I fa hian heng symptoms te hi a nei em? Ataxia-Telangiectasia (AT) chungchang hi han sawi ila!

I fa tê tê chu a kal laiin naupang dangte aiin a tlu tam zâwk em, a nih loh leh a inthlauhna vawng reng tûrin harsatna a nei niin a lang em? A mitmeng var emaw, a hmuiah emaw chuan rulhut sen te te te a nei thin em? Hengte hi thil tenawm tak tak, kan ngaihthah fo thin a ni a, mahse, `Ataxia-Telangiectasia (AT) tih hming pu genetic condition hmuh tur awm lo tak chhinchhiahna hmasa ber a ni thei. Chuvangin, hei hi thupui buaithlak deuh mahse, i hriatthiam theih tur awlsam takin i sawi dawn nia.

`Ataxia-Telangiectasia (AT)` tih hi eng nge ni tak tak?

A awlsam zawngin, `Ataxia-Telangiectasia (AT),` mi thenkhatin `Louis-Bar Syndrome,` tia an hriat bawk hi genetic condition hmuh tur awm lo tak a ni a, a bul berah chuan kan nervous system, thluak, spinal cord, leh taksa pum pui atanga thuchah kengtu nerve network leh immune system, natna laka kan taksa humhimtu te a nghawng a ni.

Hei hi `(neurodegenerative)` dinhmun a ni. Chu chu hun kal zelah kan nervous system-a cell te chu an chak lo zauh zauh a, an hnathawh a tlahniam tihna a ni. Tun hmaa machine hnathawk tha tak chu zawi zawiin a upa a, a part te chu a chhe vek a, hna a thawk tawh lo ang maiin han ngaihtuah teh. Heng nerve cell te hi an chak loh chuan `(ataxia)` an tih condition a lo awm a, chu chu taksain kum naupang takah balance a hloh a, chetna a mumal lo. Chuvang chuan "ataxia" tih hi a ni.

A lan chhuah dan ber dang chu telangiectasia a ni. Hei hi mit var chungah, a chang chuan hmui leh beng bulah thisen kalna kawng sen te te, thread ang maia lo lang thin a ni. Hengte hi a tlangpuiin a na lo hle a, mahse natna chhinchhiahna a ni.

He natna hi tuin nge nei thei ang?

`Ataxia-Telangiectasia (AT)` hi genes inthlak danglamna avanga lo awm a ni a, chu chu `gene mutation` tihna a ni. Hei hi tu pawhin an rochun thei a ni. Mahse, engtin nge i hriat? He natna hi naupangin he `ATM` gene hi nu leh pa hnen atanga mutated copy a dawn chauhvin a awm thin. Damdawi lamah chuan hei hi `(autosomal recessive)` inheritance kan ti a.

Nu leh pa pahnihte hian he mutated gene copy pakhat chauh an nei ang tih han ngaihtuah teh. Tichuan symptoms an lantir dawn lo, a chhan chu natna lo awm tur chuan mutated gene copy hnih a ngai a ni. Mahse he gene hi "carrier" an ni ang. Chuvangin, nu leh pa pahnih carrier atanga naupang chuan he mutated gene copy pahnih hi a dawng thei a ni. Chutiang a nih chuan naupang chuan `AT` condition a nei ang. United States-a statistics atanga a lan dan chuan chu ram mipui 1% vel chu he `ATM` gene mutated copy hi kengtu an ni.

`Ataxia-Telangiectasia (AT)` hi engtiang chiahin nge a awm?

Hei hi natna hmuh tur awm lo tak a ni . Khawvel pumah mi 40,000 atanga 100,000 zinga pakhat velin he natna hi an vei nia chhut a ni. Hei hian Sri Lanka-ah pawh a tlem hle tihna a ni.

He natna hian engtin nge naupang taksa a nghawng?

Ataxia-Telangiectasia (AT) hi natna a ni a, hun kal zelah a zual zel a.Chu chu hun kal zelah a symptoms a pung tihna a ni. Naupang `AT` vei chu kum 5 vel atang hian a lan chhuah tan tlangpui.

A lan chhuah hmasak ber chu chetna lama harsatna a ni.

• Ka kal lai chuan ka ke a inzawm khawm ang maiin ka balance a .
• A taksa pengte chu a pianphung lo takin a rawn inher chhuak a.
• Muscle te chu a inher chhuak mai mai.
• Ka thusawi hian ka thusawi chu a inzawm khawm a, thusawi harsa ka tih ang maiin ka hria .

I fa chu a lo puitlin a, tleirawl a nih chuan, a kal theih nân wheelchair ang chi mobility aid a mamawh mai thei. Hei hi nu leh pate tan chuan a harsa thei tih ka hrethiam a, mahse he dinhmun hi hriat chian a pawimawh hle.

`Ataxia-Telangiectasia (AT)` natna lan chhuah dan chu engte nge ni?

A hmaa kan sawi tawh ang khan he natna lanchhuahna lian ber pahnih a awm a, chungte chu:

1. Movement inrualrem harsa (ataxia) : Kea kal harsa, balance hloh, etc.

2. Mit leh vunah thisen kalna sen te te (telangiectasia) : Hengte hi mit, hmui leh beng var ah te hmuh tur a awm tlangpui.

Hei bakah hian `AT` condition-ah hian movement-related symptom dang engemaw zat hmuh tur a awm bawk:

• Kea kal harsa (hei hi a lan chhuah hmasak ber pakhat a ni).
• Mit chu a sir lehlamah sawn theih lohna ``oculomotor apraxia`` emaw mit chetna pangngai lo ``nystagmus`` emaw.
• Duh loh vanga, jerky movement (chorea).
• Muscle a inthlak danglam (myoclonus).
• Zawi zawiin nerve hnathawh a hloh (neuropathy).
• Slurred speech : Naupang tam tak chuan thumal dik taka sawi leh an thusawiah emphasis dik tak hman an harsat thin. Chuvang chuan an thusawi chu "normal" thusawi angin a ri lo.
• Balance lama harsatna awm thei .
• Growth retardation emaw endocrine system dysfunction: He natna hi natna kai fo leh growth hormone inthlak danglam vangin a zual thei a ni.

Ataxia-Telangiectasia (AT) hi mi pakhat taksa hriselna tichak lo thei natna a ni . He chak lohna hi hun kal zelah a pung zel a. Immune system chak lo tihna symptoms te chu:

• Chronic lung infection awm fo thin.
• Chau tih hriat reng (chau lutuk).
• Midang aiin natna rang zawk .
• Infection neih fo leh hliam dam zawi zawia awm.
• Cancer vei theihna a sang a, chu chu `Leukemia` (thisen cancer) emaw `Lymphoma` (lymph nodes cancer) emaw a ni.
• Radiation exposure (e.g. X-rays) avanga sensitivity lutuk.

Symptom dang chu thisenah hian protein pakhat `alpha-fetoprotein (AFP)` an tih level a sang chho zel a ni. Hetianga `AFP` level a san chhan dik tak hi hriat a la ni lo.

Eng thilin nge `Ataxia-Telangiectasia (AT)` a thlen?

He natna hi ``ATM'' tih gene-a mutation avanga lo awm a ni.

Tunah chuan heng gene leh chromosome te hi eng nge an nih awlsam takin kan en ang u. Kan taksa thanlenna tur thupek zawng zawng awmna lehkhabu lian tak a awm ang tih han ngaihtuah teh. Chu lehkhabu chu `DNA` tih a ni. He `DNA` bu bung hrang hrangte hi `genes` an ti a. He `DNA` hi thil `chromosomes` an tih chhungah hian dahkhawm a ni. A tlangpuiin mihring pakhat hian chromosome 46 a nei a, chungte chu pair 23-ah an inrem a ni. Heng chromosome pair siam tur hian kan nu hnen atangin pakhat kan hmu a, pakhat chu kan pa hnen atangin kan hmu bawk.

Reproductive organs-a cell te an lo pian chuan heng cell te hi an inthen darh a, anmahni copy an siam thin. A châng chuan, printer-in lehkha a jam ang maiin, heng cell-te hian an gene-ah tihsual an nei thei a, chu chu mutations an ti a ni. Thupek copy ṭhenkhat chu a awm ang chiaha siam a ni a, ṭhenkhat chu siam dik lo a ni bawk.

Kan sawi tawh ang khan he mutated gene hi ``autosomal recessive`` pattern-a inherit a ni. Chumi awmzia chu nu leh pa pahnih hi he mutated ``ATM`` gene kengtu an ni a, an pahnih hian mutated gene hi an rochun chuan naupang chuan natna hi a vei dawn tihna a ni. Nu leh pa pakhat chauh atanga lo chhuak a nih chuan naupang chu carrier chauh a ni ang a, symptoms a lantir lo ang.

He `ATM` gene hi a pawimawh hle. A chhan chu taksain kan `DNA` a chhiat huna a siam that dan tur hrilhtu protein a siam chhuak a ni. `ATM` protein hi detective ang mai a ni. Cell chhia leh `DNA` fragment te zawng chhuakin, siamthatna atana mamawh `(enzymes)` rawn kengtu an ni. He `DNA` siamthatna avang hian kan taksa zirtirna bu phek te hi a inthlak tha hle a ni.

Tin, `ATM` protein hian kan nervous system leh immune system te hnenah, "I hnathawh dan tur dik tak i mamawh a ni," a ti bawk. Chuvangin, `ATM` gene-a mutation a awm chuan hun kal zelah `ATM` protein hnathawh chu a tlahniam ta a ni. Chumi awmzia chu cell te hian an instruction manual thenkhat an hloh a, an thawk tha thei lo tihna a ni. Chu chu `Ataxia-Telangiectasia (AT)` natna lan chhuah chhan ber a ni. Hrethiam e?

Engtin nge `Ataxia-Telangiectasia (AT)` hi hriat theih?

Doctor chuan i natna lan chhuah dan enfiahin a tan ang a, imaging test leh thisen test hmangin i natna lanchhuahna thlentu genetic mutation chu a hriat chian ang. I doctor pawhin i fa hriselna leh chhungkaw medical history chipchiar takin a en ang a, chu chuan a natna chu a enfiah ang. AT i vei nia i rinhlelh chuan immunologist pan a, full evaluation neih a pawimawh.

`Ataxia-Telangiectasia (AT)` tih hriat nan eng test nge hman thin?

He natna hi hriat theihna tura pui thei tur test engemaw zat a awm a:

• Genetic testing : Hei hi thisen test a ni a, i symptoms thlentu genetic mutation bik chu a finfiah thei a ni.
• Magnetic Resonance Imaging (MRI) : MRI scan hian thluak thlalak a la a, nerve cell emaw cerebellum cell chak lohna (cerebellar atrophy) chhinchhiahna a zawng thin. Hei hi ataxia a na zual zel tih hriattirna a ni.
• Karyotyping : Hei hi thisen test a ni bawk. Chromosomes te chu a enfiah a, genetic condition a hriat theih nan a hmang thin.
• Thisen test : Thisen test-ah hian alpha-fetoprotein (AFP) level sang leh sang a awm leh awm loh enfiah thin a ni.

Ram tam takah chuan nau piang thar screening hmangin Ataxia-Telangiectasia (AT) natna hi an hmuchhuak thin. Chutiang a nih loh chuan doctor-te chuan naupan lai atang tawhin he natna hi an hmuchhuak tlangpui.

`Ataxia-Telangiectasia (AT)` enkawl dan tur chu engte nge ni?

`Ataxia-Telangiectasia (AT)` enkawlna hi a natna lan chhuah dan control nan chauh a ni . He natna hi damdawi a la awm lo . Enkawl dan tur chu mimal tinte a ni a, naupang hrang hrangah a inang lo thei tihna a ni. Chung zingah chuan:

• Telangiectasia control tur chuan, chu chu vunah thisen kalna kawng network a ni a , ni chhuahna tam lutuk pumpelh tur a ni .
• Cancer a lo awm chuan , chemotherapy hman a ni.
• Physical therapy hmanga taksa ruh tichaktu.
• Thluak lam natna nei tan gammaglobulin injection lak.
• Immune system chak lo tak thlawp turin immunoglobulin therapy dawng.
• Infection enkawlna atana antibiotics ei.
• Thusawi harsatna leh duh loh vanga taksa ruh chetna control nan Diazepam ang chi damdawi ei.

Ka fain `Ataxia-Telangiectasia (AT)` a vei theihna tur chu ka tihtlem thei ang em?

`Ataxia-Telangiectasia (AT)` hi genetic mutation atanga lo chhuak a nih avangin a lo awm lo tur ven dan tur a awm lo . Mahse, a tlangpuiin, genetic disorder nei fa i neih theihna tur tihziaawmna tur thil i tih theih a awm a, chu chu zu in loh leh chemical nena inhriat lohna te hi a ni. Naupai i tum a nih chuan `Ataxia-Telangiectasia (AT)` ang chi genetic disorder nei fa neih theihna tur i hriat theih nan i doctor nen genetic counseling chungchang sawipui a tha.

`AT` nei fa ka neih chuan eng nge ka beisei ang?

Ataxia-Telangiectasia (AT) hi natna a ni a, hun kal zelah a zual zel a. I fate chetna tichhe thei symptoms na lo tak takte chu naupan lai atang tawhin a intan a, chubakah vunah thisen kalna kawng (blood vessel network) hmuh theih te pawh a awm bawk. Naupang a lo upat deuh deuh chuan an cell te hian instruction manual angin hna an thawk thei tawh lo. Chumi awmzia chu naupang natna lan chhuah dan chu a na zual zel tihna a ni a, puitlin hun an thlen meuh chuan wheelchair hman a ngai fo mai thei.

Hetiang dinhmun chhinchhiahna pakhat chu taksa hriselna chak lohna a ni a, chuvangin natna tenau tak pawhin naupang hriselnaah nghawng lian tak a nei thei a ni.

Immune system chak lo chuan cancer vei theihna a tipung bawk a, chu chu leukemia emaw lymphoma emaw a ni. Mahse, immune system hnathawh thatna tur enkawlna a awm a, chu chuan i fa chu a hrisel theih nan a pui thei a ni.

AT dam rei zawng hi a natna lanchhuahna nasat dan azirin a inang lo. Mahse, he natna vei tam zawk hi puitling naupang (kum 30 vel, a vaiin kum 25) thlengin an nung a ni. Hri kai tlangpui enkawl hmasak leh cancer venna atana screening neih hian dam rei zawng a ti rei thei a ni.

`Ataxia-Telangiectasia (AT)` tihdamna a awm em?

Ni lo, `Ataxia-Telangiectasia (AT)` hi damdawi a la awm lo . Enkawlna hian natna lan chhuah dan tihziaawm a, natna vei tinte nun awlsam zawk siam a, an dam rei theihna tura puih a tum a ni.

Engtin nge `AT` hmang hian ka fa ka enkawl ang?

I fain `Ataxia-Telangiectasia (AT)` a vei tih i hriat chuan a natna awmzia kimchang hriatthiam a harsa thei a, i fa tanpui dan tur dik tak hriat a harsa thei bawk. I fa doctor chuan a natna lan chhuah dan ang zela enkawl dan tur ruahmanna a siam ang a, zawhna i neih apiang chhan turin a awm reng ang.

I doctor pawhin genetic counselor hmu turin a rawt thei bawk . Genetic counselor te hi genetics lama mithiam tak an ni. Anni hian i chhungte chu Ataxia-Telangiectasia (AT) chungchang zir belh turin an pui thei a, i fa chu nun nuam leh hlim taka awm turin an pui thei bawk. I fain natna a hriat chhuah huna i hmachhawn theih lungkhamnate chu i hmachhawn theih nân an ṭanpui thei bawk che a ni.

Engtikah nge Doctor ka hmuh ang?

Ataxia-Telangiectasia (AT) hian taksa hriselna a nghawng avangin, i fain natna kai chhinchhiahna a lantir chuan , doctor pan nghal tur a ni a, enkawl tur a ni. Infection chhinchhiahnate chu:

• Hri kai awmna hmunah vun rawng a danglam.
• Chills a awm.
• Khuh.
• Khawsik.
• Taksa peng khat emaw, taksa pumpui emawa natna emaw, hliam emaw hriatna.
• Taksa khawi emaw laiah a hring chhuak.
• Thâwk a tawi.
• Luak chhuak emaw, luak chhuak emaw.

Doctor hnenah eng zawhna nge ka zawh ang?

• Ka fa taksa chakna tichak turin physical therapist ka hmu tur em ni?
• Ka fa natna lan chhuah dan tur enkawl dan tur min pek atang hian side effect a awm em?
• Mutated gene carrier ka nih chuan `Ataxia-Telangiectasia (AT)` vei fa neih ka hlauhawm em?

I fain `Ataxia-Telangiectasia (AT)` a natna a hmuhchhuah dan hriatthiam hi enkawltu i tan chuan thil harsa tak leh lungkhamthlak tak a ni thei. Mahse, i doctor chuan i fa natna lan chhuah dan ang zela enkawl dan tur tha tak a pe ang che. A pawimawh ber chu i fate chu an dam chhung zawnga an mamawh hmangaihna leh thlawpna pek hi a ni. Tin, natna lanchhuahna thar lo lang apiang chu hre reng la, enkawl vat la, i fa dam rei thei ang bera tih tum ang che.

## Thil pawimawh hriat reng tur (Take-Home Message)

Ataxia-Telangiectasia (AT) hi genetic disorder awm lo tak a ni a, naupang leh an chhungte chungah nghawng thui tak a nei thei a ni. Chumi chungchang kan hriat hunah hlauhna leh lungkhamna neih hi thil pangngai a ni.

• A hmaa chhinchhiahna hriat a pawimawh : I fa kal dan, balance, tawng harsa, emaw vun/mit-a hmun sen mak tak tak i hmuh chuan damdawi lam thurawn zawng rawh.
• Hei hi damdawi awm lo mah se, a lan chhuah dan chu enkawl theih a ni : enkawlna leh puihna service dik tak chuan naupang nunphung a tichangtlung thei a, an dam chhung pawh a ti rei thei bawk.
• I immunity enkawl rawh : `AT` vei naupangte hi natna kai theihna a sang zawk. Chuvangin hri kai chhinchhiahnate hre reng la, enkawl vat rawh.
• Nangmah chauh i ni lo : Nang leh i fa hian doctor, genetic counselor, leh support group te hnen atangin in mamawh puihna in dawng thei ang.
• Hmangaihna leh \anpuina hi thil pawimawh ber a ni : I hmangaihna, dawhtheihna leh \anpuina te hi he zin chhung hian i fa tan thil hlu ber a ni.

He thu hian he dinhmun khirh tak hi hriatthiamna engemaw chen i neih theih nan a puih ngei ka beisei. Zawhna dang i neih chuan doctor biak hreh suh.

` Ataxia-telangiectasia, AT, Louis-Bar syndrome, genetic diseases, nervous system, immune system, chetna lama harsatna, natna hmuh tur awm lo, naupang natna