Tin, thunun theih loh khawpa khur pawh i nei em? Thil i theihnghilh em? Huntington natna chungchang hi han sawi ila!

A chang chuan i kut leh ke chu sawifiah theih loh khawpin a inher ang maiin i hria em? A nih loh leh, tun hmaa i hriatrengna ṭha tak takte kha theihnghilh ang maiin i inhria em? A nih loh leh i hriat mi pakhatin he harsatna hi a nei em? Heng thilte thlentu awm thei pakhat chu Huntington natna an tih hi a ni. Vawiin hian chipchiar takin, awlsam takin kan sawi dawn a ni. Hlau suh, hei hi hriat chian a pawimawh hle.

Huntington natna hi eng nge a nih i hria em?

A awlsam zawngin sawi ila, Huntington’s Disease hi genetic condition a ni a, thlah kal zelah a kal zel a ni. Kan thluaka cell thenkhatte chu zawi zawiin a chhiat a, an hnathawh a hloh thinna dinhmun a ni. A bik takin, thluak hmun hrang hrang, kal leh khur ang chi mahni duhthua chetna control tu te , leh kan hriatrengnaah inrawlh thluak peng hrang hrangte a nghawng a ni

He natna lan chhuah tam ber chu thunun theih loha chetna, jerking leh shaking, leh kan ngaihtuahna, nungchang, leh mize inthlak danglamna te hi a ni . Thil lungchhiatthlak tak chu, heng symptoms te hi hun kal zelah a zual zel thin. Mahse, lungngai suh, hei hi hriat chian hian thil tam tak atana inbuatsaih turin min pui thei a ni.

Huntington natna chi hrang hrangte chu engte nge ni?

Huntington natna hi chi hnih a awm a, chungte chu:

1. Puitling tan: Hei hi a tam ber chi a ni. Kum 30 an tlin hnuah symptoms hi a lang tan tlangpui.

2. Early onset (juvenile) Huntington’s disease: Hei hi chi khat a tlem hle. Naupang tê tê leh puitling tleirawlte a nghawng a ni.

He natna hi engtiang chiahin nge a hluar? Tuin nge dawng thei ber?

Huntington natna hi khawvel hmun hrang hrangah hmuh tur a awm a, mahse chhinchhiah dan chuan mi sang za zinga mi pathum atanga pasarih velin a vei a ni . European hnam chhuak (Europe atanga lo piang chhuak tihna) zingah a tam hle. Mahse, genetic condition a nih avangin tu pawhin an nei thei tih hre reng ang che.

He natnaah hian eng symptoms nge kan hmuh?

Huntington natna hian kan taksa bakah kan rilru a nghawng nasa hle. Heng symptoms te hi eng nge ni tih han thlir ila.

Taksa inthlak danglamna (taksa lam natna lanchhuahna) .

Hengte hi taksa pianphung langsar ber berte chu a ni:

• Thunun theih loh chetna, ke ruhte innghahna emaw, inhnim hrual emaw: Hei hi damdawi lam chuan chorea kan tih chu a ni.
• Balance hloh : Kal emaw, ding nghet emaw a harsat. Hei hi ataxia an ti a .
• Kal harsat.
• Chaw emaw tui emawChaw ei harsa: Hei hi dysphagia an ti a.
• Thusawi hrual (slurred) a ni.

Heng taksa chhinchhiahnate hi a lang thut lo. A tir lamah chuan thil tenawm tak tak atangin an tan thin. Ngaihtuah teh, pen dik taka vawn harsatna, thil paih reng, i balance hloh. Mahse hun kal zelah heng symptoms te hi zawi zawiin a pung thei a ni.

Rilru leh rilru natna (psychological symptoms) a nghawng dan .

Taksa lama natna lan chhuah dan bakah hian Huntington natna vei chuan rilru leh nungchang lama inthlak danglamna a nei thei a, chungte chu:

• Emotion inthlak danglamna: thinrim fo, lungkhamna, lungngaihna ( depression ), thinrimna.
• Hriatrengna, ngaihven leh multitasking lama harsatna.
• Thil thar zir harsa.
• Thutlukna siam harsa leh ngaihtuahna fim tak.

A tirah chuan heng taksa leh rilru lam natna lanchhuahnate hian nitin hnathawhnaah nghawng lian tham a nei lo mai thei. Mahse, hun kal zelah heng symptoms te hian mahni inrintawkna neia hnathawh a harsat phah thei a ni.

Huntington natnaah hian he taksa peng (Chorea) tiharh hi eng nge ni?

Huntington natna taksa lama a lan chhuah hmasak ber pakhat chu chorea tih hi a ni. Hei hi taksa peng hrang hrangte chu duh loh zawnga leh kan thunun theih loha an che emaw, an inher emaw hian a ni. Kut, kut zungtang leh hmai ruh te a nghawng hmasa ber tlangpui. A hnuah chuan kut, ke leh taksa chunglam pawh thunun theih lohvin an che tan ta a ni. Chorea hian thusawi, ei leh in leh kal a ti harsa thei hle. Nitin hnathawh, lirthei khalh ang chi pawh a nghawng thei bawk.

Engvangin nge Huntington’s Disease hi a lo awm? A chhan chu eng nge ni?

Huntington natna thlentu ber chu kan genes inthlak danglam vang a ni. A dik tak chuan `HTT` tih gene-a mutation avanga lo awm a ni. He `HTT` gene hian kan taksaah hian protein pakhat `Huntingtin protein` tih a siam chhuak a. He protein hian kan nerve cell `(Neurons)` te hnathawh that nan a pui thin.

Mahse, Huntington natna vei chuan huntingtin protein siam thatna tur information zawng zawng chu an DNA-ah a nei vek lo. Chumi avang chuan protein chu a lo piang dik lo va, a pianzia pangngai lo takin a lo piang a, kan nerve cell te chu a puih ai chuan a tichhia tan ta a ni. He genetic mutation hian nerve cells te hi a thih tir thin a ni.

He nerve cells hloh hi kan thluak hmun ``Basal Ganglia`` an tih, chetna thununtuah a thleng ber a , kan ngaihtuahna, thutlukna siam dan leh hriatrengna thununtu ``Brain Cortex`` ah a thleng bawk.

Hei hi thlahtu natna a ni em?

Ni e, Huntington natna thlentu genetic mutation hi rochun theih a ni. I nu leh pa dik tak zinga pakhatin genetic mutation a neih chuan nang pawhin i rochun a rinawm. Hei hi autosomal dominant pattern of inheritance an ti a . Hetiang a nih chuan nu leh pa pakhatin natna a neih chuan naupangin a vei theihna chance 50% a nei a ni. Mahse, a tlem hle a, mi tu emaw chuan gene mutation thar hmangin natna hi a nei thei a, chhungkaw zingah tumahin he natna hi an la nei lo a nih pawhin.

Tute nge he natna vei theihna sang zawk?

Tu pawhin Huntington natna hi vei thei mahse, i biological family-a mi tu emaw chuan he natna hi a vei a nih chuan i hlauhawm ber a ni. Sawi tawh ang khan i nu leh pa zinga pakhatin Huntington natna a vei chuan nang pawhin i vei theihna chance 50% i nei a ni.

Huntington natna avanga harsatna awm thei te chu engte nge ni?

Huntington natna hi a zual zel tihna a ni a, chu chu hun kal zelah a natna lan chhuah dan chu a zual zauh zauh tihna a ni . Harsatna lo awm thei te chu:

• Dementia : Hei hian thluak hnathawh tlahniam, hriatrengna hloh, leh mize inthlak danglamna lian tham tihna a ni.
• Insum theih lohna emaw, tlu emaw avanga taksa hliam .
• Chaw ei harsat chuan ei leh in dik lohna a thlen thei a, chu chuan ei leh in lama harsatna a thlen thei a ni .
• Ṭanpuina tel lova kal thei lo nih.
• Infection tam tak, a bik takin lung infection pneumonia ang chi te.

Naupang kum naupan lai atanga Huntington natna vei te pawhin seizure an nei thei bawk .

Engtin nge he natna hi dik taka i hriat theih? (Diagnosis) tih a ni.

Doctor, a bik takin neurologist , chuan Huntington natna i vei leh neih loh chu chiang takin a hrilh thei che a ni. A enfiah ang che a, khur, khur, balance, reflexes, leh coordination chhinchhiahna a zawng ang. Tin, i chhungte zingah he natna vei an awm leh awm loh an zawt bawk ang. A tam zawkah chuan a natna hriat chian nan genetic test neih a ngai thin.

Chutiang bawka chhinchhiahna thlentu dinhmun dangte chu paih chhuah a, Huntington natna hmuhchhuah a nih leh nih loh finfiah nan a hnuaia test te hi tih a ni:

• Thisen test neih a ni .
• Genetic Testing neih a ni.
• Brain imaging test: Entirnan, `( MRI – Magnetic Resonance Imaging)` leh `(CT scan – Computed Tomography hmanga tih a ni).

Genetic testing tih hi eng nge ni? Engtin nge hei hi a hriatchhuah?

Genetic test hi thisen test a ni a, i DNA a inthlak danglamna a zawng thin. I doctor chuan i thisen sample a la ang a, i DNA test turin lab-ah a thawn ang. He test hian a chunga kan sawi tak HTT gene mutation hi i nei em tih chiang takin a hrilh thei che a ni. Genetic counselor (genetic testing lama tui tak) chuan a kalphung leh result a hrilhfiah ang che.

I doctor chuan chhungkaw member dangte pawhin he genetic test hi tihsak turin a rawt thei bawk. Hei hian nakin lawkah natna vei emaw, natna vei nau neih emaw an neih theihna tur tehfung atan a pui dawn a ni.

He natna hi i vei em tih hriat theih a ni em?

Ni e, i ti thei. I nu leh pa emaw, i unau emaw zinga pakhatin Huntington natna a vei chuan nang pawhin i vei theihna a sang hle. Predictive Genetic Testing hian Huntington natna thlentu gene mutation i neih leh neih loh chu a lan chhuah hmain a hriattir thei che a ni .

Mite chuan he thu hi an chhân lêt dân a inang lo. Gene i nei tih hriatna hian chhungkaw ruahmanna siamin sum leh pai chungchanga thutlukna siam turin a pui thei che a ni. Mahse, rilru lamah pawh a harsa thei hle a, a bik takin natna hi ven theih a nih loh avangin. Chuvangin, i genetic counselor nen hian symptoms a lan hmaa test hmasak phawt a tha ber em tih sawipui a pawimawh.

Huntington’s Disease enkawl dan tur chu engte nge ni?

Huntington natna enkawlna atana ngaih pawimawh ber chu a theih ang anga i rilru hahdam tir hi a ni. Tunah hian he natna hi titawp thei tur, a lan chhuah hun tikhawtlai thei tur, a veng thei tur damdawi a la awm lo. He natna hian i taksa, rilru leh rilru hriselna a nghawng avangin, enkawlna chi hrang hrang i mamawh mai thei. Chung zingah chuan:

• Physical Therapy emaw Occupational Therapy emaw hmanga enkawl theih a ni.
• Thusawi hmanga enkawlna (Speech Therapy) a ni.
• Counselling pek a ni.
• Damdawi chi hrang hrang.

Symptoms control nan eng damdawi nge pek thin?

I doctor chuan i natna lan chhuah dan azirin damdawi hrang hrang a pe thei ang.

Chorea (jerking) control nana damdawi an pek tlangpui chu:

• `Tetrabenazine` tih a ni
• `Deutetrabenazine` tih a ni
• `Haloperidol` tih a ni

Emotional symptoms (mood swing leh depression ang chi) control nan i doctor chuan damdawi a pe thei ang:

• Antidepressant: Entirnan, Fluoxetine leh Sertraline te.
• Antipsychotic damdawi: Entirnan, Risperidone leh Olanzapine te.
• Mood tidanglam thei damdawi: Entirnan, lithium.

Pawimawh: Heng damdawi zawng zawng hian side effect engemaw zat a nei thei. Entirnan, physical therapy hnuah taksa ruh natna i nei thei a, chorea damdawi avanga hah emaw thisen sang hniam emaw i nei thei bawk. I doctor chuan enkawlna i tan hmain heng zawng zawng hi a hrilhfiah vek ang che, chutiang chuan thutlukna dik tak i siam thei ang.

I tanpuitu tur medical team chu tute nge ni?

He natna hmachhawn tura puitu medical team-ah hian specialist te pawh an tel thei a, chungte chu:

• Doctor, thluak leh nerve lama tui tak (Neurologist).
• Psychiatrist pakhat a ni.
• Genetic Counsellor hna thawktu a ni.
• Taksa lam enkawltu (physical therapist) a ni.
• Occupational Therapist hmanga enkawltu a ni.
• Thusawi thiam tak a ni.

He natna hi a lo awm loh nan kawng a awm em?

Tunah hian Huntington natna vei theihna tur ven leh tihtlem dan tur a la awm lo. Mahse, chhungkaw din i tum a nih chuan genetic counselor nen inbia la, genetic testing chungchang zir rawh. Hei hian genetic disease nei fa i neih theihna tur i hriatthiam theih nan a pui thei che a ni. Tunah chuan nakin lawka naupangte’n Huntington natna an rochun loh nan IVF (In Vitro Fertilization) chu genetic testing nen hman theih a ni ta.

Engtin nge Huntington’s Disease hi hun kal zelah a zual zel? (Natna stage hrang hrang) .

Huntington natna hi hun kal zelah zawi zawiin a zual zel a. Hei hi mi hrang hrangah a inang lo thei a, mahse a tlangpuiin a hnuaia stage te hi a paltlang thin:

• A tir lamah: A natna lan chhuah dan hi a na lo hle. Tlem chuan i rilru a hahdam lo thei a, i rilru a buai hle a, thil buaithlak tak tak ngaihtuah harsa i ti thei a, chetna tenau, thunun theih loh i nei thei bawk. Mahse nitin hna i thawk thei tlangpui.
• Middle stage-ah chuan:Taksa leh rilru lam inthlak danglamna hian hnathawh te, lirthei khalh te, leh inchhung hna thawh te a ti harsa hle thei a. Chaw ei chu a harsa mai thei a, chuvangin thusawi leh ei chu thil harsa tak a ni thei a, mahse thil theih loh erawh a ni lo. Balance hloh avanga tlak theihna a sang zawk. Mimal hna, inbual leh inchei te pawh a la thawk thei tho.
• End stage: Nitin hna thawh tur chu mahni chauha thawh a harsa hle. Mi tam tak chu tanpuina tel lo pawhin khum atangin an tho thei lo. Hetiang dinhmunah hian ei leh in, inbual leh hriselna enkawl turin darkar 24 chhung enkawl an mamawh a ni.

Hei hi damdawi famkim a awm em?

Tunah hian Huntington natna hi damdawi a la awm lo. Mahse, clinical trial ( mihringah test) neih mek a ni a, he natna chungchang hi hriat belh a, enkawlna tharin a puih theih dan tur ngaihtuah a ni.

He natna hi eng chen nge i dam tlangpui?

Huntington natna a vei tih hmuhchhuah a nih hnua dam rei zawng chu kum 10 leh 30 inkar a ni .

Huntington natna hian thihna a thlen thei em?

Huntington natna hi direct-a thihna thlen thei a ni lo. Amaherawhchu, hun kal zelah he natna hian nitin hna thawh a harsat phah thei a ni. Engtiang chiahin nge a na zual zel tih hi mi hrang hrangah a inang lo. Mahse, natna avanga harsatna awm thei, pneumonia emaw, tlu avanga hliam emaw chuan thihna a thlen thei a ni.

Engtin nge he dinhmun hi ka nunpui theih ang? (Mahni inenkawlna) .

Huntington natna a nasat lai pawhin nunphung tha ber ber vawng reng turin thil tih theih a awm. Rawtna thenkhat chu hetiang hi a ni:

• Exercise neih fo: Research atanga a lan dan chuan exercise hian a pum puiin i rilru a ti hahdam hle.
• Ei leh in hrisel ei rawh: I doctor chuan i ei leh in tur tihdanglamna engemaw zat a rawt thei ang. Thunun loha chetna hian ni khatah calorie 5,000 thleng a hal thei a ni. Chuvangin ei leh in inthlau (balanced diet) hi a pawimawh hle.
• Tui tam tak in rawh: Chaw ei harsa i tih hian tui tlakchhamna a awm thei. Chuvangin doctor te chuan hydrated reng turin an fuih a ni.
• Support group zawng rawh: I doctor hnenah nangmah ang midangte nena inzawmna i neih theihna tur khawtlang resources chungchang zawt rawh.
• Research care services: Hun engemaw chen chu home care services emaw, nursing home care emaw i mamawh mai thei. Hei hi hre lawk rawh.
• Thurawn petu rintlak ruat rawh: Natna a lo zual zel chuan sum leh pai leh thutlukna siamna mawhphurhna chu mi dang kutah i hlan a ngai mai thei. Hei hi thutlukna siam harsa tak, mahse pawimawh tak a ni. I natna lan chhuah danin thutlukna siam a harsat hmain i beisei turte chu buatsaih rawh.

Huntington natna hi ven theih a nih loh laiin, ruahmanna i siam thei tih hre reng ang che. Symptoms a na zual theih nan kum tam tak a ngai thei. Chumi chhung chuan doctor rintlak zawng turin hun i nei a, nakin hun atana i mamawh tanpuina i dawng thei bawk. Nangmah emaw, i chhungte zinga tu emaw hian Huntington natna i vei a nih chuan, i hriat tur chu genetic counselor nen inbia ang che.

I doctor hnenah eng zawhna nge i zawh tur?

Doctor hnenah zawhna hetiang hi i zawt thei ang:

• Hmalam pan zel tur chuan ka dinhmun hi eng ang nge ni ang? (Prognosis) tih a ni.
• Eng enkawlna nge i rawt?
• Enkawlna avanga nghawng tha lo awm thei te chu engte nge ni?
• Engtin nge harsatna ka pumpelh theih ang?
• Huntington natna tawp ber atan engtin nge ka inbuatsaih ang?
• Ka chhungkaw dangte pawh hi genetic testing neihpui turin i rawt ang em?

Huntington natna hian hun kal zelah mahni in enkawl a harsat phah thei a ni. Nangmah emaw, i hmangaih tu emaw chuan he natna hi a vei tih hriat chu a buaithlak thei hle. Mahse, natna lan chhuahna chu kum tam tak a daih theih avângin, hun pumhlum taka enkawlna leh ṭanpuina dawng tûra inbuatsaih hun i nei a ni. I hrisêlna chungchânga hun rei tak chhûnga thu tlûkna pawimawh tak tak i siam a ngai mai thei a, mahse, i hma lam hun tichhe thei tûr heng thu tlûkna siamah hian i hmanhmawh tûr a ni lo.

He natna hian nakin lawkah engtin nge a nghawng dawn che tih i hriat hunah beiseina thlahthlam chu a awlsam thei hle. Mahse, nangmah chauh i ni lo. Mi tam tak chuan mental health counselor nena inbiakna emaw, support group-a tel emaw hian thlamuanna an hmu thin. Tin, zirchianna chuan i nunphung tihchangtlunna tura pui thei tur enkawlna kawng hrang hrangte chu a zir belh zel bawk.

Take-Home Thuchah: 1.1.

Okay, chuvangin, kan sawi tawh atang hian thil tlemte i hriat reng tur a awm :

• Huntington’s Disease hi genetic disease a ni a, thluak cell te a tichhe thei a ni.
• Hei hian thunun theih loh chetna (chorea) leh rilru lam inthlak danglamna a thlen thin .
• Hei hi tihdamna famkim awm lo mah se, natna lan chhuah dan thunun thei tur leh thlamuanna tihpunna tur enkawlna a awm.
• Nangmah emaw, i chhungte zinga tu emaw chuan he natna hi i vei nia an rinhlelh chuan damdawi lam thurawn leh genetic counselling lak a pawimawh hle.
• He natna nena nun hi harsa tak ni thei mah se, ruahmanna fel tak, thlawpna, leh hriatthiamna nei chuan chak zawkin i tuar thei a ni. Enkawlna thar zirchianna a kal zel a, chuvangin beiseina nei reng ang che.

Hemi chungchang hi hriat belh i duh chuan Doctor zawt hreh suh. Hrisel takin awm rawh!