’ te an ni a, chu chuan electrical signal te chu i kut leh ke ruh (muscles) ah a phur lut thin a ni. SMA-ah chuan heng spinal cord-a heng motor neurons te hi a chhe vek a, zawi zawiin an chak lo chho zel a ni. Heng ‘wire’ te hi a chak lo deuh chuan thluak atanga signal lo lutte hian taksa ruh (muscles) a thleng tha lo. Chuvang chuan taksa ruhte chu a inzawm khawm tan a, a chak lo bawk.
Naupang leh puitling pawh a nghawng thei a ni. Naupangin natna a vei theih nan chuan natna thlentu gene chu nu leh pa pahnih atanga rochun a ngai a ni . Khawtlang puitling 50 zinga pakhat vel chu he gene hi kengtu an ni thei. Chumi awmzia chu an taksaah natna gene nei mah se, symptom an lantir lo tihna a ni. Mahse, naupangin he natna hi nu leh pa pahnih, carrier an nih atang hian a rochun theihna chance a awm. A vaiin naupang piang 10,000 zinga pakhat velin he natna hi an vei thei a ni.
Pawimawh tak chu SMA natna hi a natna lan chhuah tan kum a zirin a nasat dan a inang lo. A tlangpuiin nausen atanga a lan chhuah tan chuan natna hi a na zawk thei.
SMA natna chi hrang hrang leh an mizia te
Doctor-te chuan he natna hi a lo chhuah hun leh a nasat dan a zirin chi hrang hrangah an ṭhen a. Type tin hi chipchiar zawkin han thlir ila.
| SMA Type a ni | Symptoms lo awm tan hun | Main features leh details te |
|---|---|---|
| Type 0 a ni | Pian hma atang tawh khan |
|
| Type 1 a ni (Werdnig-Hoffmann natna) tih a ni. | Thla 3 vel a nih chuan | |
| Type 2 a ni | Thla 7 leh 18 inkar | |
| Type 3 a ni (Kugelberg-Welander natna) tih a ni. | Naupan lai emaw, puitling tleirawl emaw-ah | |
| Type 4 a ni | Puitlingah (a tlangpuiin kum 30 hnuah) . |
Engvangin nge heng symptoms te hi i ngaihtuah tur?
Kan hmuh angin SMA hian taksa chetna tura puitu ruh (muscles) te a nghawng ber a ni. Mahse, chutah chuan a tawp lo.
- Thâwk chhuah: Kan rilru chhunga ruh (muscles) te hian thawk luh leh chhuah kawngah min pui thin. Heng ruhte hi a chak lo a nih chuan kan thawk tha thei lo. Hei hian thawkna lama natna hrik pneumonia ang chi a thlen fo thei a ni.
- Ei leh in: Kan kawr leh kan ka chhunga ruh (muscles) te hian chaw ei leh in kan ei leh in min pui thin. An chak loh chuan naupangin a hnute a pe thei lo va, chaw a ei tha thei lo bawk. Hei hian malnutrition a thlen thei a ni.
- Taksa pianzia: Ruhro dinglam tura puitu ruhte a chak loh chuan ruhro chu a curve tan thin (scoliosis). Hei hian thawk a ti harsa thei hle.
Enkawlna a awm em?
SMA damdawi a la awm lo. Mahse, tun hnaiah medical science lama hmasawnna chuan natna kal zel dan tur thunun thei leh a lan chhuah dan tur enkawl thei damdawi thar engemaw zat a rawn siam chhuak ta a ni.
Entirnan, US FDA-in a pawmpui enkawlna pahnih chu:
- Nusinersen (Spinraza) chuan a rawn ti a.
- A rilru a buai em em a, a rilru a hah em em bawk a.
Hengte hi enkawlna buaithlak tak leh man to tak tak, genetic level-a thawk an ni. Sri Lanka rama an awm leh awm loh chungchang i doctor nen inbiakna neih a pawimawh hle.
Pawimawh: Nangmah emaw, i fa emaw enfiahtu specialist chauhvin nangmah emaw i fa emaw tan eng enkawlna nge tha ber tih a rel tur a ni. Internet-a thu hriatte hmangin thutlukna siam ngai suh.
Chu bakah, physiotherapy, thawk dan exercise, ei leh in lama thurawn, leh a tul chuan operation (e.g., spinal fusion) te hian damlo nunphung a tichangtlung a, harsatna a thlen loh nan a pui bawk.
Take-Home Thuchah a ni
- Spinal Muscular Atrophy (SMA) hi genetic disease a ni a, kan taksa peng hrang hrang control tu nerve cells te hi a nghawng a ni.
- He natna hi a lan chhuah tan kum a zirin chi hrang hrangah then a ni. Kum naupan lai atanga natna lan chhuah tan chuan natna hi a na zawk thei.
- I fa taksa chu "lumpy" a nih a, an lu chawi sang, a inher emaw, a thut emaw a harsat chuan naupang enkawltu thiam tak pan nghal rawh.
- SMA hi tihdam kim theih ni lo mah se, tunlai enkawlna leh hmanraw hrang hrang, physical therapy ang chi te hian natna hi a thunun thei a, nunphung a tichangtlung thei bawk.
- Enkawlna chungchanga thutlukna eng pawh hi doctor nena inbiakna hnuah chauh siam tur a ni.
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