I fa hian heng symptoms te hi a nei em? Pelizaeus-Merzbacher Disease (PMD) chungchang hi han sawi ila!

Pelisseus-Merzbacher natna, a tawi zawngin PMD tih hi i hre tawh em? I fa tê tê chu a ṭhanlenna a tlai a, kea kal a harsat a, a nih loh leh thil dang danglam tak a nei tih i hre tawh mai thei a, i lungngai hle mai thei. Hei hi a takah chuan thil awm lo tak a ni. Chu chu mi tam takin an hmuh tur a ni lo tihna a ni. Mahse i hriat chian a pawimawh a, a bik takin i chhungkuaa tu emaw chuan heng harsatna hi a lo tawk tawh a nih chuan.

Pelisseus-Merzbacher natna (PMD) hi eng nge ni? A awlsam zawngin i hrethiam ang u!

A awlsam zawngin sawi ila, Pelizaeus-Merzbacher Disease (PMD) hi natna hlauhawm tak a ni a, chu chu genetic a ni fo , chu chu thlah khat atanga thlah dangah a kai theih tihna a ni a, chu chuan i thluak leh i ruhro (i ruhro hnuai lama kal nerve bulpui) a nghawng a ni. A bik takin chetna lama harsatna a thlen a, chu chu kea kal, tlan, leh zuang, leh taksa ruh hnathawh te a ni.

Kan taksaa electric wire awm ang maiin han ngaihtuah teh. Heng wire te hi kan thluak atanga thuchah kan taksa pum puia a kalna hmun a ni. PMD-ah chuan chu nerve chhehvela protective covering myelin an tih chu a lo thanglian tawk lo. Myelin hi electric wire-a plastic sheath ang a ni. Nerve message te chu rang tak leh dik taka kal theihna tura siamtu a ni. Chuvangin he myelin sheath hi a tlahniam chuan nerve messages transmission-ah harsatna a awm thin.

PMD vei thenkhat chuan an hmasawnna a tlai thei bawk a, chu chu an kum a zirin an zir tlai thei tihna a ni. PMD hi natna zual zel a ni. Chumi awmzia chu hun kal zelah symptoms a na zual thei tihna a ni.

He natna hian engtin nge kan taksa a nghawng? (Leukodystrophy tih hi eng nge ni?)

PMD hi genetic disorder a ni a , natna chi hrang hrang leukodystrophies an tih zingah a tel a ni . Heng natnate hian kan nervous system-a white matter a nghawng a ni. He white matter hi myelin-coated nerve fibers awmna hmun a ni. Chuvangin PMD ah hian kan taksa hian myelin a siam tling lo a, chu chuan he white matter hi a tichhe thin. Hei vang hian thluak atanga taksa peng dang hnena thuchah lo lutte hi a kal tha tawk lo.

Ngaihtuah teh, thuchah kengtu chuan kawng dik a zawh loh chuan chu thuchah chu kawngpuiah a tang thei a, a nih loh leh hmun dik loah a kal thei a ni lawm ni? Chu chu myelin a bo chuan kan nervous system-ah a thleng thin.

Tute nge PMD vei tam ber?

PMD hian mipa leh mipa a nghawng tam ber . Hei hi X-linked genetic disorder a nih vang a ni . Chumi awmzia chu he natna thlentu mutation hi X chromosome-ah a awm tihna a ni. I hriat angin hmeichhia hian X chromosome pahnih an nei a, mipa erawh chuan X chromosome pakhat leh Y chromosome pakhat an nei thung.

Chuvangin, hmeichhiain X chromosome pakhatah he genetic mutation hi nei mahse, X chromosome hrisel dang avang hian a symptoms chu a na lo mai thei. Natna hi a lo awm lo thei a ni. Mahse mipain a X chromosome awmchhunah he mutation hi a neih chuan natna kai theihna a sang zawk.

Pelissaeus-Merzbacher natna chi hrang hrangte chu engte nge ni?

Pelisseus-Merzbacher natna hi chi hnih a awm a, chungte chu:

1. Classic Pelizaeus-Merzbacher natna a ni

Hei hi a tam ber chi a ni . Naupang dam kum khatnaah hian natna lan chhuah dan a intan tlangpui . Classic PMD hian taksa ruh leh chetna lama harsatna a thlen ber. Entîr nân, naupang chu a ke a chhe thei a, a kal a slow thei a, a nih loh leh inthlauhna vawng reng a harsat thei bawk.

He classic PMD vei te rilru lama theihna, chu chu zir leh hriat reng theihna hi tleirawl lai thlengin a lo thang lian tlangpui. Mahse chutih hunah chuan chu hmasawnna chu a tawp mai thei. Tleirawl hnuah chuan rilru lama theihna a tlahniam zauh zauh thei a ni.

2. Nau piang chhuak Pelizaeus-Merzbacher natna

Hetiang chi hi a tlem hle a , a na zawk bawk . Hetiang chiah hian nausen laiin, nau piang atanga thla engemaw zat chhungin, chetna lama harsatna nasa tak, than chak lohna, ei leh in lama harsatna, leh seizures te hi a lang thei a ni.

Naupang pianpui PMD nei te hian kal an zir ngai lo tlangpui . Tin, mi tam tak chuan tawng harsa an ti bawk. Amaherawhchu, mi dangte thusawi chu an hrethiam thei a ni. Hei hi dinhmun vanduaithlak tak a ni.

He natna hi PMD an tih hi engtiang chiahin nge a hluar?

Sawi tawh ang khan Pelizaeus-Merzbacher natna hi natna hmuh tur awm lo tak a ni . United States ang ram mithiamte sawi dan chuan mipa 200,000 zinga pakhat velin he natna hi an vei a ni. Hei hi hmeichhiaah chuan a tlem zawk. Sri Lanka ramah hian hemi chungchangah hian statistics dik tak hmuh harsa hle mah se, khawvela natna hmuh tur awm lo anga ngaih a ni.

PMD natna lan chhuahna chu engte nge ni?

Pelisseus-Merzbacher natna lan chhuah dan hi mi hrang hrangah a inang lo thei a, mahse a lan dan inang deuh deuh a awm a:

• Balance problems: Kal lai emaw, ding lai emawa balance tha tak neih theih lohna.
• Hmasawnna tlai: Kum a zirin thusawi, kal leh inkhelh hun sawn.
• Chaw pek chungchanga harsatna: Chaw ei leh ei harsa. Hei hian taksa rihna a ti tlahniam thei bawk.
• Stridor: Thâwk chhuah laiin thawm ri nasa lo tak a ni.
• Involuntary eye movements (nystagmus): Mit hma leh hnung emaw, chung leh hnuai emaw, rang tak, chhunzawm zel, thunun loha inherna.
• Involuntary body tremors or jerking (dystonia): Thunun loha taksa peng hrang hrang inzawmkhawm emaw, taksa peng hrang hrang jerking emaw.
• Rihna tihpun \ha lo: Kum a zirin a \ha lo.
• Muscle weakness (hypotonia): Chak lo anga inhriatna, taksa ruh (muscle tone) tlakchhamna.

I fain heng chhinchhiahna pakhat emaw a aia tam emaw a neih chuan damdawi lam thurawn lak nghal a pawimawh hle .

Eng thilin nge PMD hi a thlen?

Pelisseus-Merzbacher natna hi PLP1 gene a mutation vang a ni tlangpui . He mutation hi nu leh pa pakhat emaw, nu leh pa pahnih emaw atanga rochun theih a ni.

Mahse, PMD vei mipa naupang 20% ​​vel ah chuan PLP1 gene mutation hi hmuh tur a awm lo. Ṭhenkhat chuan GJC2 gene ah mutation an nei thei bawk . Mi dangte chuan chhan hriat lohvin PMD an nei thei bawk. Hengte hi damdawi lama thil buaithlak tak takte chu a ni.

Engtin nge PMD hi hmuhchhuah a nih?

I fa doctor chuan an symptoms a zirin PMD a ringhlel thei. An rinhlelhna finfiah nan test eng emaw zat an ti thei ang:

• Imaging test: Heng zingah hian MRI scan hi a pawimawh ber a ni. Hei hi naupang thluak leh ruhroah myelin tlakchhamna a awm leh awm loh hriat nan hman theih a ni. Thlalak lak ang mai a ni.
• Genetic test: Heng test, thisen sample lakna hian PMD thlentu genetic mutation a awm leh awm loh a hriat theih a ni. Hei chauh hi natna hi chiang taka finfiah theihna kawng awmchhun a ni.

PMD enkawlna tur engte nge ni?

Vanduaithlak takin Pelisseau-Merzbacher natna hi damdawi a la awm lo . Mahse, chu chu kan tih theih a awm lo tihna erawh a ni lo. Enkawlna tum ber chu damlo nunphung tihchangtlun leh a natna lan chhuah dan control hi a ni .

Hemi atan hian enkawlna kawng hrang hrang hman theih a awm a:

• Damdawi: Muscle spasms leh seizures tihziaawmna turin damdawi pek theih a ni.
• Physical therapy emaw occupational therapy emaw: Hengte hian naupang balance, chakna leh motor control tihchangtlun nan a pui thin. A bik takin, mahni chauha kal, inkhelh leh thil tih turin an zirtir thin.
• Mit enkawlna: A hmaa kan sawi tawh ang khan duh loh zawnga mit chetna (nystagmus) hi glasses emaw, a then phei chuan operation emaw hmanga enkawl theih a ni.
• Counselling: Rilru lam hriselna lama thurawn pe thei tur License neiDoctor hnen atanga thurawn lak a pawimawh hle. He thurawn hian hetiang genetic disease neih avanga stress leh lungkhamna lo awm thin chu i hmachhawn thei ang a, hrisel takin i hmachhawn thei bawk ang. Hei hi naupang leh nu leh pa tan pawh a pawimawh hle.

PMD hi eng prognosis nge ni?

PMD prognosis, chu chu natnain eng chen nge a nghawng dawn che a, eng chen nge i dam dawn tih chu i natna lan chhuah dan nasat danah a innghat a ni . Symptom na tak nei te hian natna hi an vei nasa zawk a, an dam rei zawk bawk.

Mahse, mi ṭhenkhat chuan chutiang natna lan chhuahna na chu an nei lo mai thei. Nun pangngaiin an nung thei a, an nitin hnathawhnaah nghawng lian tham an nei lo thei bawk. I doctor emaw nurse emaw chuan PMD hian nangmah emaw i fa emaw a nghawng theih dan tur a hriatthiam theih nan a pui thei che a ni. Beiseina chu bansan ngai suh.

PMD ven dan tur a awm em?

Vanduaithlak takin Pelisseus-Merzbacher natna hi genetic condition a nih avangin ven theih a ni lo .

Mahse, PMD i neih chuan, emaw, natna kengtu i nih i rin chuan (chu chu i chhungte zinga mi tu emaw chuan he natna hi a vei a nih chuan), genetic testing hi i ngaihtuah mai thei

Genetic testing hmangin PMD thlentu gene mutation i nei em tih a hriat theih. Test result hriatthiam nan genetic counselor nen in inbia thei a, i fate’n he natna hi an rochun theihna tur i risk chu eng nge ni tih i hre thei bawk. Hei hian nakin hun atana ruahmanna siamna kawngah nasa takin a pui thei a ni.

I doctor zawh tur zawhna

Nang emaw i fa emaw hian Pelisseus-Merzbacher natna i nei a nih chuan, emaw, i rinhlelh chuan i doctor hnenah heng zawhnate hi i zawt thei ang:

• Eng thilin nge ka fa/kei hi Pelisseus-Merzbacher natna vei tam ber?
• Pelisseus-Merzbacher natna hi eng test nge hman thin?
• Pelissaeus-Merzbacher natna hi eng enkawlna nge ni? Ka fa/kei tan eng enkawlna nge tha ber?
• Ka fate hian Pelisseus-Merzbacher natna hi ka hnen atanga an rochun theihna chance chu engzat nge ni?

Heng zawhnate bakah hian i thil ngaihtuah zawng zawng, i hlauhthawn leh rinhlelhna i neih apiang chu i doctor nen inbia ang che. I rilruah engmah bottle-ah dah suh.

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

I fain Peliseus-Merzbacher natna a vei tih i hriat chuan mangang leh lungngaih hi thil pangngai tak a ni. Mi zawng zawng chungah a thleng thin. Nangmah chauh i ni lo tih hre reng ang che .

PMD enkawl dan hi natna chi leh a lan chhuah nasat dan azirin a inang lo. PMD vei thenkhat chuan symptoms na lo tak tak an nei a, chuvangin an theihna leh dam chhung hi a nghawng nasa lo hle.

I doctor nen thawk ho la, nangmah leh i chhungte tana tha tur enkawlna ruahmanna siam rawh.Thu hriat dik, thlawpna, leh hmangaihna i neih chuan he harsatna hi i hmachhawn thei a ni. Thil \ha ngaihtuah tum fo ang che.

` Pelisseus-Merzbacher natna, PMD, genetic natna, myelin, nervous system, naupang enkawlna, hmasawnna tlai lutuk