Batten Disease hi eng nge ni? I fa chungchanga i hriat tur chu

A châng chuan kan naupang tête chunga natna lo thleng kan hmuh hian kan hlauthawng hle a ni lawm ni? A bik takin chu natna chungchang chu kan hre tam lo a nih chuan. Vawiin hian kan sawi dawn a, chu chu a tlem berah chuan a awm lo hle a, mahse nu leh pa kan nih angin kan hriat chian tur a ni. Hei hi Batten Disease an ti a.

A awlsam zawngin sawi ila, Batten Disease hi kan fate thluak cell-a bawlhhlawh awmkhawmna hmun, genetic condition pawl a ni. A hun taka kan chhuah loh chuan kan in chhunga bawlhhlawh a lo awm khawm ang chiah hian thluak cell-ah pawh hetiang hi a thleng thin. He bawlhhlawh hian thluak cell awm dan leh hnathawh a tichhe a, chu chu doctor-te chuan neurodegeneration an ti a ni. A tawpah chuan heng cell te hi an thi ta a ni. Hei hi thil lungchhiatthlak tak a ni a, a chhan chu Batten Disease hi a thihpui thei a ni.

I doctor chuan he natna hi ``Neuronal Ceroid Lipofuscinosis (NCL)`` tiin a sawi thei bawk. Chu chu a damdawi lam hming a ni.

Batten natna chi hrang hrangah hian a lan chhuah dan tlangpui thenkhat a awm a. Entirnan, seizures, mit hmuhna hloh zauh zauh, leh naupang ngaihtuahna leh ngaihtuahna inthlak danglam (cognitive problems). Heng symptoms te hi nausen te, naupan lai te, puitling te atanga intan a ni thei. Heng symptoms te hi kum upat deuh deuh hian a na zual zel thin.

Hei hi damdawi kimchang a la awm lo a, chuvangin doctor-te chuan a natna lan chhuah dan chu thunun an tum a, naupang chu nunphung tha ber pek an tum a ni.

Batten Disease chi hrang hrang a awm em?

Ni e, tunah hian Batten natna chi hrang hrang 14 hriat a ni. Chungte chu natna lan chhuahna kum a zirin an thliar hrang a ni. Naupang thenkhat chuan nausen lai atanga chhinchhiahna an lantir tan a, thenkhat chuan nausen hnu lamah emaw, thenkhat chu naupan lai atang te, a nih loh leh tleirawl lai pawhin an lantir tan thin.

Heng chi hrang hrangte hming hi `CLN` tih hawrawp pathum hmanga tan a ni. Chu chu `(Ceroid Lipofuscinosis, Neuronal)` tihna a ni. Chu chu a nghawng gene hming a ni. Tichuan 1 atanga 14 thleng number a rawn dah belh leh a.

Chung zinga a tam ber chu `CLN3` tih chi hi a ni. Hei hi `(juvenile Batten natna)` an ti bawk. `CLN3` symptoms hi kum 5 leh 15 inkar atanga tan a ni tlangpui.

He natna hi engtiang chiahin nge a tlem?

Hei hi a takah chuan natna hmuh tur awm lo tak a ni. Doctor-te sawi dan chuan America ang ramah hian nau piang thar 100,000 zinga 3 vel chu he natna hi a lo awm theihna chance a ni. Chumi awmzia chu Sri Lanka ramah pawh he natna hi hmuh tur a tlem hle tihna a ni.

Batten Disease symptoms te chu engte nge ni?

Kan sawi tawh ang khan Batten natna chi hrang hrang awm mah se, a tam zawkah chuan a lan chhuah dan hi a awm fo thin. Mahse, heng natna lan chhuahna kum hi a inang lo thei hle. A lan chhuah hmasak ber tur chu :

• Zawi zawiin mit hmuhna a tlahniam.I fa chuan thil hriat harsa tak a nei a, a nih loh leh thil a tawk reng tih i hmu mai thei bawk.
• Naupang nungchang leh mizia a inthlak danglam thut. Tûn hma aiin an rilru a khauh lehzual thei a, an thinrim a awlsam zâwk thei a, hmân lai thil nuam an tihte chu an ngaihven tawh lo thei bawk.
• Kal emaw tlan lai emawa balance hloh leh kut leh ke thunun harsa (clumsiness). Naupang chu an tlu reng ang maiin a lang thei.
• Seizures a awm thin.

Heng bakah hian symptom dang a lo lang thei bawk. Anni chu:

• Thil ngaihtuah thiamna, ngaihtuah thiamna leh hriatthiamna tlahniam (cognitive function) .
• Thusawi harsa. Thusawi ṭan chu an zawi thei a, an bengchheng thei a, a nih loh leh thumal emaw, thumal inang emaw an sawi nawn leh thei bawk.
• Tremor, duh loh vanga taksa ruh inzawm (tics, muscle spasms), emaw taksa peng pakhat a hrual nghal (myoclonus) emaw.
• Thil thleng tawhte hriatreng harsa, tar huna hriatrengna hloh (dementia) ang chi.
• Thil awm tak tak lo hmuh emaw hriat emaw (hallucinations) emaw, thil tak tak nena inzawm lo taka thil tih emaw (psychosis).
• Mut harsatna a awm. Mut harsatna emaw, harh fo emaw i nei thei.
• Muscle stiffness leh rigidity, bending leh stretching harsa (muscle spasticity leh rigidity).
• Kut leh kea chakna tlahniam.
• Lung natna, lungphu mumal lo (arrhythmia) ang chi hi a awm thei a, a bik takin tleirawl leh tleirawlte zingah a awm thei.

Ngaihtuah teh, Batten natna vei naupangte hi a tir lamah chuan naupang dang ang bawkin an lo seilian thin. Hmasawnna atana thil pawimawh zawng zawng, crawling, walking, talking, leh mahni chauha ei leh in te hi an paltlang vek a ni. Mahse, chutih lai chuan, rang takin chu hmasawnna chu a tawp ta a, an thil zir chu an theihnghilh a, an ti thei lo. A bik takin naupang kum naupan lai atanga an natna lan chhuah tan chuan an natna hi a zual nghal vat thin.

Engvangin nge Batten Disease hi a lo awm? A chhan chu eng nge ni?

A awlsam zawngin, hei hi kan genes inthlak danglamna, gene mutation avanga lo awm a ni. He ``CLN`` gene hian kan cell chhunga bawlhhlawh lo awmte chu a tichhia a, a paih chhuak thin. Kan in chhunga bawlhhlawh paih chhuaktu ang bawk khan.

Chuvangin, he `CLN` gene-ah hian chhiatna emaw, mutation emaw a awm chuan naupang taksa chuan he cellular waste hi uluk takin a paih chhuak thei lo. Tichuan he bawlhhlawh – hengte hi lipid, sugar, protein, etc. te hi cell chhungah a awm khawm tan ta a ni. Heng bawlhhlawh tam zawk hi thluak cell-ah a awm khawm thin.

He bawlhhlawh hi a lo awm khawm chuan naupang taksa peng thenkhat chuan hna a thawk tha tawh lo. A bik takin nervous system hian he bawlhhlawh tam tak karah hian a hna a thawk thei lo. Chuvang chuan heng nunna atana hlauhawm symptoms te hi a lo lang ta a ni.

Hei hi thlahtu natna a ni em?

Ni e, Batten natna hi a niMetabolic disorder rochun atanga lo chhuak a ni. Chumi awmzia chu naupangin natna a vei theih nan nu leh pa pahnih hi natna thlentu gene mutation carrier an nih a ngai tihna a ni. Carrier tih awmzia chu nu leh pate hian mutation nei mahse, gene copy pakhat chauh an neih avangin symptoms an nei lo tihna a ni.

Medical science-ah chuan hei hi ``autosomal recessive`` inheritance an ti a. Chumi awmzia chu naupang chuan a nu leh pa te hnen atanga gene chhia a rochun chauhvin symptoms a nei dawn tihna a ni. Lottery ticket sir lehlamah a inang vek ang mai a ni.

He natna hian eng harsatna nge a thlen theih?

Hei hi thil lungchhiatthlak tak a ni tak zet. Nausen, naupang, leh puitling naupangte pawh Batten natna vangin an thi thuai thei a ni. A symptoms chu a na zual sauh sauh a. Entîr nân, naupang chu a tîra mitdelna tlem a neih chuan a tâwpah chuan a mit a del vek thei a ni. Tin, taksa ruhte chu a chak lo thei a, kea kal theih lohvin a awm thei a, a tawpah chuan paralysis a awm thei bawk.

Thil thleng chu cell te an thih chuan an chhungah bawlhhlawh a lo awm khawm a, chu cell te chuan an hna an thawk thei lo. Hei hian naupang chhungril peng hrang hrangte hnathawh dan a nghawng bawk. Organ te hian cell atanga an mamawh support an hmuh loh chuan organ failure ang chi natna khirh tak tak a awm thei a ni.

Doctor-te hian engtin nge Batten Disease hi an hriat theih?

Doctor-in Batten natna a rinhlelh chuan i fa chu uluk takin an enfiah hmasa ang. Tin, i fate natna lan chhuah dan leh i chhungkuaah hetiang dinhmun hi an nei tawh em tih te an zawt bawk ang che. Tichuan, a hnuaia test te hi an ti thei ang:

• Genetic testing: Hei hian naupang thisen emaw, a hmui emaw tlemte lak a, test turin lab-ah thawn a ni. Chutah chuan naupang DNA-a a hmaa kan sawi tawh CLN genes-a inthlak danglamna emaw, inthlak danglamna emaw an zawng thin. He genetic test hi Batten natna a awm tih chiang taka finfiah theihna awmchhun a ni.
• Biopsy: He test-ah hian doctor chuan i fa vun atanga tissue te tak te a la a, microscope hmangin a en thin. Chumi hnuah chuan vun cell-a lipofuscins (thau leh protein atanga siam yellow-brown deposit) an tih thil awm dan pangngai lo tak takte chu an zawng thei a ni.
• Mit enfiahna: Naupang mit (retina leh optic nerve) hriselna endik nan Electroretinography (ERG) an tih test an ti thin. Hei hian retina-in êng a chhan dan a teh a ni.

Chu bakah, thisen test dang leh imaging test dang pawh tih theih a ni a, chu chuan natna dang, chutiang bawka natna lan chhuah theihna tur chu a paih chhuak thei bawk.

Hei hi enkawl dan tur a awm em?

Kan sawi tawh ang khan Batten Disease hi damdawi tluantling a la awm lo.Chuvangin, enkawlna lama doctor-te thil tum ber chu natna lan chhuah dan thunun a, naupang thlamuanna pe a, nang leh i chhungte tan he hun harsa tak kara an mamawh tanpuina pek hi a ni.

Hei hi doctor pakhatin a enkawl lo va, field hrang hranga specialist team-in an enkawl a ni. Hengte hi an hmang thei a ni:

• Damdawi: Entirnan, damdawi hi seizure control nan emaw, kan sawi tak hallucinations ang chi thil tihziaawm nan emaw pek theih a ni.
• Physical therapy leh occupational therapy: Heng enkawlnate hian taksa ruh (muscle stiffness) a tihziaawm thei a, naupang chu a rei thei ang bera mahni chauha thil a tih theih nan a pui thei a, kea kal pawh a pui thei bawk.
• Mental health counseling leh therapy: Hetiang diagnosis dawn hi naupang leh nu leh pate tan pawh a harsa hle thei. Chuvangin psychological support lak a pawimawh hle.

Ngaihtuah teh, i fa chu he natna avang hian a thi thuai dawn tih i hriat hunah, nang leh i chhungte chungah eng chen nge rilru lam nghawng a neih ang? Chuvangin hetiang hunah hian psychological counselling hi a pawimawh hle. Tin, support group pawh a awm a, chutah chuan midangte pawh chutiang bawka thil tawn tawhte nen in inzawm thei bawk. Chakna nasa tak an pe thei che a ni.

Hetih lai hian zirchiangtute chuan Batten natna enkawlna thar an zawng chhunzawm zel a ni. Damdawi thar, stem cell transplant leh gene therapy te an chhui mek a, chu chuan gene chhia chu gene tha takin a thlak a ni. I doctor chuan i fa chu heng clinical trial pakhatah hian tel ve turin a rawt thei ang.

Enkawlna thar a awm hma chuan doctor-te chuan natna lan chhuahna control-na lam an ngaihtuah nasa zawk a ni.

Tunah hian enkawl phalna a awm em?

Ni e, tunah hian US FDA-in naupang CLN2 type of Batten natna vei te tana hman tur damdawi pakhat a pawm a ni. Cerliponase alfa (Brineura®) tih a ni. Hei hi i fa thluak vel tuiah kar hnih danah direct-a injection pek thin a ni. He damdawi hian naupang che thei (e.g., crawl, walk) tihkhawtlai nan a pui thei a ni. Mahse, symptom dang a thunun thei lo.

He natna hi eng prognosis nge ni?

Dik tak chuan Batten natna thlirletna hi a tha vak lo. Kan sawi tawh ang khan natna hlauhawm tak a ni. Kar tam tak, thla tam tak, a nih loh leh kum tam tak chhung pawhin a natna lan chhuahna chu a zual zauh zauh a. A tâwpah chuan naupang chu a mit a del vek thei a, ṭawng a sawi thei lo va, a kal thei lo va, amah chauhin a ṭhu thei lo va, mi dangte nên a inpawh thei lo thei bawk. Naupang pakhatah hian natna lan chhuah dan a zual zel dan hi a inang lo thei a ni.

Hetiang thil zir hi a mak zia ka hrethiam. Mahse, i fa taksain, "Tunah ka chau tawh," a tih hma loh chuan an naupan lai hun chu nuam ti takin hmang la, inkhelh la, an duhzawng thil ti rawh. Hemi hun chhung hian i fa hian a hma aia nasain i hmangaihna leh i thlawpna a mamawh a ni.

Doctor i tlawh fo a ngai dawn a, clinic-ah i fate symptoms enkawl turin i kal fo a ngai dawn a ni. Chuvangin medical team te nen hian thawhhona tha tak i neih a ngai a ni. He zin chhung hian zawhna i neih apiang i zawt thei ang.

I fa enkawl bakah hian nang leh i chhungkaw dangte pawhin he hun chhung hian tanpuina nasa tak i mamawh a ni. Naupang boral tur ruahmanna siam lawk a, chumi hnua lungngaihna hmachhawn chu thil harsa tak a ni. Mahni chauha tih theih thil a ni lo. Chuvangin, he hun harsa karah hian tanpuina i mamawh a nih chuan rilru lam hriselna lama counselor emaw, i chhungkaw doctor (PCP) emaw pan la. Counselling, family therapy, emaw, support group-a tel emaw chu i ngaihtuah duh mai thei.

Batten Disease vei naupang dam rei zawng chu engzat nge ni ang?

Batten natna vei naupang tam zawk hi an puitlin hma thlengin an dam thin. Mahse, naupang dam chhung hi natna chi hrang hrang leh natna nasat dan azirin a inang lo. Entirnan, naupang nausen lai emaw, naupan lai emawa natna lanchhuahna nei te chu an natna lan chhuah tirh atanga kum nga atanga kum ruk vel an dam tlangpui. Mahse, naupang kum 10 vel a symptoms nei chuan kum 20 hnuai lam thlengin a dam thei a ni. A awlsam zawngin, natna lan chhuah tan kum a naupang zawk chuan a dam rei zawk thin.

End-stage Batten natnaah hian eng nge thleng?

Batten natna hnuhnung ber chu naupangin darkar 24 chhung enkawl a mamawhna a ni . Hetih lai hian naupang chu khum atangin a tho thei lo va, a che thei lo pawh a ni thei. An mit an hloh vek thei a, an be thei lo che pawh a ni thei.

Hei hi Batten natna stage harsa ber a ni. Doctor-te chuan naupang chu a nuam thei ang bera leh natna awm lo thei ang bera siam turin theihtawp an chhuah thin. He final stage chhung hian naupang taksa chu zawi zawiin a thawk tawh lo.

He natna laka inven dan tur a awm em?

Vanduaithlak takin tunah hian Batten Disease laka inven dan tur a awm lo. Amaherawhchu, i chhungkuaa mi emaw, i fate emaw pawhin he natna hi an vei a, fa dang i beisei a nih chuan, i doctor nen genetic counseling chungchang sawipui a tha. Genetic test hian nang leh i kawppui pahnih hian natna thlentu gene in nei em tih a hriat theih. Chumi hnuah chuan doctor chuan fa neih dan tur ruahmannaah a pui thei ang che.

Engtikah nge doctor i hmuh ang?

I fain Batten natna symptoms a nei nia i hriat chuan doctor pan nghal rawh. Hriat hmasak hian i fate nunphung chu eng emaw chen a tichangtlung thei a ni.

Tin, i chhungkuaa mi tu emaw hian he natna hi a vei a, i chhungkua tihpun (nau neih) i tum a nih chuan doctor nen genetic counseling chungchang sawipui rawh.

Doctor hnena zawh tur pawimawhte chu engte nge ni?

Doctor hmu tura i kal dawnin heng zawhnate hi zawh a tha ang:

• Ka fa hian eng ang Batten Disease nge a neih?
• Eng ang enkawlna nge i rawt?
• Chutiang enkawlnate hian side effect a nei em?
• Ka fa a lo puitlin chuan eng symptom nge ka fimkhur tur?
• Prognosis chu eng nge ni?
• Support group i recommend theih tur a awm em?

Puitling pawhin Batten Disease an vei thei em?

Ni e, a tlem hle nachungin, puitlingte hian Batten natna lanchhuahna an nei thei a ni. Kum 30 velah a thleng tlangpui a, puitlingin he natna hi an vei chuan a natna lan chhuah dan hi a na lo fo thin. Tin, puitling huna heng symptoms lo langte hian dam rei zawng a ti tawi lo bawk.

A tawp berah chuan kan hriat reng tur pawimawh tak chu a ni

Nu leh pa tumahin an fain natna hlauhawm tak a nei a, puitlin hmain a thi dawn tih an hre duh lo. Hetiang hunah hian beidawnna, lungngaihna, thinrimna leh lungngaihna tam tak neih hi thil pangngai tak a ni. Chutiang rilru natna chu i hre thei a ni.

Batten Disease chungchang te, beisei tur te, leh nang leh i chhungte nen he zinkawng harsa tak zawh tura in puih theih dan tur te hriat tumin genetic counselor nena inhmuh hi a \angkai hle thei a ni.

A pawimawh ber chu nangmah chauh i ni lo tih hriat reng hi a ni. Batten natna hi damdawi awm lo mah se, zirchiangtute chuan enkawlna thar an zawng chhunzawm zel a ni. Damdawi chi hrang hrang, symptoms control thei leh naupang nunphung tichangtlung thei tur damdawi eng emaw zat an chhui mek a ni.

Nu leh pa dangte’n hetiang thil an tawn mekna support group chungchang hi i doctor hnenah zawt rawh. Hemi hun chhung hian i thil tawn te sawi chhuah leh midangte hnen atanga zir chhuah hi chakna leh thlamuanna nasa tak a ni thei.

` Batten natna, Genetic Diseases, Nervous System natna, Naupang natna, NCL, Symptoms