Mut hi mumang mai mai a ni em? Fatal Familial Insomnia (FFI) chungchang hi han sawi ila.

Zanah a chang chuan mut theih loh hi kan tan chuan thil pangngai tak a ni. Ni harsa tak hnuah emaw, kan rilruah harsatna eng emaw tak kan neih lai pawhin a thleng mai thei. Mahse, natna hlauhawm tak, mut ṭhat tir thei ngai lo, chu pawh chu thlahtute aṭanga lo chhuak a ni tih i ngaihtuah thei em? Ngaihtuah a har takzet a ni lawm ni? Vawiin hian hetiang natna rapthlak tak, mahse hlauhawm tak mai hi kan sawi dawn a ni. Hei hi Fatal Familial Insomnia (FFI) an ti a. A hming hi a hlauhawm deuhin a ri a ni lawm ni? Mahse, chiang takin i hria ang u.

He FFI hi eng nge ni? A awlsam zawngin...

A awlsam zawngin sawi ila, FFI (Fatal Familial Insomnia) hi thlahtute atanga natna awm lo tak a ni. I thluak leh central nervous system direct-in a nghawng a ni. He natna hian mut a ti tha lo a, chu chu mut theih lohna nasa tak i nei tihna a ni . Chu bâkah, i hriatrengna chu i hloh zauh zauh a, chu chu dementia i vei tihna a ni . I duh loh zawnga taksa ruh (muscle twitches) i nei thei bawk a, chu chu myoclonus an ti a ni.

FFI hi progressive, a nih loh leh degenerative, condition a ni. Chumi awmzia chu hun kal zelah symptoms a na zual tihna a ni. Lungchhiatthlak takin a natna lan chhuah dan hi nunna atana hlauhawm tak a ni a, tunah hian damdawi a la awm lo. Amaherawhchu, scientist-te chuan he natna zual zel tur tikhawtlai thei tur leh a vei te dam rei thei tur enkawlna an zirchiang chhunzawm zel a ni.

Tute nge FFI nei thei zawk?

FFI hi genetics vang a ni ber. Chumi awmzia chu an nu leh pa zinga pakhat hnen atanga he natna thlentu gene rochuntute atanga lo chhuak a ni tihna a ni. A tlangpuiin chhungkuaa tu emaw hian he natna hi a lo vei tawh a nih chuan chu chhungkua chuan vei theihna chance a nei a ni. A chhan chu, mutated gene copy khat neih pawh hian heng symptoms te hi a thlen theih nan a tawk a ni. Hei hi damdawi lamah chuan autosomal dominant pattern an ti a.

Mahse, a tlem hle a, chhungkaw history nei lo mi pakhatin FFI a vei thei a ni. Hei hi gene mutation thar (de novo mutation) a lo awm hian a thleng thin. Chumi awmzia chu chu mi taksaah chuan gene defect chu a lo piang thar tihna a ni.

He natna hi FFI an tih hi engtiang chiahin nge a tlem?

FFI hi a takah chuan natna hmuh tur awm lo tak a ni. Mi maktaduai khat zinga pakhat emaw pahnih emaw chauhvin he natna hi an vei nia chhut a ni. FFI hi genetic a nih avangin khawvel pumah chhungkaw 50 atanga 70 vel chauh he natna thlentu gene mutation hi hmuhchhuah a ni. Chuvangin a tlem zia chu i ngaihtuah thei ang.

FFI natna hian engtin nge kan taksa a nghawng?

FFI hian kan thluak leh central nervous system chu direct-in a target a. Genetic mutation avanga protein thenkhat chuan kan thluak peng thalamus, mut ang chi taksa hnathawh control tu thalamus chu a nghawng a ni.A sawina hmunah a pung khawm thin. I thawmhnaw chu felfai taka hrual a, i closet-a dah ai chuan i tikehsawm a, i roll a, i hmet ang tih han ngaihtuah teh. Rei vak lo hnuah chuan closet chu thawmhnaw in a khat lutuk a, i khar thei lo a ni lawm ni? Chutiang chuan heng misfolded proteins te hi thluak thalamus ah an pung khawm thin. Heng protein khawlkhawmte hian nervous system cell te chu a tichhe a, a tichhe bawk.

Chumi chhinchhiahna na ber chu mut theih lohna a ni a, chu chuan i rilru chakna leh taksa hnathawhnaah nghawng lian tak a nei thei a ni. A symptoms te hi nunna atana hlauhawm tak a ni thei a, hun kal zelah a na zual thei bawk.

FFI natna lan chhuah dante chu engte nge ni?

FFI natna lanchhuahna engemaw zat a awm a, zawi zawiin a lang tan thin.

• Progressive insomnia: A tirah chuan mut harsatna i nei mai mai niin a lang thei a, mahse a hnuah chuan i muhil thei lo tak tak thei a ni.
• Nervous system tihchak lutuk: Hei hian thisen sang, heart rate pangngai aia chak zawk, leh lungkham lutuk te a huam a ni.
• Hriatrengna hloh: Zawi zawiin thil i theihnghilh tan thin.
• Hallucinations: Thil awm tak tak lo hmuh emaw hriat emaw .
• Involuntary muscle twitching or jerking (myoclonus): A duh loh zawnga kut emaw ke emaw a inher emaw, a inher emaw.

FFI natna lan chhuah dan hi kum 20 leh 70 inkar atanga tan a ni tlangpui a, a lo lan tam ber chu kum 40 vel a ni.

Pawimawh tak chu, FFI natna lan chhuah hmasak berte hian a châng chuan dementia emaw Alzheimer’s disease emaw ang chi a ni thei . Chuvang chuan heng symptoms te hi i neih chuan doctor pan a, a diagnosis dik tak neih a pawimawh hle. A hming ang ngeiin heng symptoms te hi nunna atana hlauhawm tak a ni thei.

Eng thilin nge FFI hi a thlen?

FFI thlentu ber chu PRNP gene- a mutation, a nih loh leh inthlak danglamna a ni . He PRNP gene hian prion protein PrPC a siam a ni. He PrPC protein hi kan thluak-ah a awm a, a bik takin thalamus-ah a awm a, chu chu thluak peng pakhat, mut ang chi taksa hnathawh control tu a ni.

PRNP gene-a mutation a awm chuan PrPC protein siamtu amino acid te hian he protein hi dik taka siam turin thupek dik tak an dawng lo. Kawr fold dik lo ang mai a ni. T-shirt fold dik loh i hriat loh chuan i crumple a, drawer-ah i dah a. Hun a kal zel a, T-shirt i fold dik lo pile chuan drawer chu khar theih a ni lo. Chutiang bawkin he PrPC protein dik lo taka folded hi thluaka a pungkhawm a, nervous system cell te chu a poison a, chu chu symptoms thlentu a ni.

FFI hi rochun theih a ni em?

Ni e, FFI hi rochun theih a ni. He genetic mutation hi a niAutosomal dominant pattern-in a kai darh a ni. Chumi awmzia chu i nu leh pa pakhat chauh atanga a nghawng gene hi i rochun pawhin natna chu i rochun thei tho tihna a ni.

Mahse, kan sawi tawh ang khan FFI hi autosomal recessive a ni tlem hle a, chu chu chhungkaw zingah tumahin he natna hi an la nei lo tihna a ni a, genetic mutation thar angin a thleng thei bawk. Chutiang a nih chuan chu mutation thar chu nangmah a\angin i fate lo awm turte hnenah a lo thleng thei a ni.

Fa i beisei a, i fate hnena genetic disease i kai theihna tur i hriat duh chuan i doctor nen inbia a, genetic testing chungchang hriat chian a tha

FFI vei te hi eng thilin nge thih tir?

FFI vei te thihna thlentu ber chu thluak leh nervous system tihchhiatna a ni. He chhiatna hi thalamus-a prion proteins awmkhawm avanga lo awm hian mut theih lohna leh rilru hahna ang chi symptom na tak tak a thlen thin.

Engvangin nge mut hi kan tan a pawimawh em em?

Mut hian kan hriselna kawngah hmun pawimawh tak a chang a ni. Zan mut that hian i rilru leh taksa hriselna a titha a ni. I mut lai hian i thluak hian i taksa nen hna a thawk dun a, chu chuan zing lamah harh leh chak takin i harh thei a ni. I mut that loh chuan i thluak hian a recharge theihna a hloh a ni. I ngaihtuahna leh i taksa hnathawh dan a nghawng a ni. I thluak hian 100% a hna a thawh loh chuan i taksain a hriat dan leh a thiltih dan a nghawng a, chu chu a rah chhuah a ni.

FFI vei te hi an muhil thei lo a, chu chuan an thluak hnathawh nasa takin a tibuai a ni. Hei hian side effect tha lo tak tak a thlen thei a, chu chuan nunna a tichhe thei a, an hriselna zawng zawng a tichhe thei bawk.

Engtin nge FFI hi hmuhchhuah a nih?

I doctor chuan FFI hi i symptoms te enfiahin, test engemawzat a neih hnuah a natna hriat chian nan a hmuchhuak ang. Heng test-ah hian:

• Polysomnography: Hei hi mut kaihhnawih test a ni.
• Electroencephalogram (EEG): Hei hian thluak wave pattern a teh a.
• Cerebrospinal Fluid (CSF) analysis: He test hian thluak leh ruhro chhunga tui awmte chu enfiahin thluak leh ruhro (spinal cord) tichhe thei dinhmun a hriat theih nan a hmang thin.
• Genetic testing hmanga symptoms siamtu gene hriatchhuah a ni.
• Imaging test: Hei hi MRI (Magnetic Resonance Imaging) , CT scan (Computed Tomography scan) , emaw PET scan (Positron Emission Tomography scan) te a ni thei.
• Thisen chhiar kimchang (CBC) , thin hnathawh test , leh thisen culture teLaboratory-a test ang chi te chu.

FFI hi engtin nge enkawl a nih?

FFI enkawlna atana thil pawimawh ber chu a natna lan chhuah dan tihziaawmna leh a theih ang anga i rilru hahdam tir hi a ni. Enkawlna thenkhat, a bik takin damdawi te hian hun eng emaw chen atan natna lan chhuah dan a tiziaawm thei a ni. Amaherawhchu, tun dinhmunah chuan FFI hi damdawi a la awm lo.

Enkawlna kawng hrang hrangte chu:

• Mut thuk tak thlen theihna tur damdawi pek (e.g. (gamma-hydroxybutyrate) , (phenothiazines) ).
• Muscle spasm hi damdawi clonazepam pek hmangin enkawl rawh .
• Vitamin ( B6, B12, iron, folic acid ) pe thei.
• Damdawi natna lan chhuahna tizualtu a awm chuan a hman dan thlak emaw, tihtawp emaw a ni.
• Psychosocial therapy: Damlo leh chhungte rilru lam puihna pek.
• Hospice care / Palliative care: Damlo ni hnuhnung ber nuam taka siam.

Research chuan FFI vei te tan enkawlna kawng thar a zawng chhunzawm zel a ni. Zirna pakhatah chuan antibiotic doxycycline hian FFI vei dam rei theihna kawngah hlawhtlinna engemaw zat a nei tih hmuhchhuah a ni.

FFI enkawlna kawngah eng damdawi nge a hlawk lo?

Mut tirtu damdawi thenkhat, melatonin supplement te hian FFI enkawlna atan hun eng emaw chen chauh hna a thawk thin. Research atanga a lan dan chuan sedatives , barbiturates leh benzodiazepines , te hi enkawlna tha tak a ni lo.

FFI nei mi pakhatin eng nge a beisei theih ang?

FFI hi damdawi a awm lo. Vawikhat hmuhchhuah a nih chuan enkawlna hian i rilru hahdam tir leh i natna lan chhuah dan enkawl a tum a ni. Hei hian palliative care hi a bulpui ber a ni tihna a ni. FFI vei dam rei zawng hi a rei lo hle - a bik takin natna lan chhuah tan hnuah chuan dam rei zawng chu thla engemaw zat atanga kum hnih vel thleng a ni thei. Natna hi a zual zel a.

Hetiang hunah hian chhungkaw hrang hrangte inkhawm a, damlo mamawh enkawlna chauh ngaihtuah lovin, mahni rilru hriselna pawh ngaihtuah a, hmangaih tak boral nghal tur atana inbuatsaih a, a tul chuan damdawi lam puihna zawng a pawimawh hle.

FFI hi ven theih a ni em?

FFI hi a dang thei lo. Genetic mutation avanga lo awm a nih avangin a chang chuan a takin a lo awm thei a, chhungkaw member tumahin he natna hi an vei ngai lo.

Engtikah nge doctor i hmuh ang?

Mut harsatna i neih a, a bik takin nilengin, a dam lo a nih chuan Doctor i pan tur a ni. FFI natna lan chhuah dan chu dementia leh Alzheimer’s disease te a ni.Epilepsy ang chi natna avanga mut harsatna, hriatrengna hloh leh taksa hnathawh control harsat i neih chuan doctor pan ngei ngei tur a ni.

Doctor hnenah eng zawhna nge ka zawh ang?

• He diagnosis-ah hian tun dinhmunah hian hospice care i rawt ang em?
• Engtiang chiahin nge a symptoms te hi a nasat?
• Symptoms tihziaawmna tur enkawlna kawng hrang hrang a awm em?

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

FFI natna hmuhchhuah chu thil pawi tak a ni thei a, a bik takin thla engemaw zat chhunga natna lan chhuah dan a zual zauh zauh chuan thil pawi tak a ni thei. Mahse, he hun lai hian nangmah chauh i ni lo. I doctor-te, chhungte, ṭhiante, leh rilru lam hriselna lama mithiamte hnen aṭangin ṭanpuina zawng rawh. Palliative care leh tuna enkawlna kawng hrang hrangte hian i natna lan chhuah dan chu rei lo te atan a tiziaawm thei a ni. He natna vei te dam rei thei tur damdawi tha zawk zawng turin zirchianna kalpui mek a ni. Chuvangin, beiseina bansan suh.

` Fatal Family Insomnia, FFI, mut theih lohna, genetic natna, thluak natna, nervous system, prion natna