Vawiin hian nu leh pa tam takin an hriat ngai loh, mahse naupangte nghawng thei dinhmun tlemte kan sawi dawn a ni. Chu chu `(Infantile Neuroaxonal Dystrophy)` emaw, a tawi zawngin `(INAD)` emaw an ti a. He hming hi a hlauhawm deuhin a lang thei a, mahse a chanchin hriat a pawimawh hle. A chhan chu i fa tê têah hian danglamna i hmuh chuan damdawi lam thurawn i la nghal tur a ni.
`(Nausen Neuroaxonal Dystrophy - INAD)` tih hi eng nge ni? A awlsam zawngin i hrethiam ang u!
A awlsam zawngin `(INAD)` hi a tlem hle a, kan nervous system tichhe thei, thlahtute atanga lo chhuak a ni. Hemi a thil thleng chu thau chi khat, `(lipids)` an tih chu a tul lovah nerve cell-ah a lo pungkhawm thin a ni. Kan taksaa thuchah kengtu cable ang maiin han ngaihtuah teh. Heng cable-a thau a punkhawm hian chu thuchah chu a kal tha lo hle.
Chuti a nih chuan eng nge thleng?
Hei hian naupang chu zawi zawiin taksa ruh a thunun thei lo va , mit a tidel a , tawng a harsat phah a , finna lama hmasawnna a tichhe bawk A tam zawkah chuan heng symptoms te hi nausen (kum 3 hma) ah a lang thin. Mahse, a chang chuan heng symptoms te hi a hnu deuh deuh, chu chu tleirawl lai a ni.
Hei hi `(lipid storage disorder) category-a tel natna a ni.` Chu chu taksaa thau dahkhawmna avanga lo awm thin a ni. Vanduaithlak takin he nunna tichhe thei natna `(INAD).` tih hi damdawi tluantling a la awm lo
`(Lipid storage disorder)` tih hi eng nge ni?
Lipid storage disorders hi natna chi khat, inherited metabolic disorders category-a tel a ni. A awlsam zawngin, kan metabolism , kan ei tur chu chaknaah kan chantir a, kan taksa atanga bawlhhlawh kan paih chhuah dan a nghawng a ni.
Lipids hi kan cell-a awm thau tak tak a ni a, a bik takin thluak leh ruhro chhunga nerve khuh tu myelin sheath-ah a awm a ni. Kan nervous system atan an pawimawh hle a ni . Lipid storage disorder nei te chuan heng lipids te hi an taksaah an hman dan tur dik taka hman ai chuan an dahkhawm thin a ni.
INAD ang chi lipid storage disorder hi natna zual zel a ni . Chu chu taksaa lipids a pungkhawm chuan a natna lan chhuah dan chu a na zual sauh sauh tihna a ni.
"Infantile Neuroaxonal Dystrophy" tih hming hi eng nge a awmzia?
He hminga thumal awmte hriatthiamna hian natna hi tlem a tichiang zawk ang:
- Infantile: `(INAD)` hi pian tirh atanga awm (`(congenital disease)`) a ni. Nausen lai, kum 3 an tlin hmain a lan chhuah dan a lang tlangpui.
- Neuroaxonal: He natna hian nerve cells axons a nghawng a. Heng axons te hian thluak atanga taksa peng dangah thuchah an keng tel thin.
- Dystrophy: ``Dystrophy'' tih hi damdawi lam hming a ni a, chu chu tissue, organ leh muscle te chak lohna leh tihchhiat zauh zauh a ni.
`(INAD)` tih hming dang engte nge ni?
Doctor thenkhat chuan he natna hi "Seitelberger's disease" an ti bawk a, kum 1950 chhoa he natna hi a sawi hmasak bertu doctor hming chawiin. `(PLA2G6-associated neurodegeneration)` emaw `(PLAN)` emaw tia sawi theih a ni bawk.
`(INAD)` chi hrang hrangte chu engte nge ni?
Infantile neuroaxonal dystrophy hi he natna hi a tam ber a ni. Doctor te pawhin INAD classic form an ti bawk. A hming ang bawkin nausen lai atanga a lan chhuah dan a intan thin.
A chi dang a awm a, chu chu `(atypical INAD (aNAD))` tih a ni. Hetiang a nih chuan kum 4 vel, a chang chuan a hnu lamah pawh, puitling naupang takah hian natna lan chhuah dan a lang thin. Heng naupangte hian thusawi lama harsatna an nei thei a , a nih loh leh `(autism spectrum disorder)` an nei niin a lang thei bawk. Hetiang natna chi hi a tam lo hle.
`(INAD)` hi engtiang chiahin nge a awm?
This is an extremely rare disease , naupang sang za atanga maktaduai hnih zinga pakhat a vei mai thei.
`(INAD)` a lo pian chhan chu eng nge ni?
`(INAD)` vei naupangte hian nu leh pa pahnih atang hian gene `(PLA2G6)` ah inthlak danglamna (mutation) an rochun thin. He gene hian `(enzyme)` (protein chi khat) `(A2 phospholipase)` siam turin a pui a ni. He `(enzyme)` hian thau chi khat `(phospholipids)` an tih chu a tichhia a. Fat metabolism tha taka tih a nih chuan nerve cell te hi a hrisel a ni.
Naupang `(INAD)` neiah chuan he `(PLA2G6)` gene tihdanglam hian chu `(enzyme)` siam leh hnathawh chu a tichhe thin. Tichuan, nerve-ah hian `(spheroid bodies)` an tih spherical substance te chu a lo awm tan ta a ni. Chungte chu mit, taksa peng leh vun nena inzawm nerve tawp lamah a awm fo thin. Tin, thluaka thir a awm thei bawk.
Tute nge `(INAD)` vei hlauhawm?
Nausen neuroaxonal dystrophy hi autosomal recessive disorder a ni a, a natna hi a natna a ni. Chumi awmzia chu naupangin natna a vei theih nan nu leh pa pahnih hian mutated PLA2G6 gene copy an rochun a ngai tihna a ni. Chumi hnuah chuan naupang nu leh pate chu mutated gene carrier an ni a, mahse an natna chu an nei dawn lo.
Nu leh pa pahnih hi he mutant gene kengtu an nih chuan an fa neih apiangin a hnuaia probability hi an nei vek ang tih han ngaihtuah teh:
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* Mutant gene rochun lova fa hrisel neih theihna chance 4 zinga 1 a awm.
* Natna `(INAD)` vei hi mi 4 zinga 1 a awm.
* Natna nei lo, mahse mutated gene carrier nih theihna chance 2 in 2 a awm.
`(INAD)` natna lan chhuah dan chu engte nge ni?
Classic INAD case-ah chuan i naute chu thla 6 hmasa atanga kum 3 vel thlengin a lo thanglian dan pangngaiin a lo thang lian thei a ni .. Chu chu ṭhut, kekawr, kea kal, leh thusawi ang chi thilte chu a pangngaiin a intan tihna a ni. Tichuan, zawi zawiin heng thiamna zir te hi a bo tan ta a ni . Hei hi a chhan chu taksa ruh (muscle wasting) vang a ni fo. Chuvang chuan taksa chak lohna (`(hypotonia)`), taksa chak lo tihna a ni a, a bik takin trunk area-ah a lang. Natna a zual zel chuan taksa ruh (muscle stiffness) (`(spasticity)`) a awm thei.
INAD vei naupangte pawhin hetiang hian natna lanchhuahna an nei thei bawk:
- `(Ataxia)` (inthlauhna leh incheina inrem lohna) .
- Chaw ei harsa (dysphagia) .
- Hriatna lama harsatna nei
- Lu nghet taka vawn theih lohna, lu thunun theih lohna
- Hriatrengna leh finna hloh, chu chu dementia-ah a kal thei
- Seizures a awm thin
- Muscle chak lohna (dysarthria) avanga tawng harsa .
- Mit lama harsatna dang, mit hrual, mit hrual (nystagmus), emaw, mit hmuh lohna te
`(INAD)` vei naute hian an pian tirh atanga hmuh theih hmel chi hrang hrang an nei thei bawk:
- Mit inzawm (strabismus) .
- Beng lian tak, low-set
- Hmai chhuak chhuak
- Hnar emaw, hmui emaw te tak te
Engtin nge `(INAD)` natna hi hriat chhuah a nih?
I chhungkuaa mi tu emaw hian he natna hi a vei a nih chuan naute hian he mutation hi a rochun em tih chu prenatal test hmangin a hriat theih a ni. Test pakhat Chorionic Villus Sampling (CVS) tih hian nausen atanga cell lakchhuah a, gene mutation awm leh awm loh a enfiah thin.
Hengte hi naute, naupang leh puitlingte chunga test an tihte chu an ni:
- Thisen test , mutated `(PLA2G6)` gene zawngtu. He genetic test hian naupang 10 zinga 8 `(INAD).` vei a hriat theih
- ``Electroencephalogram - EEG`` test hmanga seizure awm leh awm loh enfiah a ni.
- MRI scan hmangin thluaka inthlak danglamna hmuh theih a ni.
- Nerve hnathawh dan tehna electromyogram (EMG) ang chi test te.
- Test (`(biopsy)`) vun emaw nerve emaw te tak te lak thin. Hei hi nerve axons (`(axons)`) ah `(spheroid bodies)` awm leh awm loh enfiah nan hman a ni.
Engtin nge Infantile Neuroaxonal Dystrophy (INAD) hi enkawl a nih?
Vanduaithlak takin Infantile Neuroaxonal Dystrophy hi damdawi a awm lo . Tuna enkawlnaah hian natna lan chhuah dan control leh naupang chu a hlim thei ang bera awm tura tanpui hi a ngaih pawimawh ber a ni. Heng enkawlna hrang hrangte hi:
- Anticonvulsants a ni
- A chaw pekna tube (enteral nutrition) .
- Damdawi, taksa ruh (tense muscles) tih hahdamna tur
- Natna tihdamna damdawi
- Physical therapy leh naupang lu leh taksa chak lote thlawp turin posture dik tak
- Sedatives te pawh a awm
`(INAD)` enkawlna atana siam tharte chu engte nge ni?
Medical expert-te chuan he natna darh zel tur tihtawp dan tur leh tihdam theihna tur kawng thar zawng turin research leh clinical trial an nei mek a ni. Tuna enkawlna siam mekte chu:
- Enzyme thlak danglamna therapy (enzyme tlakchham chu pawn lam atanga pek) .
- `(Gene therapy)` (Gene hmanga enkawlna) .
Natna `(INAD)` hi ven theih a ni em?
Nang leh i kawppui nen hian INAD thlentu gene mutation (chu chu in pahnih hian carrier in nih chuan) in neih ve ve a nih chuan, genetic counselor nen in inhmu a, in fate hnena a kai theih lohna tur kawng hrang hrang in sawi dun thei ang. Thil tih theih pakhat chu Preimplantation Genetic Diagnosis (PGD) tih a ni. Hetah hian IVF (in vitro fertilization) hmanga siam embryo te chu thlan chhuah a ni a, nausen pum chhungah dah a ni.
`(INAD)` vei naupang tan hmalam hun eng nge ni?
`(INAD)` vei naute chu kum hmasa lamah chuan naupang chhanna pe thei tak leh fimkhur tak angin a lang thei. Mahse, natna a zual zel chuan naupang mit hmuhna te, tawng thiamna te, motor thiamna te, leh mi dangte nena inpawh tawnna te chu a tlahniam zauh zauh tih i hmu mai thei. He natna hian thawkna kawng a nghawng thei bawk . Hei hian thawkna lama natna hrik `(pneumonia)` ang chi a thlen thei a ni. Naupang `(INAD)` vei tam zawk hi kum 10 an tlin hmain an thi thin .
Naupang chi danglam bik (aNAD) nei te hian kum 7 leh 12 inkar ah symptoms an nei tan a, typical type (INAD) nei naupang aiin dam rei zawk mahse an dam chhung pawh a tawi bawk.
Chutiang natna khirh tak nei naupang enkawl chu rilru leh taksa lamah pawh a harsa hle . Stress leh depression ang chi harsatna i nei thei bawk. Chuvângin, ṭanpuina dîl ngei ngei la, i tân hun siam la, i chhûngte nêna hlimna thlentu thil tê têteah hlimna hmuh tum ang che .
Engtikah nge Doctor i hmuh ang?
I fain heng symptoms te hi a neih chuan doctor pan rawh:
- Balance, che leh kalna lama harsatna
- Thâwk harsa
- Muscle chak lohna emaw, a inthlak danglam emaw
- Thusawi emaw, ei harsa emaw
- Mit emaw hriatna lama harsatna nei
I doctor hnenah eng zawhna nge i zawh tur?
I doctor hnenah hetiang thil hi zawt la a tha ang:
- Ka fa hian eng chi `(INAD)` nge a neih?
- Eng enkawlnate nge ṭanpui thei?
- In lamah eng nge kan tih theih ang, natna lan chhuah dan tihtlem nan?
- Medical specialist kan hmuh tur chu tute nge ni?
- Ka chhungte dang zawng zawng hi he genetic mutation hi test an ni tur em ni?
- Eng complication nge ka fimkhur tur?
A tawp berah chuan hriat reng tur (Take-Home Message) .
I fa hian Infantile Neuroaxonal Dystrophy (INAD) ang chi natna tihdam theih loh a nei tih hriat chu nun tidanglam thei thil a ni. He lipid storage disorder hian i fate chetna, hmuh theihna, ei leh in leh tawng thiamna a nghawng a ni. Symptoms te chu enkawl theih a nih laiin i fa chu a hlim theih laiin, damdawi erawh a la awm lo . Mahse, zirchianna thar leh clinical trial neih mek a ni . INAD (a carrier) thlentu mutation i neih chuan, i doctor nen hian nakin lawka i thlahte hnena pek chhuah theihna tur tihtlem dan tur sawiho rawh. Nangmah chauhvin kal ngai suh, i mamawh tanpuina hmu rawh .
` INAD, nausen neuroaxonal dystrophy, lipid storage disorder, genetic disorder, natna tlemte, naupang hriselna, neurodegeneration, genetic natna, natna rare, naupang hriselna
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