I fa taksa ruh chu a chak lo deuh niin a lang em? Duchenne Muscular Dystrophy (DMD) chungchang zir rawh

I naupang tê chu an tlan leh inkhelh lai aṭang tawhin kea kal leh stairs-a chhoh a harsat ṭan tih i hre tawh mai thei. A nih loh leh an tlu reng a, an chau hle tih i hria em? Hengte hi thil tenawm tak tak, kan ngaihven vak loh ang maiin a lang thei a, mahse, dinhmun khirh tak tak chhinchhiahna hmasa ber a ni thei. Chu chu vawiinah hian kan sawi dawn chiah a, natna hian zawi zawiin taksa ruh a tichak lo a, a bik takin mipa naupangte chu a tichak lo hle.

Duchenne Muscular Dystrophy (DMD) hi eng nge ni?

A awlsam zawngin sawi ila, Duchenne muscular dystrophy, a tawi zawngin DMD tih hi kan taksaa ruh ruh , kan taksa peng hrang hrang tihchakna tura puitu thau leh thinlung ruh te chu a chak lo zauh zauh a, hun kal zelah a thawk thei lo a ni. Hei hi muscular dystrophy chi khat zingah chuan a tam ber leh na ber a ni .

Hetiang hian han ngaihtuah teh: kan taksa ruhte hi elastic rubber band ang mai a ni. He natnaah hian chu elastic muscle te chakna chu a tlahniam a, an thawk tha tawh lo. Hun a kal zel a, he dinhmun hi a na zual zel a, a tha zawk lo.

DMD hi genetic a ni fo va, chu chu thlah khat atanga thlah dangah a kal zel tihna a ni . A bik takin, X-linked recessive trait angin a kai darh a ni. Chumi awmzia chu nu chu natna kengtu a nih chuan a fain a hnen atangin a dawng thei tihna a ni. Mahse, a then phei chuan 30% vel chu, he natna hi genetic mutation thar vang pawh a ni thei a, chhungkaw zingah tumahin he natna hi an la nei lo a nih pawhin. Chumi awmzia chu a chang chuan random takin a thleng thei bawk.

He DMD natna hian tute nge a nghawng ber?

Duchenne muscular dystrophy hian mipa naupang a vei ber a ni . Mahse, hmeichhe naupang, natna thlentu gene kengtu te hian a chang chuan symptoms na lo tak tak an nei thei a ni. Mahse, hei hi a tam vak lo.

Muscle chak lohna chhinchhiahna hi kum 2 leh 4 inkar atanga tan a ni tlangpui a, mahse naupang thenkhat chuan kum 6 vel an nih hma chuan heng natna hi an lantir tan lo mai thei. Chuvangin rinhlelhna i neih chuan damdawi lam thurawn lak a tha ber.

DMD hi engtiang chiahin nge a awm?

Hei hi natna khirh tak ni mah se, mi pakhatin a ngaihtuah angin a tlem lo. Statistics atanga a lan dan chuan khawvel puma naupang mipa nau piang nung 3,600 zinga pakhat vel chu DMD vei an ni. DMD hi natna khirh tak, inherited myopathies , a nih loh leh ruh ruh natna zinga a tam ber zinga mi a ni.

DMD hi natna hlauhawm tak a ni em?

Ni e, lungchhiatthlak takin DMD hi a tawpah chuan thihna thlentu a ni.Natna dang. Hetiang natna vei tam tak hi lung leh thinlunga harsatna awm vangin an thi thin. Mahse lungngai suh, tuna enkawlna hman mekte nen hian i dam chhung pawhsei theihna tur leh nunphung tha engemaw chen i neih theih dan tur a awm.

DMD natna lan chhuahna chu engte nge ni?

Kan sawi tawh ang khan DMD symptoms hi kum 2 leh 4 inkar atanga tan a ni tlangpui a, mahse, a chang chuan nausen lai atang tawhin a intan thei a, naupan lai atanga a hnu lamah pawh a lang thei bawk.

DMD hian hun kal zelah taksa ruh a tichak lo a, a lan chhuah dan tlangpui chu:

• Muscle chak lohna leh wasting (muscle atrophy) zawi zawiin a pung a, ke leh hip atanga tan a ni. Hetiang dinhmun hian kut, kawr leh taksa peng dangte a nghawng tlem zawk.
• Calf muscle hypertrophy (chu chu calf muscle a lian tihna a ni). Hei hi muscle fibers te chu fatty tissue leh connective tissue in a thlak hian a thleng thin.
• Stairs chhoh harsat.
• Hun kal zelah kal harsa.
• Tlu fo thin.
• A waddling gait a ni.
• Toe kal chhuak.
• Chau tih hriatna (chau lutuk).

Ngaihtuah teh, i fapa chu leia inkhelh atanga thovin, a kut chu leiah a hmet a, chutah a kut chu a khup chungah a dah a, zawi zawiin a taksa chu harsatna nasa tak nen a han chawi sang a nih chuan, chu pawh chu he natna chhinchhiahna a ni thei bawk (hei hi Gowers-a chhinchhiahna an ti bawk).

Hei bakah hian DMD hian symptom dang a thlen thei bawk:

• Lung ruh natna (Cardiomyopathy) a ni.
• Thâwk harsa leh thawk hah.
• Cognitive impairment leh zirlai danglamna.
• Thusawi leh tawng tihhmasawn hun sawn hlat.
• Hmasawnna lama tlai lutuk.
• Scoliosis natna (Scoliosis) a ni.
• A sei zawng tawi.

Hmeichhe naupang DMD (carrier) thlentu gene kengtu zinga 2.5% leh 20% inkar chuan symptoms na lo tak tak an nei thei a, mahse a tlangpuiin a na lo hle.

Engvangin nge hetiang DMD hi a lo awm?

DMD thlentu ber chu kan taksa ruh hriselna atana pawimawh protein dystrophin siam chhuahna code tu gene-a mutation a ni. He protein, dystrophin hi dystrophin-glycoprotein complex (DGC) atan a pawimawh hle a, chu chu taksa peng hrang hrangte structural unit angin a thawk a ni.

DMD-ah chuan dystrophin leh DGC protein pahnih hi a bo vek a, a tawpah chuan muscle cell thihna (necrosis) a thlen thin.DMD vei chuan taksa ruh hrisel atana dystrophin mamawh zat 5% aia tlem a nei a ni.

DMD vei te chu an upat deuh deuh chuan an taksa ruhte chuan heng cell thi te hi cell thar nen a thlak thei tawh lo. Chu ai chuan , connective tissue leh adipose tissue te chuan muscle fibers te chu a thlak a ni.

Kan sawi tawh ang khan DMD hi X-linked recessive condition a ni. Mahse, 30% vel chu random takin a thleng thei bawk a, chhungkaw history engmah a awm lo.

"X-linked" tih hian DMD siamtu gene chu X chromosome -ah a awm tihna a ni. I hriat angin mipa hian X chromosome pakhat leh Y chromosome pakhat an nei a, hmeichhiain X chromosome pahnih an nei bawk.

"Recessive" tih awmzia chu miin natna thlentu gene copy pahnih a neih phawt chuan natna a kai dawn tihna a ni. Mahse mipa erawh chuan X chromosome pakhat an nei thung. Chuvangin DMD thlentu gene mutation chu chu X chromosome-ah chuan a awm a nih chuan DMD an hmu ang. Hmeichhiain DMD a neih theih nan chuan a X chromosome pahnih ah he gene mutation hi a neih a ngai a ni. Chu chu a tlem hle. Mahse X chromosome pakhat chauh a mutation a neih chuan natna kengtu a ni ang.

Engtin nge DMD hi hmuhchhuah a nih?

I fain DMD chhinchhiahna a lan chuan doctor chuan taksa enfiahna , thluak enfiahna, leh taksa ruh enfiahna a ti hmasa ang. I fa symptoms leh medical history te pawh an zawt ang.

Doctor-in naupangin DMD a nei nia a rinhlelh chuan a hnuaia test te hi tih theih a ni.

• Creatine Kinase (CK) thisen test: Muscle a chhiat chuan thisenah enzyme pakhat creatine kinase an tih chu a lo awm khawm thin. Chuvangin, CK level a san chuan DMD chhinchhiahna a ni thei. He level hi kum 2 velah a sang ber tlangpui a, a tlangpui aiin a let 10-20 velin a sang thei bawk.
• Genetic blood test: DMD hi genetic test hmanga finfiah theih a ni a, chu chuan dystrophin gene chu a bo vek emaw, a then emaw a bo tih hmuhchhuah a ni.
• Muscle biopsy: Doctor chuan i fa kekawrte emaw, a ke ruh emaw atanga taksa ruh sample tlemte a la thei. Specialist chuan microscope hmangin sample chu DMD chhinchhiahna a awm leh awm loh a en ang.
• Electrocardiogram (EKG): DMD hian thinlung a nghawng fo avangin doctor chuan DMD symptom bik eng emaw zat enfiah nan leh thinlung hriselna tehna atan EKG a ti ang.

Hei hi eng enkawlna nge ni?

Vanduaithlak takin tunah hian DMD hi damdawi a la awm lo . Chuvangin, enkawlna tum ber chu natna lan chhuah dan (symptoms) control a, naupang nunphung a tha thei ang bera vawn that hi a ni.

DMD enkawlna atana puitu tur chu a hnuaia mi hi a ni:

• Corticosteroids: Steroid damdawi, prednisolone leh deflazacort , te hian taksa ruh chakna a ti hniam a, lung hnathawh a tichak a, scoliosis a ti hniam a, thinlung ruh chak lohna (cardiomyopathy) a ti hniam a, dam chhung a ti rei bawk.
• Cardiomyopathy damdawi: ACE inhibitor leh/ emaw beta-blockers ang chi damdawi ei hmasak hian heart muscle chak lohna a control thei a, heart attack a veng thei bawk.
• Physical therapy: Physical therapy tum ber chu contractures , chu chu taksa ruh, ruh, leh vun tikhauh rengtu ven hi a ni. Hei hian stretching exercise bik a huam tlangpui.
• Spinal stenosis leh muscle tightness te surgery: A nasat chuan muscle tightness tihziaawm nan operation neih a ngai mai thei. Spinal stenosis siamthatna tur surgery hian lung hnathawh leh thawk dan a titha thei a ni.
• Exercise: I fa doctor chuan hman loh loh nan muscle atrophy dang a awm loh nan exercise nêm tak a rawt fo ang. Hei hi pool exercise leh intihhlimna nena inzawm hian tih a ni tlangpui.

Supporting treatment dangte chu:

• Mobility aids: brace, cane, leh wheelchair te.
• Tracheostomy leh thawkna lama harsatna nei tan assisted ventilation te a awm bawk.

Kum sawmhnih kalta chhung khan DMD vei te dam rei zawng chu supportive care service lama hmasawnna avang hian nasa takin a pung a ni.

Tunah hian damdawi thar eng emaw zat chu clinical testing neih mek a ni a, hei hian DMD enkawlna atana beiseina a pe thei a ni. Tun hnaiah FDA (Food and Drug Administration) chuan enkawlna thar engemaw zat, "exon skipping" (dystrophin gene-a thil awm lo emaw, a inthlak danglam emaw "splice"-na hmanrua) te chu a pawm a ni. Mahse, heng enkawlnate hi mi tlemte, genetic mutations bik tak tak nei tan chauh hman theih a ni. Heng enkawlnate hian taksa peng hrang hranga dystrophin protein awm zat tipung mah se, chakna leh taksa hnathawhnaah hmasawnna lian tham an la hmu lo.

He DMD condition hi ven theih a ni em?

DMD hi thlahtute atanga lo piang a nih avangin, a venna tur engmah i tih theih a awm lo . A hmun thuma ṭhena hmun khat vel chu random-a thleng a ni a, chhungkaw history a awm lo.

Fa neih i tum hmaa i fate hnena DMD emaw, genetic condition dang emaw i thlen theihna tur i ngaihtuah a nih chuan genetic counselling ngaihtuah rawh.Hemi chungchang hi i doctor nen sawiho rawh. A then phei chuan naupai tirh lama prenatal testing neih hian DMD a hmuchhuak thei a ni.

Nakinah eng ang dinhmun nge beisei theih ang (Prognosis)?

DMD vei te hian prognosis tha lo tak an nei fo thin . Hei hian progressive disability a thlen a, DMD vei naupang tam tak chu kum 12 an tlin chuan wheelchair-ah an inkhung a, DMD hian thih hma a thlen thei bawk.

DMD vei dam rei zawng chu engzat nge ni ang?

DMD vei te chu kum 25 an tlin chuan he natna avang hian an thi fo thin a, mahse, supportive care lama hmasawnna a awm avangin tunah chuan mi tam tak chu an dam rei tawh hle.

Thihna hi thawkna (thâwk) emaw, rilru lam harsatna vang emaw a ni fo. Pneumonia, ei tur ang chi thil dang aspiration emaw, thawkna kawng khar emaw pawh hian thihna a thlen thei bawk.

DMD vei hi engtin nge i enkawl?

DMD vei i enkawl a nih chuan, an tan advocate a pawimawh a, medical care leh therapy tha ber ber an hmuh theih nan tanpui , chutiang chuan nun quality tha ber an nei thei ang.

Tin, nang leh i chhungte tan pawh hetiang thil tawn tawh midangte nena inhmu turin support group-a tel ve hi thil tha tak a ni thei bawk. Nangmah chauh i ni lo tih hriat hi fuihna nasa tak a ni thei bawk.

Ka fa hian DMD chungchangah engtikah nge doctor a hmuh ang?

I fa chu DMD a vei tih hmuhchhuah a nih chuan an medical team te hmuh fo a ngai ang a, enkawlna dawng tur leh a natna lan chhuah dan enfiah a ngai ang.

I fa DMD dinhmun hriatthiam chu i tan a harsa thei hle. Mahse i medical team chuan i fate symptoms ang zela structured management plan an pe ang che. I fate hriselna hi enfiah reng a pawimawh a, an mamawh tanpuina an dawng tih chian a pawimawh bawk. I medical team te chu nangmah, i chhungte leh i fate tanpui turin an awm reng tih hre reng ang che.

A tawp berah chuan hei hi hre reng ang che (Take-Home Message) .

Duchenne muscular dystrophy (DMD) hi natna khirh tak, dam chhung zawnga natna a ni. Mahse, hriatna, hriat hmasak, leh damdawi lam thurawn dik tak leh ṭanpuitu enkawlna chuan naupang nunphung a sang thei ang bera awm reng turin a pui thei a ni.

Hriat reng tur: Nangmah chauh i ni lo. Doctor, physical therapist, counselor leh support group dangte chu nang leh i fate tanpui turin an awm a ni. Enkawlna thar chungchanga zirchianna hi a thleng fo thin. Chuvangin beiseina bansan suh. A pawimawh ber chu i fate hmangaihna, ngaihsakna leh fuihna pek hi a ni.

I fa taksa ruh emaw, kea kal harsatna emaw chungchangah ngaihtuahna i neih chuan thil tenawm tak angin hnawl suh.Doctor thiam tak hnenah thurawn dil nghal rawh. Natna hi a hriat hma poh leh enkawl a awlsam phah dawn a ni.

` Duchenne muscular dystrophy, DMD, taksa chak lohna, genetic natna, mipa naupang natna, dystrophin, naupang hriselna