I naute hian heng symptoms te hi a nei em? Prader-Willi Syndrome chungchang hi han sawi ila

I naupang tê chu a pian tirh lai khan a chau hle em, nunna nei lo, hnute pek harsa tak a ni em? Mahse, a lo upa deuh deuh a, kum hnih emaw kum thum emaw vel a nih chuan ei duhna danglam tak leh ei duh lohna a lantir tan em ni? Heng inthlak danglamna te nen hian tlem chuan i lungkham a, i hlau deuh mai thei. Vawiin hian heng symptoms langsar tak, genetic condition hmuh tur awm lo tak, kan ramah hian mi tam takin an hriat ngai loh, mahse hriat a pawimawh em em chu kan sawi dawn a ni. Chu chu Prader-Willi Syndrome a ni.

Prader-Willi Syndrome (PWS) hi eng nge ni?

A awlsam zawngin sawi ila, Prader-Willi syndrome (PWS) hi pian tirh atanga lo awm thin, genetic condition hmuh tur awm lo tak a ni. Naupang metabolism a nghawng a, chu chuan kan ei tur chu chakna ah a chantir thin. Naupang thanlenna leh nungchang a nghawng bawk.

Hetiang dinhmunah hian stage lian pahnih hmuh tur a awm.

1. Early Infancy: Naute taksa ruhte hi nunna nei lo emaw, taksa ruh tone hniam tak emaw a ni. Hei hian hnute pek a ti harsa hle. Naute chu a muhil thei a, a chau thei bawk.

2. Naupan lai: Kum 2 leh 6 inkarah hian thil danglam tak a thleng thin. Chu chu naupang chuan thunun theih loh, ei duhna lutuk a nei tihna a ni. Eng ang pawhin ei mah se, a chawl lo. Hetiang ei tam lutuk hi thunun a nih loh chuan naupang chu nasa takin a thau thei a ni.

Hêng chhinchhiahna lian ber berte bâkah, naupang chuan a kum anga a ṭhanlenna tûr thil pawimawh tak tak, hrual, kea kal, leh thusawi ang chite chu a tlachham thei a ni. Puberty pawh a tlai thei bawk. Uluk taka enkawl a nih loh chuan thau lutuk hian nunna atana hlauhawm harsatna, thinlung natna, zunthlum, leh mutthilh theih lohna te a thlen thei a ni.

He natna hi tuin nge vei? Engtiang chiahin nge a hluar?

Hei hi genetic condition a ni a, tu pawh a nghawng thei a ni. A tam ber chu nu leh pa hrik cell siam chhuah atanga lo awm random genetic change vang a ni. Chumi awmzia chu nu leh pa sualna engmah vang a ni lo tihna a ni. A tlem hle a, chhungkaw zinga mi tu emaw chuan he natna hi a nei tawh a nih chuan thlah kal zelah a lo darh zel theihna chance tlemte chauh a awm.

A hluar em em a, khawvel puma mi 10,000 atanga 30,000 zinga pakhat velin Prader-Willi syndrome hi a vei a ni. Hei hian a awmzia chu a awm lo hle tihna a ni.

Prader-Willi syndrome natna lan chhuah dan chu engte nge ni?

Heng symptoms te hi mi hrang hrangah a inang lo thei a, mahse symptoms tlanglawn thenkhat a awm. Hetiang hian chiang zawka hriat theih nan category hrang hrangah i dah ang u.

Engvangin nge hetiang dinhmun hi a lo awm? Genetic cause chu eng nge ni?

Hei hi a buaithlak deuh a, mahse awlsam taka hriatthiam tum ila.

Kan cell tin hian genetic information package khat kan nei vek a. Heng chromosome te hi kan ti a ni . Chung chromosomes zinga 23 chu kan nu hnen atangin kan hmu a, 23 chu kan pa hnen atangin kan hmu bawk. Prader-Willi syndrome hi kan pa hnen atanga kan hmuh chromosome 15 part-a harsatna avanga lo awm a ni.

Hetah hian thil danglam tak a thleng thin. `(genomic imprinting)` tih a ni. A awlsam zawngin, chromosome 15-a gene thenkhatah chuan pa atanga copy chu ‘on’ a ni a, nu atanga copy chu ‘off’ a ni. He ‘on’, chu chu pa hnen atanga active copy lo chhuak hi taksa hnathawh that nan a pawimawh hle tihna a ni . PWS ah chuan pa hnen atanga he active copy hian a function a hloh thin.

Hei hi chhan lian tak pathum a awm thei.

He natna hi engtin nge doctor hian a hriat theih ang?

I fate natna lan chhuah dan tur ngaihtuah vanga Doctor i pan chuan a tih hmasak ber tur chu i fate taksa enfiahna uluk tak neih tir hi a ni. I fa pianphung, taksa ruh leh nungchang te uluk takin a en ang. Tin, i fate ei leh in dan leh hmasawnna tlai dan te pawh a zawt ang che.

Doctor hian heng symptoms atanga PWS a rinhlelh chuan genetic test a ti ang a, a finfiah ang.Hei hi naupang thisen sample lak a a DNA a inthlak danglamna hriatchhuah hmanga tih thin a ni tlangpui .

Engtin nge enkawl a nih? Tihdam vek theih a ni lo em ni?

Dik tak chuan Prader-Willi syndrome hi damdawi a la awm lo. Mahse, lungngai suh. Damdawi tam tak a awm a, chu chuan natna lan chhuah dan a enkawl thei a, harsatna a thlen loh nan a pui thei a, i fa chu nun tha tak a nei thei bawk. Enkawlna atana thil tum berte chu:

• Nutritional management: Naute chu nausen laia bawnghnute in tur atana hmanraw bik, bottle nipples ang chi te hman theih a ni. I naute a lo upat deuh deuh chuan calorie tlem, balanced diet pek a pawimawh a, ei tur a ei zat kha khauh taka control a pawimawh bawk. A châng chuan, in lama cupboard leh refrigerator ang chi thilte pawh khar a ngai mai thei.
• Hormone therapy: Growth hormone hi naupang thanlenna tur atana pek a ni. Puitlin chhoh zel chuan mipa naupangte chu testosterone pek a ngai mai thei a, hmeichhiate pawhin estrogen an mamawh thei bawk.
• Therapies \anpuitu: 1.1.
• Physical therapy: Taksa chakna leh balance tichak turin a pui.
• Speech-language therapy: Thusawi harsatna hneh turin a pui.
• Zirna bik: Naupang rilru chakna nena inmil zirlai thiltih hrang hrangte tanpui.

Ka fa hian PWS a neih chuan hmalam hun eng ang nge ni ang?

Nu leh pate hian he natna hi an hriat hian an mangang leh hlauhthawn hi thil pangngai a ni. Mahse, hre reng ang che, a hmaa hriat chhuah leh enkawl leh puihna kalpui zel a nih chuan PWS vei naupangte chuan nun pangngai an hmang thei a ni.

Ni e, harsatna a awm. School hnathawhnaah tanpuina dang an mamawh dawn a ni. An dam chhungin level engemaw chen tanpuina an mamawh dawn a ni. Mahse, a theih ang anga mahni inrintawkna nei tur leh an theihna zawng zawng hmang tangkai turin tanpui theih an ni bawk.

I fate tana ei tur ruahmanna siam turin nutritionist nen inhmuh a pawimawh a, rilru lam hriselna counselor hnen atangin thurawn lak a pawimawh bawk . Tin, nangmah ang bawka thil tawn nei nu leh pa dangte nen support group-a tel ve chu chakna nasa tak a ni ang.

Doctor hnenah eng zawhna nge i zawh tur?

Doctor hmu tura i kal hunah heng zawhnate hi zawh theihnghilh suh.

• Ka fa thau lutuk lo turin eng nge ka tih ang?
• Naupangin eng enkawlna nge a mamawh? Engtin nge pek an nih?
• Ka fa lakah hian eng nungchang lama harsatna nge ka beisei theih ang?
• Hetiang dinhmun neia nunpui tura tanpuina kan pan theih tur support group an awm em?
• Ka chhungkaw dangte hian genetic testing an neih a ngai em?

I fain natna hmuh tur awm lo, tihdam theih loh a nei tih i hriat chuan i rilru a buai tih hi thil pangngai a ni. Mahse, nangmah chauh i ni lo. I fa medical team chuan i mamawh tanpuina leh kaihhruaina an pe ang che. I fa hian naupang dangte aiin hun leh tanpuina tlem a mamawh zawk mai thei. Mahse enkawlna dik tak nen chuan i fa pawh a hlim thei bawk.