I fa hian Tay-Sachs natna a nei em? (Tay-Sachs Disease) - Hemi chungchang hi han sawi ila

Nausen piang thar en ai chuan lawmawm a awm lo. Mahse chu naute chu a lo puitlin a, naute dang ang bawka a rawn inher chhuak a, a ṭhut lo va, a thawm tê tê pawha a harh chuan, nu emaw, pa emawin a hriat hlauhna leh lungkhamna chu ṭawngkam hmanga sawi chhuah a harsa hle. Vawiin hian chutiang nu leh pa thinlung tichhe thei genetic disease hmuh tur awm lo tak kan sawi dawn a, mahse kan hriat chian a ngai a ni. Chu chu Tay-Sachs natna a ni.

A awlsam zawngin Tay-Sachs natna hi eng nge ni?

Tay-Sachs hi genetic disease a ni a, thlah khat atanga thlah dangah a kai darh a, kan naute thluak leh ruhro chhunga neurons te chu a tichhe a, a tawpah chuan a tichhe vek a ni. Kan taksaa factory ang maiin han ngaihtuah teh. He factory hian enzyme bik a nei a, chu chuan bawlhhlawh tul lo (toxic substance) a paih chhuak thin. Tay-Sachs natnaah hian thil thleng chu he enzyme hi siam chhuah a ni lo. Tichuan chu bawlhhlawh, chu chu thil thau tak chu nerve cell chhungah a awm tan ta a ni. Heng toxic substance te hian an khawlkhawm a, nerve cells te chu an tichhe thin.

Hei hi natna zual zel a ni a, a natna lan chhuah dan chu naupang pakhat atanga naupang dangah a zual zel a ni. Lungchhiatthlak takin naupangte hi he natna avang hian kum naupang takah an thi thin. Damdawi a la awm lo. Mahse, a natna lan chhuah dan tihziaawmna tur leh naupang chu a nuam thei ang bera awm tir thei tur enkawlna a awm.

Tay-Sachs natna chi hrang hrangte chu engte nge ni?

He natna hi a lan chhuah tan kum a zirin chi thum ah then a ni. Hriatthiam awlsam zawk nan hetiang hian han thlir ila.

Pawimawh tak chu he natna chi hi chhungkaw chhungah hian thlah khat atanga thlah dangah a kai darh zel a, chutiang bawk chuan a kai darh zel a ni. Entirnan, naupang pakhatin infantile form a neih chuan chhungkaw naupang dangte chu late-onset form an neih theihna tur hlauhawm an ni lo.

Tay-Sachs natna lan chhuah dan chu engte nge ni?

Naupang kum leh natna chi hrang hrang a zirin symptoms a inang lo. Nausen laia symptom chi hrang hrang hmuh tam ber (Classic Infantile) chungchang kan sawi dawn a ni.

Classic Nausen natna lan chhuah dan

• A lan chhuah hmasak ber (thla 6 vel):
• Muscle chak lohna.
• Rolling over, thut, emaw crawling emaw harsatna.
• Thawm ri nasa tak chuan hard jolt a siam a.

• Natna zual zel lai (kum hma lam):
• A duh loh zawnga taksa ruh hring (myoclonic jerks).
• Seizures a awm thin.
• Chaw ei harsa (dysphagia).
• Mit leh hriatna hloh zauh zauh.
• Doctor-in mit a enfiah chuan mit retina-ah cherry-red spot a hmu a. Hei hi he natna ziarang a ni.
• Thluak lam natna (e.g. pneumonia) awm fo thin.

Kum hnih a tlin meuh chuan he natna hian naupang chu a thunun kim tawh a ni. Naupang chu chhanna nei lo dinhmunah a lut thei. Chumi awmzia chu thluak hnathawh tam zawk a bo tihna a ni. Lungchhiatthlak takin heng naupangte hi kum 2 leh 4 inkar velin an thi tlangpui a, an thih chhan chu natna khirh tak, pneumonia ang chi a ni fo.

Naupan lai leh puitling laia natna lan chhuah dan

Hengte hi a tlem hle a, a tawi zawngin han thlir ila.

• Juvenile: A lan chhuah dan chu taksa ruh chak lohna, tawng harsa, thil zir theihnghilh, nungchang inthlak danglam, leh seizures te a ni.
• A hnu lama lo awm:Muscle chak lo leh khur, kal harsa (ataxia), tawng leh ei harsa, rilru lama harsatna (psychosis) te a awm thei.

Engvangin nge hetiang hi a lo awm? Eng nge a chhan?

Tay-Sachs natna hi gene pakhat HEXA -a mutation avanga lo awm a ni. A awlsam zawngin, gene pakhata inthlak danglamna tlemte a ni.

Heng genes te hian kan taksa chhunga cell tin te hnenah thupek an pe thin. HEXA gene hian kan sawi tawh ang khan enzyme `hexosaminidase A` siam dan tur thupek a pe a. Gene chu a inthlak danglam chuan he enzyme hi a lo piang lo. Tichuan, chu thau thau thau (toxic fatty substances) te chu nerve cell-ah an pungkhawm a, an tichhia a ni.

Engtin nge hei hi naupangin a rochun theih ang?

Hei hi hriatthiam a buaithlak deuh a, mahse a pawimawh hle. Tay-Sachs natna hi autosomal recessive pattern-a rochun a ni. Chumi awmzia chu naupangin natna a neih theih nan he mutated HEXA gene hi an nu leh pa hnen atangin a rochun a ngai tihna a ni.

Hetiang hian han ngaihtuah teh. Mi tin hian gene tin copy pahnih kan nei vek a. Pakhat chu an nu hnen atangin, pakhat chu an pa hnen atangin.

• Tu nge carrier?: Carrier chu HEXA gene copy pakhat hrisel nei leh copy dang mutated nei mi a ni. Heng mite hian natna hi an nei lo va, symptom an lantir lo bawk a, a chhan chu gene copy hrisel tak hian enzyme mamawh a siam a ni. Mahse, chu mutated gene chu an fate hnenah an pe chhuak thei a ni.

Tunah chuan, nu leh pa pahnih hi carrier an nih chuan naupang chungah eng nge thleng thei tih hi han en teh :

• Naupangin nu leh pa pahnih atanga gene hrisel chauh a rochun theihna chance 25% (pali zinga pakhat) a awm. Tichuan naupang chu a hrisel ang a, phurtu a ni lo ang.
• Naupang hian nu leh pa pakhat hnen atangin mutant gene a dawng ang a, nu leh pa dang hnen atangin gene hrisel tak chu a dawng thei ang . Chumi hnuah chuan naupang chu carrier a ni ang a, mahse natna chu a nei lo ang.
• Naupangin nu leh pa pahnih atanga mutated genes pahnih hi a rochun theihna chance 25% (pali zinga pakhat) a awm . Chu naupang chuan Tay-Sachs natna a vei dawn a ni.

Engtin nge natna hi kan hriat theih ang?

Doctor-in Tay-Sachs natna a rinhlelh chuan thisen test an ti ber ang a, a finfiah ang.

• Thisen test: Naute thisen sample lak a ni a, enzyme pakhat `hexosaminidase A` an tih level an teh thin. Tay-Sachs natna vei naute hian he enzyme hi a hniam hle emaw, a nei lo emaw a ni.
• Mit enfiah: Doctor chuan naupang mit a enfiah ang a, a hmaa kan sawi tawh cherry-red spot chu a enfiah ang.

Hei hi naupai lai hian hmuhchhuah theih a ni em?

Awle. Naupai lai hian he natna hi a hmaa hriat theihna tur special test pahnih a awm a. Hengte hi natna vei theihna sang tak nei nu leh pa tan tih a ni tlangpui.

1. Amniocentesis tih dan tur: 1. Amniocentesis:Nausen pum chhunga naute hual vel amniotic fluid sample lak a ni a, test a ni.

2. Chorionic Villus Sampling (CVS): Nausen atanga tissue te tak te tak te lakchhuah a, enfiah thin a ni.

Heng test pahnihte hian enzyme `hexosaminidase A` level an en a. Chu level chu a hniam chuan naupangin natna a vei tih hriat theih a ni.

Naupang enkawl leh enkawl dan

Hei hi i hriat theih nan phurrit lian tak a ni ngei ang tih ka hria. Tay-Sachs natna hi damdawi a la awm lo . Amaherawhchu, i fain natna leh lungawi lohna a neih tlem theih nan leh a nuam thei ang bera a awm theih nan thil tam tak i tih theih a awm. Hei hi supportive care an ti a .

• Thâwk lama harsatna: Heng naupangte hian ei harsa an nei thei a, chu chuan lung natna a thlen fo thei a ni. Damdawi te, hmanraw bik te, leh naupang dinhmun dik taka dah te hian a pui thei a ni.
• Nutrition: Chaw ei harsatna a pun zel chuan feeding tube a ngai mai thei.
• Seizures: Seizures control nan damdawi pek thin a ni.
• Sensory stimulation: Naupang hriatna panga chu a tlêm avângin, music nêm, rimtui leh infiamna nêm ang chi thilte chuan naupang chu thlamuanna a pe thei a ni.

Engtikah nge Doctor i hmuh a ngaih?

• Fa neih i tum a nih chuan: Fa i neih hmain genetic counseling i lak a pawimawh hle a, a bik takin nangmah emaw i kawppui emaw hian chhungkaw history-a Tay-Sachs natna vei in neih chuan, emaw, in pahnih hian carrier in ni thei tih in rinhlelh chuan. Hemi chungchangah hian doctor hnenah thurawn zawt rawh.
• Naupai lai: I naute hriselna chungchangah rinhlelhna emaw, lungkhamna emaw i neih chuan doctor pan nghal rawh.
• I fate hmasawnna kawngah harsatna i hriat chuan: I fain a kum lama a tih tur thil (rolling over, thut ang chi) a ti lo tih i hriat chuan i pediatrician hnenah chu chu sawipui rawh.

Tay-Sachs hi thinlung ti na tak tak diagnosis a ni. Mahse, chu chu kan hriat chian a, a hlauhawmna kan hriatthiam a, a tul chuan genetic test hmasa ber kan zawn hian nakin lawka thinlung natna kan veng thei a ni.