Alexander Disease hi i hre tawh em? He dinhmun rare tak hi han sawi ila!

Alexander Disease chungchang hi i hre tawh em? I la hre lo pawh a ni mai thei. A chhan chu khawvela neurological condition hmuh tur awm lo tak a nih vang a ni. Mahse, hetiang natna chungchangah hian hriatna engemaw zat neih hi a phu a ni lawm ni? A bik takin kan fate hriselna leh thanlenna kan ngaihtuah fo avangin hetiang thil hi kan fimkhur a pawimawh hle.

Alexander Disease hi eng nge ni? A awlsam zawngin i hrethiam ang u!

Okay, Alexander Disease hi eng nge a nih i en ang u. A awlsam zawngin, kan nervous system, taksa pum puia thuchah kengtu system tichhe thei natna a ni . A bik takin kan thluaka "white matter" a nghawng a ni. He thil var hi thluaka nerve fiber tam tak atanga siam a ni.

He natna hi natna chi hrang hrang leukodystrophy an tih zingah a tel a ni . He thumal hi a buaithlak deuhin a lang thei a, mahse thluaka thil var (white matter) tichhe thei natna a kawk a ni.

Alexander natnaah chuan a chhiatna ber chu myelin an tih hmun pakhat a ni. Myelin hi kan nerve fiber vel venhimna a ni. Electric wire vel plastic sheath ang maiin han ngaihtuah teh. He myelin sheath hian nerve message te chu awlsam leh rang taka kal theihna a siam a ni. Chuvangin, he myelin hi a chhiat chuan nerve message transmission kalphung a tibuai a ni.

Chuvângin, Alexander syndrome vei chuan harsatna chi hrang hrang a tawk thei a, chu chu a ṭhanlenna a tlai a , a rilru a buai thei a ni . Vanduaithlak takin he natna hi a zual zel a, a chang chuan nunna atana hlauhawm tak a ni. Tunah hian damdawi a la awm lo .

He natna hi engtiang chiahin nge a hluar?

Alexander natna hi natna hlauhawm tak a ni. He natna hi nau piang maktaduai khat zinga pakhat vel ah a awm nia chhut a ni . He natna hi kum 1949 khan Australian doctor Dr. W. Stewart Alexander -a’n a hmuchhuak hmasa ber a ni. Chuvang chuan Alexander natna an tih a ni.

Alexander natna chi hrang hrang a awm em?

Ni e, doctor-te chuan he natna hi a lan chhuah tan kum a zirin an thliar hrang thin. A chi hrang hrang a awm a, chungte chu:

• Neonatal type: Hei hi a tlem hle. A natna lan chhuah dan hi a dam chhung thla hmasa chhungin a lang chhuak thin.
• Nausen chi: He chi hi Alexander syndrome hmuhchhuah zinga 80% vel a ni. Kum 2 an tlin hmain symptoms hi a intan tlangpui .
• Juvenile type: Kum 2 leh 13 inkar ah hian symptoms a lang thei a, mahse kum 4 leh 10 inkar ah a langsar ber a, diagnose zawng zawng zinga 14% vel a niHetiang chi zingah hian a tel ve a ni.
• Puitling chi: Hei pawh hi a tam vak lo. Symptoms hi a tlangpuiin a na lo hle. He natna hi tleirawl hnu kum eng pawhah a awm thei . Diagnose 6% vel chu hetiang chiah hian an tla a ni.

Alexander natna hi eng nge ni?

Alexander natna vei zinga 95%-ah chuan gene pakhatah mutation a awm a . He gene hian protein pakhat Glial Fibrillary Acidic Protein (GFAP) tih siam nan a pui a ni. Vanduaithlak takin a bak 5% hri kai chhan hi hriat chian a la ni lo.

A tlangpuiin heng GFAP protein te hi an inzawm khawm a, chain sei tak tak (filaments) an siam thin. Heng chain te hian kan nervous system cell te chu chakna leh thlawpna a pe a ni.

Amaherawhchu Alexander natna vei teah chuan he GFAP protein hi a siam tha tawk lo. Chu ai chuan protein clump pangngai lo Rosenthal fibers an tih chu cell chhunga awm lohna hmunah an pung khawm zawk thin. Heng Rosenthal fibers te hi a hmaa kan sawi tawh ang khan myelin tichhetu an ni.

Tute nge he natna vei theihna sang zawk?

Dik tak chuan tu pawhin he natna hi an vei thei a ni. A tam zawkah chuan gene inthlak danglamna hi random takin a thleng a, chhan hriat lohvin a thleng thin. Naupangin he genetic change hi an nu leh pate hnen atanga rochun hi a tlem hle. Chumi awmzia chu mi tam zawkin chhungkaw history-ah he natna hi an nei lo tihna a ni.

Alexander natna lan chhuah dan chu engte nge ni?

He natna lan chhuah dan hi mi hrang hrangah a inang lo thei. Tin, natna intan kum (type) a zirin a natna lan chhuah dan pawh a inang lo.

Nausen piang tharte natna lan chhuah dan: 1.1.

Heng symptoms te hi a dam chhung thla khatnaah a lang chhuak thin.

• Hydrocephalus: Hei hi naupang thluaka tui awmkhawm a ni. Hei hian lu a ti lian thei a ni.
• Megalencephaly: Thluak leh lu lian lo deuh.
• Seizures/Epilepsy: Seizure ang chi natna a awm fo thin.
• Spasticity: Muscle a nghet lo, a flexibility a tlahniam.
• Developmental delays: Naupang kum nena inmil rate-a a thanlen loh vang. Entîr nân, kawng chakna, roll over, leh ṭhut chu a tlai thei.
• Hlawhtling lo emaw, taksa rihna tha taka tihpun loh emaw.

Nausen natna lan chhuah dan: 1.1.

Heng natna lan chhuah dan hi thla ruk chhungin a intan tlangpui a, mahse a chang chuan thla 24 hnuah emaw, kum hnih vel emaw thlengin a intan thei bawk. A natna lan chhuah dan hi nau piang thar hun laia hmuh tawh nen a inang tlangpui.

Naupangte atanga lo chhuak natna lan chhuah dan: 1.1.

Heng symptoms te hi kum 4 leh 10 inkar ah a lang tlangpui.

• Chaw ei leh tawng harsa.
• Ataxia natna: 1.1.Hei hian balance, coordination, leh movement lama harsatna, kal theih lohna emaw, thil man harsa emaw te a kawk a ni.
• Muscle lama harsatna: thil chi hrang hrang muscle stiffness (spasticity), muscle na, muscle spasms te.
• Luak chhuak fo thin.

Puitling atanga natna lan chhuah dan:

Heng symptoms te hi puitlin hun engtik lai pawhin a lang thei. Naupan laia hmuh tawhte nen an inang fo thin a, mahse khur pawh a awm thei bawk. A châng chuan heng chhinchhiahnate hian natna dang, Parkinson natna emaw, multiple sclerosis emaw ang chite ang chite chu a entawn thei a, chuvângin, a dikzia hriat chian a pawimawh hle.

Alexander natna hi engtin nge an hriat theih?

I doctor chuan uluk takin nangmah emaw, i fate symptoms te chu a enfiah hmasa ang. Chu bakah, test an ti thei bawk a, chungte chu:

• MRI scan (MRI - Magnetic Resonance Imaging): Hei hian thluaka inthlak danglamna eng pawh a zawng thei. A bik takin MRI hian white matter-ah inthlak danglamna a lantir thei a, chu chu Rosenthal fibers chhinchhiahna a ni.
• Genetic test: Hei hi thisen test a ni a, Alexander syndrome thlentu GFAP gene-ah mutation a awm leh awm loh finfiah theih a ni.

He natna hi engtin nge enkawl a nih? Engtin nge enkawl a nih?

Vanduaithlak takin Alexander-a natna hi damdawi a la awm lo . Tuna enkawlna hman mek hian natna lan chhuah dan control leh natna zual zel tihkhawtlai a tum ber a ni .

Mahse, scientist-te chuan he natna enkawlna thar zawng turin clinical trial an nei chhunzawm zel a ni. Hetiang trial hi nangmah emaw i fa emaw tan a tha em tih i doctor nen in inbia thei ang.

A lan chhuah dan azirin a hnuaia enkawlna te hi hman theih a ni.

• Anti-seizure damdawi hman tur.
• Taksa lam enkawlna, hnathawhna lama enkawlna, leh thusawi hmanga enkawlna te a ni. Chûngte chuan naupang chetna te, ni tin hna thawh theihna te, leh thusawi thiamna te a tichak a ni.
• Hydrocephalus, thluaka tui awmkhawmna tan chuan shunt surgery tih theih a ni. Hei hian thluak atanga tui tam lutuk chu a paih chhuak thin.

Alexander natna hian eng harsatna nge a thlen?

Alexander syndrome symptoms hi hun kal zelah a zual zauh zauh thei . Chuvangin damlo chuan hetiang hi a mamawh mai thei:

• Kea kalna kawnga ṭanpui thei hmanrua, wheelchair emaw, kea kal emaw ang chi.
• Nutrition tling tak hmuh theih nan tube feeding ( enteral nutrition ) pek a ngai mai thei.

He natna vei te hmalam hun (prognosis) chu eng nge ni?

Alexander syndrome vei te hmalam hun sawi lawk hi a buaithlak deuh a, mi hrang hrangah a inang lo . Natna a zual zel chuan a natna lan chhuah dan hi hun kal zelah a zual thei a, a bik takin naupangte zingah a na zual thei a ni. Natna chi hrang hrang a zirin a lan chhuah dan leh a lan chhuah hun chhung hi a inang lo:

• Nausen piang tharte chu chak lohna nasa tak nei an ni tlangpui a, mi tam tak chu kum hnih an tlin hmain an thi .
• Naupang infantile type nei te hi kum nga atanga kum sawm vel an dam thei .
• Naupang juvenile-onset type nei te hi a chang chuan kum 30 emaw 40 emaw thlengin an dam thei .
• Puitling atanga lo chhuak form nei thenkhat chuan symptoms na lo tak tak an nei a, a nih loh leh symptomatic pawh an nei thei bawk. A tam zawkah chuan he natna hian an dam chhung a nghawng lo.

Heng thute i hriat hian lungngaih hi thil pangngai tak a ni. Mahse he thu hriatna hian natna hi i hrethiam thei ang.

Alexander natna hi ven theih a ni em?

A tam zawkah chuan mithiamte pawhin Alexander syndrome thlentu gene change hi engvangin nge a awm tih chiang takin an sawi thei lo . Chuvangin, a tam zawkah chuan he natna hi ven dan tur a awm lo .

Mahse, i chhûngkuaa mi tu emaw chuan Alexander natna emaw, leukodystrophy chi dang emaw a neih chuan, genetic counselor biak chu a ṭha hle . Hei hian nakin lawka i fate’n natna an rochun theihna tur a hriatthiam theih nan a pui ang che. Preimplantation Genetic Diagnosis (PGD) tih hming pu procedure pawh i ngaihtuah duh mai thei bawk. Hei hian Alexander natna thlentu GFAP gene mutation nei lo embryo hrisel thlan a, in vitro fertilization (IVF) hmanga nausen pum chhunga dah a huam a ni.

Engtik hunah nge doctor ka hmuh ang?

Nangmah emaw i fa emaw hian Alexander natna i neih chuan heng symptoms te hi i neih chuan doctor pan nghal tur a ni :

• Balance emaw, kea kal emaw harsatna.
• Thâwk harsa, ei harsa, ei leh in, tawng harsa.
• Nausea leh luak chhuak.
• Seizures a awm thin.

Doctor hnenah eng zawhna nge ka zawh ang?

Doctor hnenah hetiang zawhna hi i zawt thei ang:

• Eng ang Alexander natna nge kei (a nih loh leh ka fa) hian ka neih?
• Enkawlna tha ber chu eng nge ni?
• Chhungkaw member dangte tan Alexander syndrome genetic test neih hi a tha em?
• Eng harsatna chhinchhiahna nge ka fimkhur tur?

A tawp berah chuan take-home message

Alexander Disease hi dam chhung zawnga awm, hmasawn zel a niDamdawi lam dinhmun a ni. Hei hi a tlem hle a, a chang chuan chhungkuaah a kal thei bawk. Genetic test hmangin he natna thlentu genetic variation hi a hriat theih a ni.

Damdawi awm lo mah se, natna lan chhuahna tihziaawmna tur leh nunphung tihchangtlun thei tur enkawlna a awm. Scientist-te chuan he natna hmuh tur awm lo damdawi tha zawk zawng turin an zirchiang chhunzawm zel a ni.

He thu hriatna hian natna hi i hriatthiam theih nan leh a tul chuan damdawi lam thurawn i lak thuai theih ka beisei. Nangmah chauh i ni lo tih hre reng la, i mamawh tanpuina i dawng thei bawk.

` Alexander natna, Thluak lam natna, Genetic Disease, Myelin, Leukodystrophy, Naupang natna