Naupang emaw, tleirawl emaw ṭhenkhat chuan mi dangte aiin kea kal, tlan, a nih loh leh stairs-a chhoh an harsat deuh tih i hmu ngai em? A nih loh leh an taksa ruhte chu a chak lo zauh zauh ang maiin i inhriat ngai em? Hei hi a chhan pawh hi tunlaia kan sawi tur dinhmun, `(Becker Muscular Dystrophy)` tih hi a ni mai thei. Lungngai suh, thumal awlsam takin engkim hi han sawifiah ila.
`(Becker Muscular Dystrophy)` tih hi eng nge ni? A awlsam zawngin sawi ila...
`(Becker Muscular Dystrophy)`, a tawi zawngin `(BMD)` tia hriat bawk hi genetic condition hmuh tur awm lo tak a ni. Thil thleng chu taksa ruhte chu a chak lo zauh zauh a, an hnathawh a tlahniam a ni. A dik tak chuan hei hi genetic condition a ni. Hetiang dinhmun hian mipa leh mipa a nghawng tam ber. A chhan chu `(X-linked inheritance)` a ni a, chu chu nu (carrier a nih chuan) atanga fa mipa hnena rochun a ni tihna a ni.
He taksa chak lohna hi i ke leh i hip atanga intan a ni tlangpui a, hun kal zelah i kut chunglam thlengin a darh thei a, chu chu i taksa chunglam tihna a ni.
Tuna muscular dystrophy chi hrang hrang hriat chhuah zingah hian BMD hi puitling zingah chuan a tam ber pathumna a ni thei a, myotonic dystrophy leh facioscapulohumeral dystrophy te hnuaiah a awm thei.
`(Becker Muscular Dystrophy)` leh `(Duchenne Muscular Dystrophy)` te hi eng nge an danglamna?
`(Duchenne Muscular Dystrophy)` emaw `(DMD)` emaw tih natna i hre tawh mai thei. `(BMD)` leh `(DMD)` te hi gene pakhata mutation awm vang a ni a, chu chu protein pakhat `(dystrophin) code tu gene a ni.` He protein `(dystrophin)` tih hi kan taksa ruh hriselna atan a pawimawh hle.
Mahse, a danglamna chu hetiang hi a ni:
- DMD vei chuan an taksa ruh (muscle tissue) ah dystrophin protein a nei lo tluk a ni.
- BMD vei chuan an taksa ruh ah dystrophin engemaw zat a nei a, mahse a tawk lo.
Chuvangin, `(BMD)` natna hi `(DMD)` aiin a na lo deuh a, `(DMD)` aiin a natna lan chhuah dan leh a kal chak zawk hle. Mahse, an pahnih tan hian a symptom tam zawk chu a inang vek thung.
Hetiang natna (Becker Muscular Dystrophy) hian tute nge a nghawng nasa ber?
Kan sawi tawh ang khan BMD hian mipa a nghawng ber a ni. Mahse, Hmeichhia BMD kengtu (i.e., natna thlentu gene kengtu, mahse symptoms lang lo) te hian a chang chuan symptom an nei thei. Mahse, a tlangpuiin chutiang chuan an na lo va, an na lo hle bawk.
A tam zawkah chuan kum 5 leh 15 inkar atanga natna lanchhuahna hi a intan thin a, mahse, mi thenkhat chuan a hnuah natna lanchhuahna an nei thei a ni.
`(Becker Muscular Dystrophy)` hi engtiang chiahin nge a awm?
BMD hi a takah chuan thil awm lo tak a ni.He natna hian naute piang 100,000 zinga 3 leh 6 inkar a nghawng a ni. Tin, kan sawi tawh ang khan tlangvalte a nghawng nasa ber bawk.
`(Becker Muscular Dystrophy)` natna lan chhuah dan chu engte nge ni?
BMD symptoms hi kum 5 leh 15 inkar atanga tan a ni tlangpui a, mahse a hnuah a awm thei. Thil thleng chu hun kal zelah taksa chak lohna hi a pung zauh zauh thin. Chuvangin, a lan chhuah dan tlangpui chu:
- Stairs chhoh harsat.
- Kea kal harsatna, leh hun kal zelah harsatna a pun zel.
- Exercise thiamna tlahniam (thawhrimna tlemte pawh nise chau tih hriat).
- Muscle na leh/ emaw muscle twitching (cramp ang chi).
- Tlu fo thin.
- Toe kal chhuak.
- Chau tih hriat reng (Fatigue).
Ngaihtuah teh, i fa chu a hma angin a tlan a, a infiam lo a, rei vak lo a kal hnu pawha "Mommy, ka chau tawh" a tih chuan, a nih loh leh sikula a inkhelh laiin naupang dang aiin a chau rang zawk a nih chuan, chu chu tlem tal ngaihtuah a tha.
Hei bakah hian BMD hian symptom dang a thlen thei bawk:
- Cardiomyopathy : Hei hi fimkhur tur a ni.
- Thâwk harsa.
- Zirna lama danglamna \henkhat (thil \henkhat chu thil dang aiin hriatthiamna hun rei zawk hman ang chi).
- Taksa balance leh coordination hloh.
Hmeichhia BMD carrier te hian cardiomyopathy emaw, taksa ruh chak lohna na lo tak emaw chauh an nei thei. Carrier zinga 22% velin symptom an nei dawn nia chhut a ni a, mahse hei hi mi hrang hrangah a inang lo hle.
Eng thilin nge `(Becker Muscular Dystrophy)` a thlen?
BMD hi genetic condition a ni a, a rochun a ni. Dystrophin an tih protein code tu gene-a mutation avanga lo awm a ni. Dystrophin hi kan taksaa muscle cells te chak leh nghet taka vawn reng nan a pawimawh hle.
Chuvangin, he `(dystrophin)` gene-ah hian inthlak danglamna a awm chuan, `(dystrophin)` protein chu a lo chhuak lo emaw, a siam chhuah zat chu nasa takin a tlahniam emaw a ni. Chumi avang chuan hun kal zelah taksa ruhte chu a chak lo va, a chhe tan ta a ni.
Engtin nge Becker Muscular Dystrophy hi rochun a nih? Hei hi tlem tal i hriatthiam a ngai a ni!
`(BMD)` hi `(X-linked recessive inheritance)` tih angin rochun a ni. Tunah chuan hei hi awlsam takin i hrethiam ang u.
- X-linked tih awmzia chu BMD siamtu gene chu X chromosome-ah a awm tihna a ni. I hriat angin sex chromosome pahnih X leh Y kan nei a.
- Recessive tih awmzia chu he natna hi a lo awm theih nan chuan a kaihhnawih gene copy pahnih (gene tin deuhthaw copy pahnih kan nei) hian natna thlentu pathogenic variant emaw mutation emaw a nei tur a ni.
Mahse hei hi a pawimawh ber chu a ni:
- Mipa (XY) hian X chromosome pakhat an nei a. Chuvangin, chu X chromosome pakhatah chuan a kaihhnawih gene-ah chuan chhiatna a awm a nih chuan `(BMD)` thlentu tur a tawk a ni.
- Hmeichhia hian X chromosome pahnih (XX) an nei a . Chuvangin X-linked recessive disease a lo awm theih nan chuan a tlangpuiin gene copy pahnih hi a chhiat vek a ngai a ni. Mahse, hmeichhia X chromosome pakhat chauha gene chhia nei te chu "carrier" an ti thung. A tam zawkah chuan heng carrier te hian symptom an nei lo. Mahse, a tlem hle a, symptoms na lo emaw, a na lo emaw a awm thei.
Tunah chuan hei hi thlah kal zelah engtin nge a kal zel tih hi han en teh:
- Nu carrier (X chromosome pakhata gene chhia nei) tan chuan :
- Fapa a pian chuan a fapa hian `(BMD)` natna a neih theihna chance 50% a awm.
- Fanu i neih chuan carrier a nih theihna chance 50% a awm.
- Pa (BMD) condition nei tan chuan :
- He natna hi a fapate hnenah a pe chhuak thei lo (a chhan chu a pain Y chromosome chu fapa hnenah a pe chhuak thin).
- Mahse a fanute zawng zawng chu carrier an ni vek ang (a chhan chu pain fanu hnenah X chromosome chhia a pek vang a ni).
I hrethiam em? Hei hi a buaithlak deuhin a lang thei a, mahse a awlsam zawngin sawi ila, tlangval hian a nu hnen atangin hei hi a dawng tam ber a, nu chu carrier a nih chuan.
Engtin nge `(Becker Muscular Dystrophy)` hi hriat chhuah a nih?
Nangmah emaw, i fa emaw chu BMD nei nia rinhlelh i nih chuan, i doctor chuan taksa enfiahna, thluak enfiahna, leh taksa ruh test te a ti ngei ang. I natna lan chhuah dan leh i damdawi lam chanchin te pawh an zawt ang che a, chutah chuan i chhungte zingah tu emaw pawhin hetiang natna hi an nei tawh em tih te pawh an zawt ang che.
Heng test neih chhung hian doctor chuan hetiang hi a hmu thei a:
- Ke leh hip-a muscle te chu a atrophied tawh a ni.
- Groin area-a muscle te hi a hmasa berah chuan lian takin lang thei mahse (hei hi ``pseudohypertrophy'' an ti a), a takah chuan an chak lo hle. A chhung lam atanga pawn lam atanga an puak chhuak mai mai ang mai a ni.
- Spine curvature (scoliosis) leh rilru natna thenkhat.
- Muscle abnormalities, entirnan, kephah leh ke ruh, tendons leh vun te a nghet taka tihkhauh (contractures) .
`(Becker Muscular Dystrophy)` tih hriat nan eng test nge hman thin?
I doctor chuan nang emaw i fa emaw hian BMD i nei nia a rinhlelh chuan a hnuaia test te hi a rawt thei ang:
- Creatine kinase thisen test: Taksa a chhiat chuan thisenah enzyme pakhat creatine kinase an tih chu a chhuah tir thin. BMD vei chuan he creatine kinase level hi a tlangpui aia a let nga emaw a aia tam emaw a nei thei.
- Genetic blood test: He genetic test, Dystrophin gene-a mutation awm leh awm loh enfiahna hian BMD chu chiang takin a hmu thei a ni.
Nangmah emaw i fa emaw hian BMD i nei tih finfiah a nih chuan i doctor chuan Electrocardiogram (EKG) emaw Echocardiogram emaw hmangin BMD avanga heart muscle lama harsatna awm thei te enfiah turin a rawt thei bawk.
Becker Muscular Dystrophy hi engtin nge enkawl a nih?
Vanduaithlak takin tun dinhmunah BMD damdawi a la awm lo. Chuvangin, enkawlna tum ber chu symptoms control a, nunphung tha ber neih reng hi a ni.
BMD enkawlna chi hnih a awm a, chungte chu:
1. Corticosteroids: Entirnan, damdawi prednisolone ang chi. Hengte hian lung hnathawh a tichak a, scoliosis natna a ti hniam a, cardiomyopathy a ti hniam a, dam rei zawng a ti rei bawk.
2. Rehabilitation: Hengte hian damlo chu hnathawh theihna hun rei zawk vawng reng tur leh nunphung tihchangtlun nan a pui thin.
- Physical therapy hian taksa ruh tichak turin a pui a ni.
- Speech therapy, occupational therapy, leh recreational therapy te hian nitin hnathawhnaah a pui thei a ni.
Hei bakah hian BMD natna atana pui thei tur enkawlna dang a awm bawk:
- Kea kal ang chi thil atana mobility aids - e.g. cane, wheelchair, brace te pawh a awm bawk.
- `(Cardiomyopathy)` damdawi - e.g. `(ACE inhibitor)` leh `(beta-blockers)` te pawh a awm bawk .
- Scoliosis leh contractures te tanpui nan surgery neih a ni.
- Thâwk harsatna a nasat chuan (thâwk lama harsatna) , tracheostomy (thâwk chhuahna kawng hawn nana surgical procedure) leh artificial respiration tih a ngai mai thei.
Vanneihthlak takin BMD enkawl thei damdawi thar engemawzat chu tunah hian clinical trial neih mek a ni a, nakin lawkah chuan result tha tak kan beisei thei a ni.
Becker Muscular Dystrophy hi a veng thei ang em?
BMD hi thlahtute atanga lo piang a nih avangin a veng tur hian engmah tih theih a awm lo.
Mahse, BMD i neih chuan, emaw, BMD emaw, genetic condition dang emaw i nei thei tih i ngaihtuah a nih chuan, fa i neih hmain i doctor nen inbia ang che.Genetic counselling zawng hi a tha hle.
Becker Muscular Dystrophy hi eng nge a nih?
BMD vei tan chuan mi hrang hrangah a thlir dan a inang lo thei. Hei hi chak lohna lo zual zel a ni. Mahse, rualbanlohna nasat dan chu a inang lo. Mi thenkhat chuan wheelchair an mamawh mai thei a, thenkhat erawh chuan kea kalna hmanrua (canes, crutches) chauh hman a ngai mai thei.
Mahse, ``(BMD)`` vei mi pakhatin thinlung natna emaw, thawk harsatna emaw a neih chuan an dam rei zawng chu a tawi thei a ni.
BMD avanga harsatna awm thei te chu:
- Lung lam harsatna, a bik takin `(Cardiomyopathy)`.
- Thâwkna ruh chak lo vanga thawk harsatna.
- Pneumonia emaw thawkna lama natna dang emaw a awm thei.
- Hun a kal zel a, rualbanlona a pung a, chu mi chu mahni inrintawkna nei lovin a hna a thawk thei lo.
- Ruh tliak a awm.
`(Becker Muscular Dystrophy)` vei dam rei zawng chu engzat nge ni ang?
``BMD'' vei dam rei zawng hi a tawi deuh tlangpui. Chu chu kum 40 leh 50 inkar a ni. ``Dilated cardiomyopathy'' (thinlung ruh chak lo leh lian zel) hi thihna thlentu ber a ni.
`(BMD)` vei hi engtin nge ka enkawl ang? A nih loh leh engtin nge ka in enkawl ang?
BMD i neih chuan BMD natna khirh tak tak, thinlung natna leh thawk lama harsatna te venna emaw, enkawl emaw turin damdawi lam enkawlna tha tak neih a pawimawh hle. I thil tawnte sawihona leh nangmah hrethiamtu midangte nena inhmuhna tur support group-a tel ve pawh a \angkai thei bawk.
BMD vei i enkawl a nih chuan damdawi lam enkawlna tha ber ber te, kea kalna atana puitu mamawh te, leh mahni inrintawkna neia hnathawh theihna tura puitu therapies te a dawng tih chian a pawimawh hle. An thurawn petu tur chu nangmah i ni.
`(Becker Muscular Dystrophy)` chungchangah engtikah nge doctor ka hmuh ang?
Nangmah (or i fa) Becker Muscular Dystrophy vei nia hriat i nih chuan i medical team te enkawl fo tur leh i natna lan chhuah dan enfiah fo a pawimawh hle.
Becker Muscular Dystrophy ang diagnosis hi hriatthiam leh hmachhawn a awlsam lo tih kan hria. A buaithlak thei hle. I medical team chuan i symptoms ang zela solid management plan an pe ang che. I mamawh puihna i dawng tih leh i hriselna i enkawl tih chian a pawimawh.
A tawi zawngin, kan hriat reng tur thil (Take-Home Message) .
Okay, chuvangin hetiang hian kan sawi tawh `(Becker Muscular Dystrophy)` emaw `(BMD)` emaw chungchanga hriat reng tur awlsam tak tak te chu hetiang hi a ni:
- ``(BMD)`` hi genetic disease a ni a, thlah kal zelah a kai darh zel a ni. Chutah chuan taksa ruhte chu a chak lo zauh zauh a.
- HeiMipa a nghawng nasa ber.
- A chhan chu protein ``dystrophin'' siamtu gene a chhiatna vang a ni.
- Naupan lai (kum 5 leh 15 inkar) atanga a lan chhuah dan tlangpui. A lan chhuah dan chu kea kal harsa, hah, leh tlu fo te a ni.
- Cardiomyopathy (thinlung ruh natna) leh thawk lama harsatna te hi he natna avanga harsatna lian ber a ni thei.
- Tunah hian he natna hi damdawi a la awm lo. Mahse, natna lan chhuah dan control leh nunphung tihchangtlunna tur enkawlna hrang hrang a awm (e.g., corticosteroids, physical therapy).
- Chhungkuaa mi tu emaw hian hetiang dinhmun hi a nei a nih chuan fa neih hmain genetic counselling zawng hmasa phawt a finthlak ang.
- Damdawi lam thurawn leh inenkawlna zawng fo a pawimawh hle bawk a, chubakah rilru lama chak taka awm reng a pawimawh hle bawk.
I theihnghilh suh, nangmah chauh i ni lo. Hetiang i tawn lai hian doctor, chhungte, ṭhiante leh ṭanpuitu pawlte hnen aṭangin ṭanpuina zawng rawh. I tan chakna petu ropui tak a ni ang!
` Becker muscular dystrophy, BMD, taksa chak lohna, genetic diseases, dystrophin, X-linked, gene mutations, naupang hriselna, thinlung natna, taksa enkawlna
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