I fa hian heng symptoms te hi a nei em? Canavan Disease chungchang hi han sawi ila

I fa naupangte hmasawnna chungchangah rinhlelhna emaw hlauhna emaw i nei em? A châng chuan kan naute hi naute dang aiin tlem a danglam deuhin, emaw, an thanlenna a tlai deuh hian thil hrang hrang kan ngaihtuah thin. Hetiang hunah hian fimkhur a pawimawh hle. Vawiin hian hetiang khawpa rare, mahse serious genetic disease chungchang kan sawi dawn a ni. Hei hi Canavan Disease an ti a.

Canavan Disease hi eng nge ni? A awlsam zawngin...

Canavan Disease hi genetic disease a ni a . Kan thluak hi direct in a nghawng a ni . A dik tak chuan neurodegenerative condition a ni. Chu chu hun kal zelah thluaka thil dik lote chu a pung zauh zauh a, a na zual zel tihna a ni. Ngaihtuah teh, kan thluak hian a hnathawh that theih nan chemical pawimawh thenkhat a mamawh a ni lawm ni? Awle, he natna hi a lo awm chuan thluak hian chemical pawimawh tak a tlachham ta a ni. Chuvângin, thluak chu zawi zawiin sponge , lehkha phek ang mai a lo ni ta a ni. Tichuan thluak hian a hna a thawk tha thei lo.

Canavan natna hi natna pawl pakhat ``leukodystrophies.`` an tih zinga mi a ni.Hengte pawh hi a tlem hle a, genetic natna an ni bawk. Kan thluak, ruh (spinal cord) (chu chu ruh chhunga nerve cord) leh nerve dangte a nghawng a ni. Thil lungchhiatthlak tak chu, heng symptoms te hi hun kal zelah a na zual zel a ni.

Canavan Disease chi hrang hrangte chu engte nge ni?

He Canavan natna hi chi hnih lian takin kan hmu thei. Chu chu natna intan hun leh a nasat dan azirin a thliar hrang tihna a ni.

1. Nausen Canavan natna:

Hei hi a tam ber a ni a , a na ber bawk . Canavan natna vei naute tam zawk chuan hetiang chi hi an nei thin. Lungchhiatthlâk takin, he natna neia piang naute hi naupan lai emaw, puitling tleirawl emaw an thi fo ṭhîn.

2. Naupang Canavan natna: 1.1.

Hetiang chi hi a hma chi aiin a tam lo zawk a, a na lo zawk bawk . A symptoms chu chutiang chuan a na lo. A tha ber chu he chi hian mi dam rei zawng a ti tawi lo niin a lang.

Tute nge Canavan Disease vei theihna sang zawk?

Dik tak chuan Canavan natna hian tu pawh a nghawng thei . Genetic condition a ni. Mahse, hnam thenkhatah chuan a tam zawk. A bik takin Ashkenazi Judate zingah a tam zawk a, Poland hmar lam, Lithuania leh Russia chhim lam atanga lo kal an ni. Chung zingah chuan nausen piang 6,400 atanga 13,500 zinga pakhat chu he natna hian a vei nia chhut a ni.

Mahse hriat reng tur pawimawh tak chu hei hi thlahtu natna a nih avangin nu leh pa pahnihin natna thlentu gene hi an keng tel a nih chuan eng chi pawh, eng ram pawha fate pawhin he natna hi an vei thei a ni.

Engvangin nge Canavan Disease hi a lo awm? Eng nge a chhan?

A awlsam zawngin sawi ila, Canavan natna hi thlahtute atanga lo chhuak natna a ni . Chu chu nu leh pa atanga fate rochun a ni tihna a ni.

Hei hi a chhan ber chu kan gene pakhata mutation vang a ni. He gene hian enzyme pakhat aspartoacylase (ASPA) tih a siam chhuak thin. He ASPA enzyme hi kan thluaka hnathawk bik angin han ngaihtuah teh. A hna chu N-acetyl-aspartate (NAA) tih chemical tihchhiat a ni. He chemical hi thluaka awm a ni.

Tunah chuan Canavan natna veiah chuan taksain he `ASPA` enzyme hi a siam chhuak tawk lo . Chuti a nih chuan eng nge thleng? Chu chemical `NAA` chu thluak tissue-ah a khawlkhawm tan ta a ni. Factory atanga bawlhhlawh paih ang mai a ni. Hetianga `NAA` a punkhawm hian kan thluak leh ruhro chhunga nerve vel venhimna khuh ang maia awm `myelin` an tih fatty layer chu a tichhia a ni. He myelin hi electric wire chhehvela plastic sheath ang a ni a, nerve message kal dan tur a pui a, nerve te a chawm bawk.

Chuvangin, he myelin hi a chhiat chuan hun kal zelah thluak chu spongy a lo ni a, liquefies a ni . Chu chu thluak chhungah hian hmun tlemte tam tak, tuiin a khat tihna a ni. Tin, thluak hian nerve message a thawn thei lo va, a dawng thei lo bawk. Hetiang thil a thlen dan hi i hrethiam em?

Canavan Disease natna lan chhuah dan chu engte nge ni? Engtin nge a hriat chhuah?

Infantile Canavan Disease hi thla 3 leh thla 6 inkar atanga a lan chhuah tan tlangpui . Heng symptoms te hi a lang nghal lo va, zawi zawiin a lang thin. Nu leh pa in nih angin hei hi in hre reng tur a ni.

Hmuh theih thil langsar ber berte chu:

• Muscle abnormalities: Hei hian a châng chuan naute taksa chu a hlim hle emaw, a danglam bîk takin a tight thei tihna a ni . A bik takin taksa ruh chakna a tlahniam thin. A châng chuan, naute chu i chawi chhuah hian "puan chhe tawh ang maiin" a inhria thei.
• Lu lian lo (macrocephaly): Naute lu chu a kum a zirin a lian lo hle . Tin, naute hian a lu dik taka thunun harsa a ti bawk. A kawr chu a chelh tha thei lo ta a ni.
• Hmasawnna tlai: Hei hi nu leh pa tam takin an hriat hmasak ber a ni. Naute dangte tih ang thil, inher, thut, hrual, kal, leh inbiakna te chu an ti thei lo mai thei.Heng naute hian thil an ti tlai hle mai thei a, thil engemaw chu an ti lo tak tak thei bawk. Entirnan, nausen dangte chuan thla 6-7 vela ṭhut an tum laiin, heng naute hian an ti thei lo mai thei.
• Ei leh ei harsatna: Naute hian bawnghnute in leh chaw ei harsa a ti thei. A rilru a buai reng angin a inhria mai thei.
• Motor thiamna tlakchham: Taksa chetna thunun theihna a tlahniam. A bik takin, ke leh ke ruhte uluk taka thunun theih lohna. Hei hi "floppiness" an ti \hin a, chu chu taksa chu a limp tihna a ni.
• Ngawi reng, chhanna pe lo: Naute chu a ngawi reng hle. Toy i pe a nih pawhin a ngaihven lo. Emotion leh interest a lantir lo . A nui tlem a, a tap tlem a, a nih loh leh thil dangin a awm reng bawk.

Naupang tam tak chu heng symptoms nei te hi an na zual nghal vat thin . Kum 10 an tlin chuan nunna atana hlauhawm harsatna a lo awm thei a. Chu bakah, he natna nen hian harsatna dang a awm thei bawk.

• Hriatna hloh
• Thinlung lama harsatna nei
• Muscle spasms a awm thin
• Chaw ei harsatna a pung
• Mit hmuhna hloh

Mahse, a hmaa kan sawi tawh ang khan naupang Canavan natna, kum naupang tak atanga lo lang thin te chuan chutiang natna na tak chu an lantir lo. Hmasawnna lama tlai deuh pawh an nei thei bawk. Thusawi harsa an nei thei a, sikul hnaah naupang dangte hnufual deuh pawh an awm thei bawk. Mahse, a symptoms chu chutiang chuan a na lo.

Engtin nge Canavan Disease i vei tih chiang taka i hriat theih ang?

I doctor chuan i naute natna lan chhuah dan a zirin Canavan natna a rinhlelh chuan test eng emaw zat an kalpui thei a, chu chu finfiah theih a ni.

• Thisen emaw zun emaw test: Heng test te hian a hmaa kan sawi tawh chemical `NAA` (N-acetyl-aspartate) emaw enzyme `ASPA` (aspartoacylase) emaw level a teh thei a ni. Tin, natna thlentu genetic mutation a awm leh awm loh an hre thei bawk.
• Skin cell test (cultured fibroblasts): A chang chuan naute vun atanga lak chhuah cell chi khat bik (cultured fibroblasts an tih) chu laboratory-ah an tipung a, enzyme ASPA tlakchhamna an enfiah thin.

Mak tak mai chu naute pian hma pawhin Canavan natna a awm leh awm loh hriat theih a ni .

• Amniocentesis: Hei hi naupai laiin naute hualtu tui (amniotic fluid) sample tlemte lak a, NAA level test a ni. He test hi nangmah ngeiin i ti tlangpui.Naupai kar 15 leh kar 20 inkar.
• Chorionic Villus Sampling (CVS): He test hi nu leh pa, Canavan natna vei theihna sang tak nei emaw, an chhungkuaa mi pakhatin gene mutation a nei tih hre emaw tan a ni. He test-ah hian naute placenta atanga tissue sample lak a ni a, gene mutation a awm leh awm loh test a ni. Hei hi naupai kar 10 leh kar 12 inkarah tih a ni tlangpui.

Heng test chungchang hi i doctor nen inbiain i hre belh thei ang.

Canavan Disease enkawlna tur a awm em?

Dik tak chuan Canavan natna hi damdawi a la awm lo . Hei hi a lungchhiatthlak ber a ni. Chuvangin tuna enkawlna hman mekte tum ber chu a natna lan chhuah dan thunun a, naupang chu a theih ang anga rei hahdam taka awm tir hi a ni.

Tuna enkawlna kawng hrang hrangte chu:

• Feeding tubes: Heng tube te hi naupangin ei tur a ei harsat hunah ei leh in mamawh leh tui pekna atan hman a ni. Hei hian naupang chu an mamawh chakna a pe a ni.
• Anticonvulsants: Naupang thenkhat chuan seizures an nei thei. Chutiang hunah chuan doctor-te chuan an thunun theih nan damdawi an pe thin.
• Physical therapy: Hei hian naupang dinhmun siam\hat nan a pui a, taksa ruh a tichak a, inbiakpawhna thiamna a tipung bawk.

Tin, chhungkaw pum tan genetic testing leh genetic counselling hi a pawimawh hle bawk. Hemi hmang hian nakin lawkah naupang dang a lo piang a nih chuan chu naupang pawhin he natna hi a vei theih dan tur chu hriatthiam theih a ni ang.

Canavan Disease vei naupang tan hmalam hun eng nge awm ang?

Canavan natna vei hmalam hun chungchang sawi dawn chuan natna chi hrang hrangah a innghat a ni. Chu chu infantile type emaw, juvenile type emaw pawh nise tihna a ni.

• Naupang nausen Canavan natna vei te hi kum 10 vel an nih thlengin an dam tlangpui. Naupang ṭhenkhat chu an tleirâwl emaw, kum sawmhnih hma emaw thlengin an dam thei a ni.
• Mahse, Canavan natna na lo, tleirawl tak nei te dam rei zawng chu a tlangpuiin a pangngai a ni.

Thu lawmawm tak chu scientist ten Canavan natna thlentu gene an hmuchhuak ta a ni. Tin, he natna enkawlna tur zawngin zirchianna tam tak kalpui mek a ni bawk. Chung zinga ṭhenkhat chu:

• Gene therapy: Hei hian gene chhia siamthat a tum a.
• Synthetic ASPA enzyme: He enzyme hi thisenah inject theih tura duan a ni.
• Stem cell hmanga enkawlna:Hei pawh hi beiseina thar a ni.

He zirchianna hi a hlawhtlin chuan cancer vei te hian nakin lawkah nun tha zawk an neih theihna hun remchang an nei dawn a ni.

Canavan Disease hi ven theih a ni em?

Dik tak chuan Canavan natna hi genetic condition a nih avangin ven theih a ni lo . Mahse, chhungkaw tinte chuan DNA test an nei thei a, natna thlentu gene mutation an keng tel em tih hriat theih a ni. A pawimawh ber chu nu leh pa pahnihin gene mutation an keng tel chauhvin an fain natna hi a nei ang.

Chuvangin, hetiang test neih hian fa an neih hmain thutlukna dik siam turin a pui thin.

Heng thilte hi Doctor hnenah zawt rawh.

I fain Canavan natna a vei tih i hriat chuan i rilruah zawhna tam tak a awm chu thil pangngai tak a ni. I doctor hnenah hetiang thil hi zawh a pawimawh:

• "Doctor, ka fa hian eng ang rualbanlo nge a neih ang? Engtikah nge ka beisei ang?"
• "Doctor, ka naute dam chhung hi eng nge min hrilh theih ang?" (He zawhna hi zawh harsa tak ni mahse, ngaihtuahna engemaw zat neih a pawimawh thei.)
• "Ka naute hi nuam leh him zawka siam turin eng nge ka tih theih ang?"
• "Ka fa hian eng ang specialist nge a hmuh ang? Engzat nge hmuh tur?"
• "Kan chhungkaw dang zawng zawng tan genetic testing neih hi thil tha tak a ni em?"

Heng zawhna bakah hian doctor hnenah i neih apiang zawt hreh suh, eng ang pawhin tlem pawh nise.

I fain Canavan Disease a neih hian nu leh pa angin engtin nge in hmachhawn thin?

Hetiang dinhmun khirh tak i hmachhawn dawn hian nangmah chauh i ni lo tih hriat reng a pawimawh. Thil engemaw zat a awm a, hei hian a pui thei che a ni:

• Counselling / Talk therapy: I rilru put hmang, lungngaihna leh hlauhna ang chi i sawipui theih tur i biak chuan hahdamna nasa tak a thlen thei a ni.
• Support groups: Nangmah ang bawka thil tawn tawh nu leh pa dangte nena inbiakna neih hi chakna petu ropui tak a ni thei. "Hetiang hi keini chauh hi kan tawk lo" tih hriatna a pe che a ni.
• Damlo leh zirchianna thlawptu pawlte zawm rawh: Heng pawlte hian thu hriatna, kaihhruaina leh midangte nena inzawmna hun remchang an pe che a ni.

I rilru hriselna pawh a pawimawh hle tih hre reng ang che. I chak phawt chuan i fa chu i enkawl tha thei ang.

A tawp berah chuan hriat reng tur pawimawh ber ber (Take-Home Message) .

Canavan Disease hi genetic disorder awm lo, na tak a ni a, thluaka white matter a nghawng a ni. He thu i hriat hian i rilru hah lutuk hi thil pangngai tak a ni. Mahse, nangmah chauh i ni lo.. I fa mamawh enkawlna leh enkawlna chungchang chu i doctor nen sawiho rawh. Tin, DNA test hi chhungkaw tan a tha em tih zawt bawk ang che.

He natna hi na tak leh nunna atana hlauhawm tak ni fo mah se, scientist-te’n enkawlna thar an zirchian chhunzawm zel chu beiseina tlemte a ni. Beiseina hloh suh. Nang leh i fate chakna an mamawh chu duhsakna kan hlan a che u.

` Canavan natna, Genetic Diseases, Thluak Natna, Naupan lai natna, Neurological Diseases, Developmental Delay, ASPA, NAA, Myelin, Genetic Testing