I thluak ‘white matter’ tichhe thei natna hmuh tur awm lo tak i nei em? Leukodystrophy chungchang hi han sawi ila!

‘Leukodystrophy’ tih thumal hi i hre tawh em? Tlem chuan mak deuh leh sawi harsa deuhin a ri mai thei, a dik em? Mahse hei hi kan nervous system, a bik takin thluak leh ruhro (spinal cord) tichhe thei natna hmuh tur awm lo tak chanchin a ni a, mahse kan zavaia kan hriat chian a pawimawh hle. A châng chuan kan hnaih bertu, naupang tê têin he natna hi a neih chuan kan buai hle ṭhin. Chuvangin, vawiinah hian he thu hi i hrethiam thei ang bera sawi mai ila.

He leukodystrophy hi eng nge ni?

A awlsam zawngin sawi ila, leukodystrophy hi thluak lama harsatna awm lo pawl a ni. Kan thluak leh ruhro (electric wire ang maia awm)-a nerve-te chu venhimna, insulating covering myelin tiin a hual vel a ni. He myelin hian nerve message te chu awlsam leh rang taka kal turin a pui thin. Doctor te pawhin he myelin layer hi white matter an ti bawk.

Electric wire vel plastic sheath ang maiin han ngaihtuah teh. Chu sheath chu a chhiat chuan electric a kal tha lo a, ‘short’ pawh a siam thei bawk. Chutiang bawkin he protective sheath myelin an tih hi a chhiat chuan, a nih loh leh a siam that loh chuan kan nerve cell te hi an inbiakpawhna mumal thei lo. Message te hi a kal tlang tha lo. Leukodystrophy-a thil thleng chu he myelin hi a chhe chhunzawm zel a ni. Hei hian nervous system-a hnathawh a hloh chho zel a ni. Thluak leh taksa peng dangte inbiakpawhna chu a chhe vek a.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Dik tak chuan leukodystrophy hi a awm lo hle. Leukodystrophy chi hrang hrang hi a tlem hle. Entîr nân, United States leh Canada-ah chuan leukodystrophy chi hrang hrangte chu a vaiin nau piang nung 6,000 zînga pakhat leh 100,000 zînga pakhat inkar a ni. Asia ram hrang hrangah chuan nau piang nung 100,000 zinga pathum vel chauh an awm nia sawi a ni.

Leukodystrophy natna lan chhuah dan chu engte nge ni?

Hei hi a buaithlak ber a ni. A chhan chu leukodystrophy symptoms hi a inang lo thei hle. Natna chi hrang hrang a zirin a lan chhuah dan pawh a inang lo. Mahse, leukodystrophy chi tam zawkah chuan nervous system hnathawh a tlahniam zauh zauh thin . Hei hian symptom chi hrang hrang a thlen thei a ni. Mi zawng zawng hian symptoms zawng zawng hi an nei vek dawn lo.

A tlangpuiin, heng dinhmunte hian thil a nghawng thei a, chungte chu:

• Kal laiin balance: Kal tha thei lo, tlu fo thin.
• Chakna: I ke ruhte chu a hring vek ang maia inhriatna, thil chawi emaw, vawn emaw harsat.
• Cognition: Zirna, hriatreng leh ngaihtuahna seng harsa.
• Ei leh ei: Chaw ei harsa, rilru hah fo.
• Hriatna: Hriatna hloh.
• Movement leh coordination: Ke leh ke ruhte uluk taka thunun theih lohna, hna felfai taka thawh harsa.
• Thusawi: Thusawi thiam lo, thumal dik taka sawi thiam loh, emaw, thusawi thiamna hloh zauh zauh.
• Vision: Mit chak lohna, a chang chuan mit hloh vek.

Ngaihtuah teh, naupang tê i nih chuan i fate hmasawnna chu naupang dang aiin a zawi zawk mai thei. Thil thar zir te, inkhelh te, leh thusawi te chu an zawi zawk mai thei. Heng zawng zawng hi myelin a chhiat vang a ni a, thluak atanga taksa thlenga thuchah te chu a kal tha tawk lo a ni.

Leukodystrophy chi hrang hrang lian tak tak

Tunah hian zirchiangtute chuan leukodystrophy chi hrang hrang 50 chuang an hmuchhuak tawh a ni. Tin, chi thar an la hmuchhuak zel bawk. Leukodystrophy chi hrang hrang hi genetic mutation hrang hrang avanga lo awm a ni . Chu chu kan taksaa genes inthlak danglamna a ni. Tin, chi hrang hrang hian symptom hrang hrang an nei bawk. A lan chhuah tirh kum pawh hi chi hrang hrangah a inang lo.

Entirna thenkhat han en ila. Heng chi hrang hrang sawifiah nan hian hun rei tak a ngai dawn avangin a bulpui ber tlemte chauh kan sawi dawn a ni.

• Adrenoleukodystrophy (ALD): Hei hian thluak leh ruhro (spinal cord) a white matter bakah kan hormone control tu adrenal glands te a nghawng a ni. Naupan lai emaw, puitlin hma emaw atanga a lan chhuah dan a intan tlangpui. Zirna lama harsatna, mit emaw hriatna lama inthlak danglamna, kal harsa, hahna, leh taksa rihna tlahniam te ang chi thil i hmu thei.

• Adult-onset autosomal-dominant leukodystrophy (ADLD): Hei hi kum 40 emaw 50 emaw velah a lang tlangpui. Chakna, chetna leh hriatna lama harsatna a thlen thin. Thisen sang leh heart rate ang chi thil a nghawng thei bawk .

• Alexander natna: Hei hian naupangte hmasawnna a tikhawtlai a, seizure a nei a, kea kal harsatna a thlen bawk. Nau piang thar emaw, naupang tê tê emaw a nghawng tlangpui. Mahse, Alexander natna chi hrang hrang, puitlingah symptoms nei thei a awm.

• Canavan natna: 1.1.Hetiang a nih chuan naupang thang chakna pawh a tlai a, taksa a chak lo a, chaw ei a harsa a, seizure a awm a, naupang chu a rilru a hahdam lo reng a, mit hmuh dan a danglam thei bawk. Nausen lai hian symptoms a lang tlangpui. Mahse, ui natna chi hrang hrang, a hnua a lan chhuah dan a awm.

• Krabbe natna: Globoid cell leukodystrophy an ti bawk. Nausen lai atanga a lan chhuah dan hi a intan fo thin. Chung zingah chuan chak lohna, nau hnute pek harsatna, rilru hahdam lohna, than chak lohna, neuropathy ( taksa peng hrang hranga natna leh tingling), leh seizures te a tel. A châng chuan natna lan chhuahna hi a hnu lamah a lang thei bawk.

• Metachromatic leukodystrophy: Hei hi naute, naupang tê, puitlingah pawh a awm thei. Ngaihtuahna thiamna, nungchang, mit emaw hriatna lama inthlak danglamna, seizure, neuropathy, dementia (hriatrengna hloh vek), leh mitdelna a thlen thei a ni.

A chi dang tam tak a awm a, chungte chu Cerebrotendinous xanthomatosis (CTX) , Childhood ataxia with central nervous system hypomyelination (CACH) ( vanishing white matter (VWM) disease tia koh bawk ), Pelizaeus-Merzbacher disease (PMD) (mipa naupang a nghawng ber), leh Refsum natna te hi a ni.

Engvangin nge leukodystrophy hi a lo awm?

Hei hi a chhan ber chu genetic mutations a ni. Chu chu kan taksaa DNA inthlak danglamna tihna a ni. Heng inthlak danglamna te hi he venhimna khuhna myelin an tih siam dan tur emaw, a hnathawh dan tur dik tak siamna tur genes-ah te a thleng thin. He venhimna khuhna tel lo chuan nerve cell te hian hna an thawk tha thei lo.

Heng genetic mutations te hi a chang chuan nu leh pa atanga an fate hnena rochun theih a ni. Chu chu thlah kal zelah an inthleng thei tihna a ni. Mahse, a châng chuan heng mutations te hi random takin a lo awm thei bawk a, chu chu cell te an lo thang lian a, an inthen darh zel a ni.

Pawimawh tak chu mi thenkhat chuan gene mutation an nei a, chu chuan leukodystrophy a thlen a, mahse natna hi an nei lo. Carrier kan ti thin. Mahse, heng carrier te hian an fate hnenah mutation hi an pass thei a ni. Leukodystrophy thlentu gene mutation carrier i nih chuan genetic counseling i ngaihtuah mai thei . Genetic counselor chuan i chhungkaw chanchin a en ang a, i fate hnena mutation i thlen theihna tur i hriat theih nan a pui ang che.

Hei hi tichhe thei risk factors a awm em?

Dik tak chuan leukodystrophy veng thei tur risk factor bik a awm lo. Hei hi a chhan chu genetic a nih vang a ni. Mahse, hnam thenkhatah chuan leukodystrophy chi thenkhat an vei tam zawk tih hmuhchhuah a ni. Leukodystrophy chi tam zawk hian mipa leh hmeichhia a nghawng inang vek. Mahse, chi thenkhat, Pelizaeus-Merzbacher disease (PMD) te hian mipa naupang an vei ber a ni.

Engtin nge leukodystrophy hi hriat theih?

I doctor chuan i natna lan chhuah dan a zawt hmasa ang che a, i mimal leh chhungkaw hriselna chanchin a zawt hmasa ang che. Tichuan physical exam leh neurological exam an nei ang.

Test tlemte pawh i ti thei bawk:

• Nau piang thar screening exam: Ram thenkhatah chuan heng test te hi leukodystrophies chi hrang hrang hriat nan an hmang thin.
• Thisen leh hmui test ( genetic testing ): Hengte hian i DNA-a genetic mutations a hmuchhuak thei a ni.
• Imaging exams: Entirnan , MRI scan hmangin thluak leh ruhroa white matter awm dan enfiah theih a ni.

Heng test zawng zawng hi awm mahse, leukodystrophy hmuhchhuah hi a harsa thei a, a chhan chu a natna lan chhuah dan a inang lo hle. A châng chuan, leukodystrophy natna tam tak chu hriat chhuah lohvin a awm ṭhin.

Leukodystrophy hi eng enkawlna nge ni?

Hei hi kan hriat tur pawimawh ber a ni. Leukodystrophy hi damdawi a la awm lo. Mahse chu chu kan tih theih a awm lo tihna erawh a ni lo. A natna lan chhuah dan thunun nan te, nun tlem a awlsam zawk nan te, nervous system hnathawh thenkhat humhalh nan te hian thil tam tak kan ti thei a ni.

Heng enkawlnate hi a hnuaia mi ang hian a ni thei:

• Seizure, taksa ruh tightness, leh movement problems te tan damdawi .
• Nutritional therapy emaw, ei leh in leh ei harsatna atana feeding tube hman emaw.
• Adrenal gland hnathawhna lama harsatna nei tan hormone therapy hmanga enkawlna .
• Physical therapy, occupational therapy, leh speech therapy hmanga kal, balance, leh thusawi ang chi thiamna tihchangtlunna tur a ni.

Gene therapy hi leukodystrophies chi hrang hrang enkawlna thar a ni. Cell-a protein thenkhat siam chhuah dan thlak danglam turin genetic material dah luh a ni.

Stem cell transplant emaw bone marrow transplant emaw hian leukodystrophy chi thenkhat symptoms a ti tha thei a ni. Mahse, he enkawlna hi a tlem hle chauh a ni. Cerebrotendinous xanthomatosis (CTX) hi a hmaa hriat chhuah a nih chuan chenodeoxycholic acid (CDCA) an tih damdawi hmangin enkawl theih a ni.

Tin, tunah hian leukodystrophy chi hrang hrang enkawlna zawng turin clinical trial engemawzat kalpui mek a ni bawk. Chuvangin, nangmah emaw i fa emaw hian he natna hi i neih chuan i doctor nen inbiain he enkawlna thar hi i tan a tha em tih i en thei ang.

Leukodystrophy natna vei hian engzat nge dam rei zawng?

He thupui hi sawi harsa leh sensitive tak a ni. Leukodystrophy hi natna zual zel a ni a, hun kal zelah nervous system-ah harsatna a thlen thin. Leukodystrophy vei naupang tam tak chu puitlin hmain an thi thin. Mahse, mi ṭhenkhat chu puitling thlengin an nung a ni. Heng natnate hi thihna thlentu ni fo mah se, enkawlna thar leh clinical trial-te chuan he natna vei te tan beiseina engemaw zat a thlen a ni.

Kan hriat reng tur pawimawh ber berte (Take-Home Message) .

Leukodystrophy hi natna awm lo, rochun nervous system atanga lo chhuak a ni. Thluak leh ruhro chhunga nerve awmte hualtu myelin an tih, venhimna khuhna a tichhia a ni. Myelin tel lo chuan nerve te hi an inbiak tha thei lo va, chu chuan symptom hrang hrang a thlen thin.

Hei hi damdawi la awm lo mah se, a natna lan chhuah dan thunun tur leh nun awlsam zawka siam turin damdawi leh enkawlna chi hrang hrang a awm a ni. Research thar chuan heng natnate enkawlna kawngah hian hlawhtlinna a nei tih hmuhchhuah a ni. I fa medical team te chu i bulah an awm reng a, i fa enkawlna tha ber an pe thin tih hre reng ang che. Hlauthawng lo, damdawi lam thurawn lak hma leh thu dik hriat a pawimawh hle.

` Leukodystrophy, myelin, white matter, thluak lam natna, genetic mutations, naupang natna, nervous system