I taksa ruhte chu a chak lo zauh zauh em? Muscular Dystrophy chungchang hi han sawi ila

Nangmah emaw, i chhungkuaa mi tu emaw, a bik takin naupangin i taksa chu zawi zawiin chakna a hloh chho zel tih i hre tawh em? Kea kal, tlan, stairs chhoh pawh a harsa tawh hle mai thei. Thut atanga tho chhuakin, i kut hmangin leiah i nawr thla a, i khup hmangin tho turin harsatna i tawk tawh em? Heng symptoms te hi i neih chuan vawiin hian a chhan awm thei pakhat kan sawi dawn a ni. Chu chu muscular dystrophy a ni. A hming i hriat chuan hlau suh. Hemi chungchang hi a awlsam zawngin, mi zawng zawngin an hriatthiam theih tur angin sawi ila.

Muscular Dystrophy hi eng nge ni?

A awlsam zawngin, muscular dystrophy hi genetic condition 30 chuang awmna pawl a ni a, chu chuan kan taksa ruhte hnathawh a tichhe a, zawi zawiin a tichak lo hle. "Genetic" tih awmzia chu thlah khat atanga thlah dangah a kal zel theih tihna a ni. Hetiang dinhmunah hian taksain taksa ruh hrisel tak neih theihna tura protein mamawh a siam chhuah theihna a hloh a ni. Chuvang chuan hun kal zelah taksa ruhte chu chakna a hloh a, a lo tlem ta hle a ni.

Hei hi a takah chuan myopathy an tih condition a ni a, chu chu kan ruhro (skeleton) nena inzawm taksa ruh (muscles) te a nghawng tihna a ni. Natna chi hrang hrang a zirin i kal theihna te, i che theihna te, leh nitin hna i thawh theihna te a nghawng thei a ni. Kan thinlung leh lung hnathawhna tura puitu ruh (muscles) te pawh a nghawng thei bawk.

Muscular dystrophy chi thenkhat chu pianpui emaw, naupan lai atanga lo lang emaw a ni. A chi dang chu puitlin hunah a lo lang thin.

Muscular dystrophy chi hrang hrangte chu engte nge ni?

Kan sawi tawh ang khan hei hi chi 30 chuang a awm a. Mahse, kan hmuh fo thin chi hrang hrang tlemte hi han sawi ila. Table pakhata heng chipchiar tak takte hi hriatthiam a awlsam zawk ang.

Muscular dystrophy natna lan chhuah dan chu engte nge ni?

He natna lan chhuah dan hi a chi hrang hrang a zirin a danglam thei hle. MahseA lan chhuah dan ber chu taksa ruh chak lohna leh a kaihhnawih harsatna a ni. Heng symptoms te hi hun kal zelah a pung zauh zauh tlangpui.

Heng symptoms te hi hmun hnih ah then ila.

Engvangin nge he natna hi a lo awm? Eng nge a chhan?

Hei hi a chhan ber chu genes inthlak danglamna (mutations) vang a ni.

Kan taksa ruhte hian hrisel leh chak taka awmtîrtu genes tih blueprint an nei tih han ngaihtuah teh. Heng genes-ah hian inthlak danglamna emaw, inthlak danglamna emaw a awm chuan chu blueprint chu a tibuai a ni. Tichuan taksa ruh enkawltu leh siamtu cell te hian an hna an thawk tha thei lo. Chumi avang chuan taksa ruhte chu a chak lo zauh zauh a.

He natna hi rochun a nih dan kawng thum a awm a.

• Recessive inheritance: Hetiang method-ah hian naupang chuan natna a lo awm theih nan nu leh pa pahnih hnen atangin gene chhia chu a rochun a ngai a ni.
• Dominant inheritance: Hetah hian natna lo awm theihna tur gene chhia chu nu leh pa pakhat a\anga rochun a ngai a ni .
• Sex-linked (X-linked) inheritance: Hei hi a buaithlak deuh. Hmeichhia hian X chromosome pahnih (XX) an nei a, mipa erawh chuan X chromosome pakhat leh Y chromosome pakhat (XY) an nei thung. He natna atana gene chhia chu X chromosome-ah a awm a ni. Mipa hian X chromosome pakhat chauh an nei a, chuvangin a chhiat chuan natna hi a lo awm ngei ang. Hmeichhia hian X chromosome pahnih an nei a, chuvangin pakhat a chhiat chuan a dang X chromosome hrisel tak hian symptom a nei lo thei a, symptoms na lo tak tak a nei thei bawk. Hetiang chi hnih Duchenne leh Becker te hi rochun an ni.

A tlem hle a, he natna hi naupang taksaa random genetic mutation (de novo mutation) avanga lo awm thei a ni a, nu leh pa gene-ah chhiatna engmah a awm lo.

Engtin nge he natna hi i vei tih i hriat theih ang?

Nangmah emaw, i fa emaw hian heng symptoms te hi i nei a nih chuan i tih hmasak ber tur chu doctor tawnhriat ngah tak i pan a ni. Doctor chuan uluk takin a enfiah hmasa ang che a, i natna lan chhuah dan leh chhungkaw chanchin a zawt ang che a, chutah chuan i natna hriat chian nan test thenkhat neih a rawt thei ang.

• Creatine kinase thisen test: Kan taksa ruhte a chhiat chuan thisenah enzyme pakhat creatine kinase an tih chu a chhuah tir thin. Thisenah he enzyme level a san chuan taksa ruh a chhiatzia tilangtu a ni.
• Genetic test: Hengte hian muscular dystrophy nena inzawm gene-ah hian chhiatna a awm leh awm loh chu chiang takin a hriat theih a ni.
• Muscle biopsy: Hei hi taksa peng pakhat atanga tissue te tak te tak te lak a, microscope hmanga enfiah a ni. Hei hian natna chhinchhiahna hriatchhuahna kawngah a pui thei a ni.
• Electromyography (EMG): He test hian taksa peng leh nerve te electrical activity a teh thin.

Engtin nge enkawl leh enkawl a nih?

Sawi hmasa ber leh pawimawh ber chu he natna hi damdawi a la awm lo tih hi a ni. Zirchiangtute chuan an thawk chhunzawm zel a ni.

Natna chi hrang hrang a zirin enkawl dan a inang lo thei. Thil tih tur lian ber berte chu:

• Taksa leh hnathawhna lama enkawlna: Hengte hian taksa ruh a tichak a, a inthlak danglam theihna a tipung bawk. Hei hian a rei thei ang bera mobility vawng reng turin a pui thei a ni.
• Corticosteroids: Prednisolone ang damdawi hian taksa chak lohna a tiziaawm thei a, lung hnathawh a tichak a, ruh hloh a tikhawlo thei a, dam rei thei bawk.
• Mobility aids: Cane, walker, leh wheelchair ang chi device te hian kea kal, kal kual leh tlu lo turin a pui che a ni.
• Surgery: Tight muscles relax emaw, scoliosis siamthat emaw nan surgery neih a ngai mai thei.
• Heart care: Damdawi ACE inhibitor leh beta-blockers te ei hmasak hian heart muscle chhiatna a control thei a ni. Pacemaker ang chi device pawh a ngai mai thei.
• Speech therapy: Hei hian ei harsatna nei te tan a pui thei a ni.
• Thâwk lam enkawlna: Thâwk lama harsatna awmte ṭanpui nân khuh ṭanpuitu hmanrua, thawkna hmanrua, leh a châng chuan assisted ventilation te a ngai mai thei.

Tun hnaiah damdawi thar siam chhuah a ni a, chu chuan natna chi hrang hrangah a kal dan a tidanglam thei a, chu chu Duchenne muscular dystrophy te hi a ni.

He natna nen hian nun hi engtin nge a awm?

He natna hi i dam rei theih hun chhung hi natna chi hrang hrang a zirin a inang lo hle. Entirnan, Duchenne muscular dystrophy (DMD) vei te hi kum 25 an tlin chuan an thi fo thin a, mahse, chi thenkhat, oculopharyngeal muscular dystrophy te hian dam rei zawngah nghawng a nei lo tlangpui. Chuvangin, i dinhmun hriat chian ber chu i enkawltu doctor hi a ni.

Hei hi genetic disease a nih avangin inven dan tur a awm lo. Amaherawhchu, he natna hi i vei a nih chuan, emaw, i chhungkuaa mi pakhatin a vei a nih chuan, i doctor nen fa i neih hmain genetic counseling lak chungchang i sawipui thei ang.

Heng thilte hian natna avanga harsatna lo thleng tur venna emaw, tihkhawtlai emaw a pui thei a, nun a ti awlsam thei bawk:

• Ei leh in tha tak, hrisel tak ei rawh.
• Tui tam tak in la, chu chuan dehydration leh constipation a veng ang.
• A theih ang anga exercise la, i medical team-in an rawt angin.
• I taksa rihna hrisel tak vawng reng rawh.
• Meizial i zuk chuan bansan rawh. I lung leh thinlung a veng thei a ni.
• A hun takah vaccine la rawh.

Hetiang natna nena nun hi nang leh i chhungte tan chuan harsatna a ni thei. Chuvangin, i mamawh damdawi leh enkawlna tha ber i dawng ngei ngei tur a ni. Tin, nangmah ang bawka thil tawn tawhte nena support group-a tel hi rilru chakna nasa tak a ni thei bawk.