I fa taksa ruhte chu a chak lo zauh zauh em? Duchenne Muscular Dystrophy chungchang hi i zir dawn nia!

I fate chu naupang dangte aiin a kal tlai zawk em? Nge a tlu reng em? Thutna atanga tho emaw, stairs chhoh emaw a harsat tih i hre tawh em? Hengte hi a chang chuan nu leh pa kan ngaih pawimawh vak loh thil a ni. Mahse a chang chuan hengte hi Duchenne Muscular Dystrophy ang chi natna chhinchhiahna hmasa ber a ni thei. Chuvangin vawiin hian he thu hi han sawi ila. Hlau suh, a pawimawh ber chu hei hi fimkhur hi a ni.

Duchenne Muscular Dystrophy (DMD) hi eng nge ni?

A awlsam zawngin sawi ila, ‘muscular dystrophy’ tih hi natna chi khat, hun kal zelah taksa ruh tichak lo va, an inthlak danglam theihna tichhe thei natna pawl a ni. Hei hi a tlangpuiin Duchenne muscular dystrophy a ni a, a tawi zawngin DMD kan ti a ni.

Hei hi kan taksa ruh hriselna atana puitu gene a chhiatna vang a ni. Kan taksa ruhte hi brick wall angin han ngaihtuah teh. Heng brick te hi a vawn khawmtu mortar hi protein dystrophin an tih a ni . DMD vei naupangteah chuan taksain he dystrophin protein hi a siam chhuak lo va, a nih loh leh a siam chhuah tlem hle. Tichuan, mortar tel lo bang ang maiin, taksa ruhte chu awlsam takin a chhe a, zawi zawiin a chak lo bawk.

Hetiang dinhmun hi mipa naupangah a tam ber . Naupan lai atanga a lan chhuah dan tlangpui. A tirah chuan ding te, kea kal te, leh stairs chhoh te chu a harsa thei hle. Hun a kal zel a, naupang ṭhenkhat chuan wheelchair an hman a ngai mai thei. Thinlung leh lungte pawh a nghawng thei bawk.

Eng nge a lan chhuah dan? Engtin nge i hriat chian?

I fain DMD a neih chuan kum 6 a tlin hmain chhinchhiahna hmasa ber i hmu tlangpui ang a, ke ruh (muscles) te hi a nghawng hmasa ber a ni. Hei vang hian heng naupangte hian naupang dang aiin an kal tlai tan a ni. An kal tan hnu chuan an tlu fo thin a, lei atanga tho chhuah harsa an ti a, stairs lawn pawh an harsat phah thin. Hun engemaw chen hnuah chuan an ke ruh zungpuiah an inhnukdawk emaw, an kal tan emaw thei bawk.

Naupang a lo upat deuh deuh chuan symptoms tam zawk a lang thei.

Mahse hre reng ang che, DMD hi a tlangpuiin natna hrehawm tak a ni lo va, naupang finna pawh a nghawng lo.

Engtin nge natna hi dik taka kan hriat theih ang?

I fate zingah heng symptoms te hi i hriat chuan a tha ber chu a rang thei ang bera chhungkaw doctor pan hi a ni. I fa natna lan chhuah dan a zawt ang che. Chumi hnuah naupang chu a enfiah ang a, a tul chuan test thenkhat atan a refer ang che.

Doctor-in rinhlelhna a neih chuan test tih tur

• Thisen test: Hei hian enzyme pakhat Creatine Kinase (CK) tih a en ber a ni. He CK enzyme hi thisenah hian taksa ruh a chhiat chuan a chhuak thin. Chuvangin CK level a sang hle a nih chuan DMD i nei tih clue lian tak a ni.
• Gene test: He test hi thisen sample hmanga tih theih a ni a, DMD thlentu dystrophin gene-ah chhiatna a awm leh awm loh dik takin a hriat theih a ni. He test hi hmeichhia chhungte pawhin he gene (natna kengtu an ni) an nei em tih hriat theih a ni.
• Muscle biopsy atanga lak chhuah: 1.1.Hetah hian naupang taksa peng te tak te tak te chu needle te tak te hmangin an la a, microscope hmangin an enfiah thin. Dystrophin protein hi a level a hniam em tih hriat chian theih a ni. Mahse, tunlai genetic testing hmasawn tak avang hian he test hi a tam zawkah chuan a ngai lo.

Enkawlnate chu engte nge ni?

DMD hi damdawi a la awm lo. Mahse, natna lan chhuah dan thunun tur leh taksa ruh, thinlung leh lung venhimna tur damdawi tha tak tak a awm nual.

• Corticosteroids: Prednisone leh Deflazacort ang damdawi te hian taksa ruh chhiatna hi nasa takin a thunun thei a ni. Heng damdawi ei thin naupangte hian a hmang lote aiin kum 2-5 vel an kal rei thei a ni. Tin, thinlung leh lung hnathawh that zawk nan an pui bawk.
• Tunlai Damdawi: Tunlai hian DMD thlentu genetic defect awm dan azirin targeted treatment engemawzat hman a ni tawh a. Damdawi thenkhat chu Eteplirsen, Golodirsen leh Casimersen te an ni. Hengte hian dystrophin protein bo chu level engemaw chen a thlen leh theih nan a pui thin.
• Gene therapy: (Delandistrogene moxeparvovec - Elevidys) hi hemi atan hian gene therapy pawm hmasak ber a ni. Taksa hnena protein dang pek a ni a, chu chuan dystrophin protein hnathawh chu a then a thlak a ni. Hengte hi enkawlna thar leh man to tak tak an la ni.
• Cardiologist Thurawn: DMD naupangte hian lung lam harsatna an nei thei a, chuvangin cardiologist hnena check-up neih fo hi a pawimawh hle. Thisen sang damdawi thenkhat hian heart muscle venhimna kawngah a pui thei a ni.
• Physiotherapy: Exercise leh stretch hian taksa ruh leh ruhkawrte a tidanglam thei a ni. Chumi atan chuan physiotherapist thurawn lak a pawimawh hle.
• Surgery: A then phei chuan taksa ruh tight (contractures) siamthat nan leh ruhro (scoliosis) curvature siamthat nan operation neih a ngai thei bawk.

Nu leh pa anga in tih theih thilte

I fain DMD ang chi natna a nei tih i hriat chuan i rilru a buai tih hi thil pangngai a ni. Mahse, he dinhmun hi i neih hian i fa chu sikul a kal thei lo va, ṭhiante nen a inkhel thei lo va, a hlim thei lo tihna a ni lo tih hre reng ang che. Enkawlna ruahmanna dik tak zawm hian i fa chu nun chak tak nei turin i pui thei ang.

• A theih ang anga ding leh kal pui rawh: Hei hian an ruh a tichak a, an ruh chu a dinglam theih nan a pui bawk. A tul chuan `braces` emaw `standing walkers` ang chi hmanrua i hmang thei bawk.
• Ei leh in tha tak pe rawh:DMD tan hian diet bik a awm lo. Mahse, ei leh in hrisel hian taksa rihna a control thei a, constipation ang chi thil a veng thei bawk. I fate nena inmil tur ei tur ruahmanna siam turin dietitian nen inbia ang che.
• Active takin awm rawh: Physics therapist hnen atangin thurawn la la, i fa chu taksa ruh tichhe lo exercise him tak takah tel tir rawh.
• Chak ve bawk ang che: Hetianga fa nei chhungkaw dangte nena inbiakna leh thil tawn inhrilhhriatna hi i tan chakna petu ropui tak a ni ang. Chumi atan chuan support group-ah te tel ve rawh. A tul chuan psychologist tanpuina zawng hreh suh.

Thutawp atan chuan DMD vei nun hi a harsa hle. Mahse damdawi inenkawlna dik, taksa enkawlna, ei leh in leh hmangaihna nena inenkawlna neih chuan heng naupangte hian tunlai khawtlang nunah mi zawng zawng ang bawkin nun hlawhtling leh hlim takin an hmang thei a ni. Science hmasawnna nen chuan nakin lawkah enkawlna tha zawk a lo chhuak ngei ang tih beiseina kan nei vek a ni.