I hriat tawh angin, naupang tê ṭhenkhat chu mi dangte aiin an ṭhang lian lo hle. Nu leh pate chuan an kal emaw, an inbiakna emaw an tan tirh hian lungkhamna nasa tak an neih hi thil pangngai a ni a, tihkhawtlai tlem an hmu bawk. Vawiin hian genetic disease, chutiang bawka stressful thei, mahse a tlem hle tih kan sawi dawn a ni. Metachromatic leukodystrophy, a tawi zawngin MLD an ti a. A hming hi a buaithlak viau mai thei a, mahse a awlsam zawnga sawi i tum ang u.
He metachromatic leukodystrophy (MLD) hi eng nge ni?
A awlsam zawngin sawi ila, `(MLD)` hi thlahtu natna (genetic disease) hmuh tur awm lo tak a ni. Kan central nervous system, chu chu thluak leh ruhro (spinal cord) -a thil var , chubakah kan taksa peng hrang hranga peripheral nerve te a nghawng ber a ni. `(MLD)` hi natna dang, `(Lysosomal storage diseases)` group-a tel a ni.
Tunah chuan engtin nge he white matter hi a chhiat theih tih i ngaihtuah mai thei. Kan cell chhungah hian thil thau tak `(Sulfatides)` an tih a awm a. Hei hi a tlangpuiin a chhe vek tur a ni. Mahse `(MLD)` vei miah chuan heng `(Sulfatides)` te hi cell chhungah an pung khawm thin. Hei hi a pungkhawm chuan nerve fiber vel venhimna khuhtu `(myelin sheath)` chu a lo thang tha lo hle. He myelin sheath hi wire vel plastic sheath ang a ni. He myelin hian white matter chu a rawng var petu a ni.
Chuti a nih chuan, he myelin sheath hi a chhiat chuan eng nge thleng? Kan mental function leh motor function, chu chu muscle movement te hi a tlahniam zauh zauh a. ``(MLD)`` symptoms hi hun kal zelah a na zual zel a, a tam zawkah chuan a natna hmuhchhuah atanga kum tlemte chhungin thihna a thleng thei bawk.
Hei hi chhan bik neiin metachromatic leukodystrophy an ti a. Pathologist chuan microscope hmanga a en chuan heng sulfatides nei cell te hian an chhehvela cell dangte aiin rawng an absorb dan a danglam zawk a ni. Chuvangin "metachromatic" an ti a ni. "Leukodystrophy" tih hian thil var tihchhiat zauh zauh tihna a ni ("leuco" tih hian var a kawk a, "dystrophy" tih hian a chhe tihna a ni).
`(MLD)` chi hrang hrangte chu engte nge ni?
He natna (MLD) hi chi thum a awm a. Chungte chu an lo thanlenna kum azirin an insem a.
Nausen hnu lama MLD
Hei hi MLD chi hrang hrang zingah chuan a tam ber a ni. Naute thla 12 leh thla 20 inkar, a nih loh leh kum khat leh a chanve vel a nghawng tlangpui. A lan chhuah dan chu kea kal harsatna, hmasawnna tlai, mitdel, leh dementia te a ni. Lungchhiatthlak takin he natna vei naupang tam zawk hi kum 5 an tlin hmain an thi a, MLD vei zinga 50% atanga 60% vel chu he category-ah hian an tel a ni.
Naupang MLD (MLD) te tan chuan 1.1.
Hetiang chi hi a tlangpuiinNaupang kum 3 leh 10 inkar a nghawng a, heng naupangte hian rilru lama harsatna, nungchang lama harsatna, seizures, leh dementia te ang chi symptoms an nei thei a ni. Hetiang MLD vei naupang hi a hmuhchhuah atanga kum 10 atanga kum 20 chhungin a thi thei a ni. MLD vei zinga 20% atanga 30% vel chu he category-ah hian an tel a ni.
Puitling MLD
Kum 16 hnu lamah a intan tlangpui a, chu chu tleirawl lai emaw, a hnu lamah emaw a ni. A lan chhuah dan chu rilru lam inthlak danglamna, seizure, leh dementia te a ni. Thihna hi hriat chhuah atanga kum 6 leh kum 14 inkarah a thleng thei. MLD vei zinga 15% atanga 20% vel chu he category-ah hian an tel a ni.
Engtiang chiahin nge natna `(MLD)` hi a tlem?
Ni e, MLD hi natna hmuh tur awm lo tak a ni. Zirchiangtute sawi dan chuan United States-a mi 40,000 zinga pakhat velin a nghawng a ni. Mahse, isolated population thenkhatah chuan a tam zawk. Entirnan, Navajo mite hi mi 2,500 zinga pakhat vel an ni tih hmuhchhuah a ni.
`(MLD)` natna lan chhuah dan chu engte nge ni?
MLD natna lan chhuah dan hi a chi hrang hrangah a inang lo thei. Mahse a tlangpuiin chi zawng zawng hian nervous system hnathawh a tichhe zauh zauh thin. Chumi awmzia chu taksa ruh chetna, finna, rilru put hmang, leh mize ang chi thilte a nghawng tihna a ni.
Nausen hnu lama MLD natna lan chhuah dan
Hetiang chi `(MLD)` vei naute hi a tir lamah chuan an than dan pangngai angin a lang thei a, mahse kum khat vel hnuah chuan heng symptoms te hi an lantir tan thin:
- It becomes difficult to walk , a tawpah chuan kal theih loh tak tak a lo ni ta a ni.
- Muscle chak lohna (hypotonia) a awm thin.
- Hmasawnna lama tlai lam hmuh tur a awm.
- Thusawi harsa (dysarthria).
- Zawi zawiin , mit a bo a, mitdelna a lo awm ta a ni.
- Chaw ei harsa (dysphagia).
- Dementia a awm thin.
Naupang MLD natna lan chhuah dan
Hetiang MLD vei naupangte hian a lan chhuah dan te chu:
- Thiamna lama theihna a tlahniam. Hei hi sikul hnathawhnaah pawh a lang thei.
- Nungchang lama harsatna a lo chhuak thin.
- Mihring nihna inthlak danglamna hmuh tur a awm.
- Muscle movement control thei lo.
- Peripheral neuropathy a awm thin.
- Seizures a lo thleng dawn ta.
- Dementia a awm thin.
Puitling MLD natna lan chhuah dan
MLD vei puitlingte zingah hian rilru lam inthlak danglamna hi a langsar ber a ni.Taksa chetna lama harsatna a awm lo emaw, a tlem emaw pawh a ni thei. A lan chhuah hmasak ber chu zu insualna, ruihhlo hmansualna, sikul/hnathawhna hmuna harsatna awmte a ni thei.
Feature dangte chu:
- Rilru lama harsatna, hallucinations, psychosis, a nih loh leh schizophrenia .
- Seizures a awm thin.
- Peripheral neuropathy a awm a.
- Dementia natna (dementia) a awm.
A châng chuan doctor-te chuan puitlingah MLD hi bipolar disorder emaw, dementia emaw tiin an hmu sual thei bawk.
`(MLD)` awm chhan chu eng nge ni?
MLD thlentu ber chu nu leh pa pahnih atanga an rochun gene mutation a ni.
MLD vei tam tak chuan ARSA gene-ah mutation an nei a. He gene hian enzyme pakhat Arylsulfatase A siam chhuah dan tur a hrilh a, he enzyme hian a chunga kan sawi tak sulfatides te hi a ti chhe thei a ni. Chuvangin, gene mutation avang hian MLD vei te hian he enzyme hi an siam chhuak lo va, a nih loh leh an siam tlem hle bawk. Chuvang chuan sulfatides a pung khawm thin. Hetianga sulfatides pungkhawm hi nervous system-a white matter-ah chuan toxic a ni a, chu cell-te chu a tichhia a ni.
MLD vei thenkhat chuan PSAP gene-ah mutations an nei thei bawk a, hei hian sulfatides tihchhiat dan tur thupek a pe bawk.
Hei hi genes atanga lo chhuak thil a ni em?
Ni e, `(MLD)` hi thlahtu natna a ni. `(autosomal recessive)` pattern-a rochun a ni. Chumi awmzia chu he natna vei nu leh pa pahnih hian he mutated gene (`(carriers)`) copy khat an keng tel tihna a ni. Mahse, chu nu leh pate chuan symptom an nei lo tlangpui. Naupangin natna a vei theih nan chuan he gene chhia hi nu leh pa hnen atanga rochun a ngai a ni.
`(MLD)` hian eng side effect nge a neih theih?
`(MLD)` avanga side effect awm thei ber berte chu:
- Neurocognitive tlahniam (dementia) 1.1.
- Optic nerve atrophy avanga mitdelna.
- Ei leh in lama harsatna (malnutrition) a awm.
- Aspiration pneumonia hi ei leh in emaw tui emaw thawkna kawng chhunga lut vang a ni .
- Thihna.
Engtin nge MLD hi hmuhchhuah a nih?
Doctor (a tlangpuiin neurologist) chuan i emaw i fa emaw symptoms atanga MLD a rinhlelh chuan test an order thei a, chungte chu:
- Genetic testing: Hei hian ``ARSA'' leh ``PSAP'' genes-a ``MLD'' thlentu mutations a hmuchhuak thei a ni.
- Biochemical testing neih dan tur: 1.1.Hei hian i taksaa `(Sulfatides)` level a teh thei a ni. Entirnan, `(Sulfatase)` enzyme activity leh `(Sulfatides)` level te chu zun a awm dan te enfiah thin a ni.
- Brain MRI: Hei hian MLD hmuhchhuah a nihzia a nemnghet a ni. MLD vei te hian myelin hloh dan bik an neih avangin MRI hmangin myelin a awm leh awm loh hriat theih a ni.
MLD i vei tih hriat a nih hnuah, he natna hian i nervous system a nghawng nasat zia enfiah leh turin an ti thei che a ni. Chung zingah chuan:
- Neurocognitive testing hmanga enfiah a ni.
- Neuropsychological testing neih a ni.
- Nerve conduction test a ni.
`(MLD)` enkawlna tur engte nge ni?
Vanduaithlak takin MLD damdawi a awm lo. Enkawlna tum ber chu symptoms control leh quality of life tihchangtlun hi a ni. Doctor-te chuan natna a zual zel tur tihziaawm nan stem cell transplant an rawt thei a, chu chu natna lan chhuah hma emaw, naupang natna lanchhuahna na lo tak takte tan emaw a ni thei.
Natna lan chhuah dan control nan damdawi chi hrang hrang pek theih a ni a, chungte chu:
- Seizure tan anticonvulsant damdawi.
- Muscle stiffness (spasticity) tihziaawm (muscle relaxants).
- Rilru lama harsatna nei tan antidepressant.
- NSAID leh natna tidamtu dangte.
Enkawlna dang hman theihte chu:
- Physical therapy hmanga taksa ruh chakna leh nghet lo tihziaawmna.
- Nitin hnathawhna atana pui turin occupational therapy.
- Thusawi leh ei leh in lama harsatna nei tan Speech therapy.
- Rilru lam harsatna nei tan Psychotherapy.
- Percutaneous endoscopic gastronomy (PEG) hi ei leh in lama harsatna leh ei leh in lama harsatna nei te tan tube hmanga pum chhunga luhtir dan a ni.
Nang emaw i fa emaw pawhin palliative care i dawng thei bawk . Palliative care chu MLD ang chi natna khirh tak nei te tan natna lan chhuah dan atanga chhanchhuahna, thlamuanna leh puihna pe thei enkawlna a ni. Damlo enkawltute tan pawh thlamuanna nasa tak a pe bawk. MLD enkawlna dang nen pawh hman dun theih a ni.
Natna `(MLD)` vei chu engtin nge a awm? (Natna hmasawnna) .
MLD vei tur prognosis hi a tha vak lo. Natna zual zel a ni. Chumi awmzia chu a symptoms a darh a, a na zual zel tihna a ni. MLD vei chuan taksa ruh leh rilru hnathawh a hloh vek a, a tawpah chuan a thi ta a ni.
Eng chen nge `(MLD)` nen hian i dam theih ang?
MLD vei dam rei zawng chu natna hmuhchhuah hmasak ber kum a zirin a ni.
- Nausen hnu lama awm dan:Thihna hi a hriat chhuah atanga kum nga atanga kum ruk chhungin a thleng tlangpui.
- Juvenile form: Hetiang natna chi hi a tam lo hle a, a tlangpuiin a hmuhchhuah atanga kum 10 atanga kum 20 chhungin thihna a thlen thin.
- Puitling form: Thihna hi hriat chhuah atanga kum 6 leh kum 14 inkar vel a ni tlangpui.
`(MLD)` ven dan tur a awm em?
MLD hi genetic disease a nih avangin a venna tur engmah tih theih a awm lo.
Mahse, i chhungkuaa mi pakhatin MLD a vei a, fa neih i tum a nih chuan, nang pawh hi he genetic mutation carrier i nih leh nih loh hriat nan genetic counseling lak a tha hle.
Engtin nge `(MLD)` vei i enkawl? / Nangmah emaw, i fa emaw hian `(MLD)` i neih chuan eng nge i tih?
Nangmah emaw i fa emaw hian MLD i vei a nih chuan damdawi lam enkawlna tha ber neih a pawimawh hle. I advocate a ngai a, i passionate a ngai bawk. Chumi hnuah chauh chuan nunphung ṭha ber i vawng reng thei ang.
Tin, nangmah ang bawka tawnhriat nei midangte nena inhmuhna leh ngaihdan insemna tur support group-a tel hi a hlu hle bawk.
Engtikah nge doctor i hmuh ang?
Nang emaw i fa emaw hian MLD i vei a nih chuan i medical team te nen in inhmu fo tur a ni a, natna a kal zel dan tur en la, a tul angin i enkawlna tur ruahmanna pawh siamrem tur a ni.
(MLD) diagnosis chu a buaithlak thei hle. Mahse, i healthcare team chuan i tana tha tur symptom management plan siam turin an pui thei che a ni. I mamawh tur puihna i dawng tih chian a pawimawh a, i hriselna chungchangah pawh i awm reng a pawimawh. I healthcare team te chu nang leh i chhungte tanpui turin an awm reng tih hre reng ang che.
Kan sawi tawhte kha han dah khawm ila (Take-Home Message) .
Okay, chuti a nih chuan vawiin khan `(Metachromatic Leukodystrophy - MLD)` chungchang kan sawi nasa hle a ni lawm ni?
A awlsam zawngin `(MLD)` hi a tlem hle a, genetic disease a ni. Thluak leh nervous system-a white matter a tichhia a ni. Cell chhunga thau chi khat `(Sulfatides)` an tih khawm vang a ni.
He natna hi chi thum a awm a – nausen, puitling, leh naupang. Symptom leh progression hrang hrang an nei vek a.
Vanduaithlak takin he natna hi damdawi a la awm lo. Mahse, natna lan chhuah dan control thei leh nunphung tha tak vawng reng thei tur enkawlna chi hrang hrang a awm. Stem cell transplant hian a chang chuan natna darh zel tur control nan a pui thei bawk.
Hei hi genetic disease a nih avangin ven theih ni lo mah se, chhungkaw history a awm chuan genetic counselling hi a pawimawh hle.
A pawimawh ber chu natna vei tan enkawlna leh puihna tha ber pek hi a ni.Damdawi lam enkawlna dik, palliative care, leh chhungkaw hmangaihna leh ngaihsakna te hi a hlu hle. Nangmah chauh i ni lo va, he zinkawng zawh tura pui turin doctor, counselor leh support group te pawh an awm bawk.
👩🏽 ⚕️ Zawhna dang (FAQ)
💬 MLD (Metachromatic Leukodystrophy) hi naupan laia paralysis a ni em?
Aih! Hei hi hereditary (genetic) natna hlauhawm zawk a ni. Kan thluak leh nerve-a wire covering (Myelin sheath) tihchhiat a vengtu ARSA tih enzyme a awm a. He natnaah hian chu enzyme chu pian tirh atangin a bo a, naupang tête nerve vel khuhna chu a hmin a, hei hi natna thihna thlentu an ti a, chutah chuan thluak nerve te chu a thi vek a ni.
💬 He natna vei naute hian eng symptoms nge a neih?
A tam zawkah chuan heng naute hi kum 1 emaw kum 2 emaw an nih thlengin midang ang bawkin an kal a, an inkhelh dan pangngaiin (Late-infantile). Mahse, rang takin kea kal leh ding chu a bo ta (Loss of motor skills). Tichuan an tawng thei lo va, an ei thei lo va, seizure an nei a, an mit leh hriatna an hloh a, kum tlemte chhungin an thi ta a ni.
💬 He natna hi tihdam theih a ni lo em ni? Tunah hian damdawi thar a awm em?
Tun hma chuan hei hi damdawi a la awm lo. Mahse tunah chuan damdawi lam thiamna thar ber ber thilmak angin ‘Gene Therapy’ (Lenmeldy, khawvela damdawi man to ber pawl) chu khawvelah an rawn luhtir ta a ni. He damdawi hi natna a lo chhuah hma (a lan chhuah dan a lantir) pek a nih chuan tunah chuan naupang chu a dam chhung zawngin nun pangngai a hmang thei dawn tih beiseina lian tak a awm ta.
` Metachromatic leukodystrophy, MLD, genetic natna, thluak lam natna, white matter, myelin, naupang natna
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