Kea kal leh thil tih harsa i nei ve em? I balance hloh ang maiin i hria em? He (Spinocerebellar Ataxia) chungchang hi kan sawi dawn em ni?

I kal laiin i ke a inzawm khawm ang maiin i hria em? A nih loh leh i kutah no pawh i chelh tha thei lo ang maiin i inhria em? I thusawi hian thu slurred tak tak pawh i hmu mai thei. Heng thilte hi vawi khat emaw vawi hnih emaw chauh ni lovin, vawi engemaw zat vawi khatah a thleng a nih chuan kan ngaihthah tur a ni lo. Vawiin hian hei hi a chhan awm thei pakhat kan sawi dawn a, chu chu `Spinocerebellar Ataxia` (`SCA` kan ti ang) tih hi a ni.

`Spinocerebellar Ataxia (SCA)` tih hi eng nge ni? A awlsam zawngin i hrethiam ang u.

Ataxia chu, a awlsam zawngin, i taksa chetna inrualrem theihna i hloh zauh zauh ṭhinna dinhmun a ni . I nervous system tichhe thei thil a ni a, hun kal zelah a na zual zel bawk. I kut leh ke i tihchet theihna te, i kal theihna te, a nih loh leh thil i chelh theihna te i hloh tawh tih han mitthla teh. Ataxia hi chi hrang hrang a awm a, a chhan leh a lan dan hrang hrang a awm.

Spinocerebellar Ataxia (SCA) hi ataxia chi dang a ni a, chu chu genetic condition a ni . I cerebellum a nghawng ber a ni . Cerebellum hi i thluak pawimawh tak a ni. I kal dan, i man dan, leh i balance vawn reng ang chi thilte a thunun a ni. A châng chuan, SCA hian i spinal cord a nghawng thei bawk .

Hei hi thlahtu a nih avangin hun kal zelah a natna lan chhuah dan hi a pung zauh zauh thin. Danglamna lian tak i hmu nghal lovang. Hei hian a nghawng ber chu i:

• Mit hnathawh dan tur atan.
• Kut hnathawhna atan (entir nan, ziak, no vawn, ei tur).
• Leg function hloh leh kal theihna hloh (loss of balance).
• I thusawi dan (thumal a inzawm khawm).

Thusawi hian nghawng a nei ber a ni.

`SCA` chi engzat nge awm?

Tunah hian doctor leh scientist ten SCA chi 40 chuang an hmuchhuak tawh a ni . He zat hi nakin lawkah a pung zel a rinawm a, zirchianna a kal zel avangin. Doctor ten heng SCA chi hrang hrangte hi number hmangin an ko thin. Entirnan, Spinocerebellar Ataxia chi khat, chi 2, leh a dangte.

Heng SCA chi hrang hrang zawng zawng hi a chhan leh a lan chhuah dan hi a tam zawkah chuan a inang vek a ni. Chuvangin engvangin nge number an nih tih i ngaihtuah mai thei. Number te hi SCA chi hrang hrang nena inzawm genetic change hmuhchhuah dan tur angin pek a ni. A awlsam zawngin sawi ila, SCA1 hi chi hmasa ber hmuhchhuah leh chromosomal problem nena inzawm, thlah kal zelah a kal zel a ni. SCA2 hi chi hnihna hmuhchhuah a ni. Chutiang chuan an hming an vuah a ni.

SCA chi khat awm tam ber chu Spinocerebellar Ataxia type 3 (SCA type 3) a ni . Machado-Joseph natna tia hriat a ni bawk .

Chuti a nih chuan, he `SCA` hi engtiang chiahin nge a awm?

Dik tak chuan he `SCA` an tih hi a tlem hle.. Chumi awmzia chu mi zawng zawng tuar thei natna a ni lo tihna a ni. Statistics atanga a lan dan chuan he natna hi mi sang za zinga pakhat (1) vel, a tam berah mi panga (5) ah a awm thin. Chuvangin a chanchin hriat fo loh hi thil pangngai a ni.

Engvangin nge he `SCA` hi kan hmuh? Eng nge a chhan?

SCA thlentu ber chu genetic mutation a ni . Chumi awmzia chu i nu leh pate hnen atanga i rochun gene-ah hian chhiatna a awm tihna a ni. Mithiamte chuan heng gene defect bikte hi SCA chi hrang hrang nen an inzawm tir a ni. Mahse, SCA chi hrang hrang hi gene mutation inang vang a ni lo va, gene hrang hranga danglamna vang a ni.

SCA chi thenkhat chu i DNA hmun bik (kan genetic information dahkhawmna hmun) atanga vawi khat dik lo taka tih nawn leh vang a ni. Hei hi damdawi lam hawi chuan trinucleotide repeat expansion an ti a. A buaithlak deuh a, mahse a awlsam zawngin sawi ila, gene pakhata hmun thenkhat chu vawi tam tak copy a nih ang mai a ni.

He `SCA` condition hi rochun a nih dan tlangpui pahnih a awm a:

1. Autosomal Dominant Rochun: 1. A rilru a hah lutuk chuan a rilru a buai em em a.

• Hei hi SCA hi rochun a nih fo dan a ni.
• Hetiang a nih chuan he mutated gene hi nu leh pa pakhat , i nu emaw i pa emaw atang chauhvin i rochun pawhin he natna hi i la nei thei tho a ni.
• Chumi awmzia chu `SCA` vei chuan fa a neih chuan chu naupang chuan he mutated gene hi a rochun theihna chance 50% a awm tihna a ni. Coin pakhatin lu a tlak theihna chance angin han ngaihtuah teh. He chance hi naupang tin tan a inang vek.

2. Autosomal Recessive Inheritance atanga lo chhuak a ni.

• Hetianga rochun `SCA` chi hrang hrang pawh a awm a, mahse tlem a tlem zawk.
• Chutiang a nih chuan mi pakhatin he natna hi a neih theih nan chuan he gene danglam tak hi a nu leh pa hnen atangin a rochun a ngai a ni.
• A tam zawkah chuan heng nu leh pa te hian symptom an nei lo. Gene kengtu mai an ni thei. Gene defect copy pakhat chauh an neih avangin natna an nei lo.

SCA natna lan chhuah dante chu engte nge ni?

SCA symptoms hi kum 18 hnuah a lang tan tlangpui a, mahse SCA chi thenkhat chu a hmain a intan thei a, thenkhat chu a hnuah a intan thei bawk. Thil lo thleng nghal mai a ni lo va, zawi zawiin, kum tam tak chhung chu a natna lan chhuah dan chu a na zual zel a ni.

Ngaihtuah teh, tea siam tura i kal a, kettle i chelh lai hian i kut a che a, tea hnah a tla a, a nih loh leh kawngpuiah i kal chuan a sir lamah i tlu mai a, i tlu mai mai a ni. Stairs i chho leh chhuk hian a harsa hlein ka hria. Heng thilte hi a thleng fo a nih chuan enkawl a pawimawh.

SCA natna lan chhuah dan tlangpui chu:

• Duh loh vanga mit chetna: 1.1.I mit chu hmun khatah i dah thei lo mai mai emaw, a sir lehlamah rang takin an tlan chhuak ang mai a ni.
• Kut leh mit inrem lohna: Entîr nân, tui glass khat ṭha taka vawn harsat, kawr button bun harsa, a nih loh leh ziak fiah harsa.
• Balance leh coordination lama harsatna: Kea kal hian awlsam taka tlu emaw, tlu emaw ang maiin i awm thei. Ding nghet a harsa thei bawk.
• Slurred speech: Slurred speech , thumal sawi dik theih lohna, thusawi chiang lo. Tongue-tied ang maiin.
• Trouble processing and remembering information / learning disabilities: Thil thar zir harsa, sawi tawhte theihnghilh thuai, leh ngaihtuahna seng harsa.
• Uncoordinated walking: Zu rui ang maia kal, i ke dinglam thei lo ang maia kal, i ke chu zau taka inzar pharh tum ang maia kal.

Heng symptoms te hi mi hrang hrangah a inang lo thei a, an nasat dan pawh SCA chi hrang hrang a zirin a danglam thei bawk.

Doctor-te hian engtin nge SCA hi an hriat theih?

Heng symptoms te hi i neih chuan doctor i hmuh hunah SCA i vei nia an rinhlelh chuan a hnuaia mite hi an test ang che a, diagnosis an siam ang:

• I chhungkaw chanchin: I chhungkuaah hian heng symptoms hi an nei tawh em tih zawhna i dawng ang a, hetiang natna vei an awm em tih emaw, SCA. He thu hi chhungkaw hrang hranga kal a nih avangin a pawimawh hle.
• I mimal damdawi lam chanchin: Natna dang i lo neih tawhte, damdawi i ei dan te, leh i nunphung te an zawt ang.
• Taksa enfiahna kimchang: Hei hian i nervous system nena inzawm chiah test te a huam ang. I balance, i kal dan, i kut leh kea chakna, i reflexes, mit chetna leh i thusawi te an enfiah ang.
• SCA nena inzawm symptom i neih leh neih loh uluk takin an enfiah ang che.

Heng thilte hnu hian test dang neih belh theih a ni a, natna hi finfiah theih a ni:

• Genetic testing: Hei hi SCA i neih leh neih loh chiang taka hriat theihna kawngpui ber a ni. I thisen sample (a nih loh leh saliva sample pawh a ni thei) lak a ni a, SCA siamtu gene chu test a ni. He genetic test hmang hian SCA chi hrang hrang tam tak hmuhchhuah theih a ni.
• Mahse, SCA chi hrang hrang a awm a, chu chu genetic mutation bik la hriat chian a la ni lo. Chuvangin chutiang hunah chuan genetic testing chauh hmangin finfiah a harsa hle.
• Chutiang a nih chuan doctor-te chuan i thluakah thil dik lo a awm leh awm loh an enfiah ang.Special scan pawh tih theih a ni. A tlangpui ber chu MRI scan (magnetic resonance imaging) a ni . Hei hian i cerebellum-a atrophy chhinchhiahna eng pawh a zawng thei. A châng chuan CT scan (computerized tomography) pawh tih theih a ni.

Tin, an chhungkuaa mi pakhatin SCA a neih avangin gene mutation hi an rochun mai thei nia ngaihte pawhin he genetic test hi an nei thei bawk. Hei hi chhungkaw din tumte tan, chu chu fa neih tumte tan chuan thutlukna siam nan a pawimawh hle thei a ni. Tin, nau piang tur a nih chuan, chu chu naupai laiin, naute hian he natna hi a nei em tih enfiah theih a ni (prenatal testing) .

He `SCA` hi damdawi a awm em? Tihdam theih a ni em?

Hei hi mi zawng zawngin kan hriat duh chu a ni. Vanduaithlak takin tunah hian `Spinocerebellar Ataxia (SCA)` tihdamna tur damdawi a la awm lo.He thu i hriat hian i lungngai mai thei a, chu chu thil pangngai a ni.

Mahse, chu chu engmah tih theih a ni lo tihna erawh a ni lo. SCA enkawlna tum berte chu:

• Symptoms tihziaawmna.
• Nunphung tihchangtlun.
• A theih ang anga rei tak mahni inrintawkna neia hnathawh theihna tura tanpui che.

`Spinocerebellar Ataxia` enkawlna atan a hnuaia mi hi tih theih a ni:

• Physical therapy: Hei hi a pawimawh hle. Physics therapist chuan exercise dik dan tur te, i taksa ruh tichak dan tur te, i balance tihchangtlun dan tur te, leh i kal dan tur siam that dan tur te a zirtir ang che.
• Occupational therapy: Nitin hna (e.g., ei leh in, incheina, ziak) awlsam zawka i thawh theih nan i boruak siam turin a pui che a, chutianga tih theihna tur technique a zirtir bawk.
• Speech therapy: Thusawi a buai emaw, thu ei harsa emaw a nih chuan speech therapist chuan a pui thei a ni.
• Chhawmdawlna hmanrua: Natna a lo zual zel a, kal a harsat deuh deuh chuan, kekawrte, kea kalna emaw, wheelchair emaw i hman a ngai mai thei. Chûngte chuan nangmah chauhin thil i tih theih nân a ṭanpui thei che a ni.
• Symptom thenkhat tihziaawmna tur damdawi: Doctor-te chuan thil chi hrang hrang, khur, rilru hahna, taksa ruh hring, mut theih lohna, leh lungngaihna ang chite tanpui turin damdawi an pe thei a ni. Mahse, heng damdawi te hian SCA hi a tidam lova, a symptoms chauh a control a ni.

Doctor leh zirchiangtute chuan SCA vei te tanpui dan tur leh enkawl dan thar leh enkawl dan thar zawngin an la zawng mek a ni. Chuvangin beiseina bansan suh.

`SCA` hmasawnna tur ven dan tur a awm em?

Hei hi mi tam takin an zawh thin a ni. Dik tak chuan tunah hian SCA venna tur kawng finfiah a la awm lo.Hei hi genetic factors avanga lo awm ber a nih avangin kan ei leh in emaw, exercise kan tih emaw hmangin a lo awm lo thei lo.

Chhungkaw thenkhat chuan an chhungkuaah he mutation hi an nei tih genetic testing an neih hnuah fa neih loh an tum mai thei. Hei hi a dinhmun dik tak chu thlah tharte hnena a thlen lohna tur kawng chiang tak awmchhun a ni. Hei hi sensitive tak, mimal thutlukna a ni. Chutiang thutlukna siam hmain genetic counselor nena inbiakna neih a pawimawh hle.

SCA vei chuan nakin lawkah eng nge a beisei theih ang?

SCA vei te hmalam hun chungchang sawi dawn chuan mi hrang hrangah a inang lo hle tih hriat a pawimawh . Thil engemaw takah a innghat a, chung zingah chuan SCA i neih chi hrang hrang, a nasat dan leh a lan chhuah tirh kum te pawh a tel.

Lungchhiatthlak takin SCA vei tam takah chuan natna hi a zual zauh zauh a, a hun hmaa thihna a thlen thin.

Engtiang chiahin nge he natna hi a kal chak tih pawh SCA chi leh a nasat dan azirin a danglam thei bawk. Chuvangin, genetic testing hian natna chu eng nge a nih chauh ni lovin, hmalam hun tur pawh a hriat theih nan a pui thei a ni.

Mi tam tak chuan natna lan chhuah hmasak ber atanga kum 10 atanga kum 15 hnuah wheelchair an mamawh mai thei. SCA vei te hian a tawpah chuan nitin hna, inbual, incheina, leh ei tur buatsaih te tanpui an mamawh thin hi thil awmze nei tak a ni .

SCA chungchangah hian ka doctor hnenah eng nge zawh belh tur?

`Spinocerebellar Ataxia (SCA),` i vei a nih chuan emaw, i chhungte zinga mi pakhatin a vei a nih chuan, i doctor hnenah heng zawhnate hi zawh a pawimawh hle:

• Eng chi `SCA` nge ka neih tak tak? (e.g. `SCA1, SCA2, SCA3`?) tih hi a ni.
• Hetiang `SCA` chi hian ka taksaah eng hnathawh nge a nghawng ber?
• He natna hi enkawl tur hian eng ang specialist (e.g. neurologist, physical therapist) nge ka hmuh ang?
• Eng chen nge medical checkup turin ka lo kal tur? Eng test bik nge ka neih ang?
• Tunah hian eng enkawlna nge ka neih theih? Eng nge a hlawkna?
• Hetiang dinhmun hian ka dam chhung a ti tawi thei em? (Hei hi zawhna zawh harsa tak a ni a, mahse hriat a pawimawh hle.)
• Ka fate hian he dinhmun hi an rochun theih em? Chutiang a nih chuan engtiang chiahin nge a nih?
• Ka chhungkaw member dang (e.g. unau, naupang) te genetic testing neih tir hi a tha em?
• Hetiang dinhmun ka hmachhawn theihna tur leh rilru lama chak taka ka awm theihna tura min pui thei tur support group eng ang nge i hriat? Sri Lanka ramah hian hetiang pawl hi an awm em?

Heng zawhnate hi zawh hreh suh. I dinhmun i hriatthiam poh leh i dinhmun chu i tan nunpui a awlsam zawk ang.

SCA nena nun that theih nan eng nge ka tih ang?

SCA i vei tih i hriat chuan zawhna tam tak, hlauhna, lungngaihna leh thinrimna i neih hi thil pangngai a ni. Mi zawng zawng tan a inang vek. Nangmah chauh i ni lo. A hnuaia thilte hian he dinhmun khirh tak hi i hmachhawn theih nan leh tlem a ṭha zawkin i enkawl thei ang:

• I rintlak leh i hnaih ber (chhungte, ṭhiante) hnen aṭangin ṭanpuina leh ṭanpuina dil rawh . Heng thilte chauh hi buaipui suh. I rilru put hmang chu an hnenah hrilh rawh.
• I enkawlnaah hian active takin tel ve rawh . Doctor appointment-ah kal la, a thupekte ngun takin zawm la, zawhna i neih apiang zawt la, physical therapy ang chi thil ti rawh.
• Mental health counselor emaw psychiatrist emaw nena inbiakna neih hi ngaihtuah rawh . He dinhmun hmachhawn turin an pui thei che a, hmachhawn dan tur an zir thei che a, rilru lama chak zawk turin an pui thei che a ni.
• I rilru put hmang chu bottle-ah dah suh, ngaihthah suh . I lungngaih chuan tap la, i thinrim chuan sawi chhuak rawh (mahse midang tibuai lo zawngin).
• A theih chuan nangmah ang bawka harsatna tawk mek midangte nena inhmuh theihna tur support group-ah tel ve rawh . Hei hian mahni chauha inhriat loh nan a pui ang a, midangte thil tawn a\angin i zir thei bawk ang.
• Beiseina dik tak nei rawh . I tih theih leh theih loh hrethiam rawh. Thil engemaw i bânsan a ngai mai thei a, chuvangin chutiang tur chuan inbuatsaih rawh.
• Tûn hmaa i tih theihte i tih theih loh chu lungngai lovin, i la tih theihte chu ngaihtuah zâwk rawh . Thil tenawm tak takah pawh hlim taka awm tum ang che.
• Ei leh in tha leh tha tak ei la, a theih ang anga exercise la la, mut tam rawh. Heng thilte hi i hriselna pum pui atan a tha hle.

SCA hi i nunah thil pakhat chauh a ni tih hre reng ang che. A sawifiah kim vek che suh. Chhungkaw hmangaihna nei tak, ṭhiante leh i la tih theih thilte i la nei reng a ni.

Chuti a nih chuan, he thawnthu atang hian eng nge kan hruai haw ang?

Spinocerebellar Ataxia (SCA) hi genetic condition a ni a, thluak a nghawng a, a chang chuan ruhro a tichhe bawk. Taksa balance leh coordination of movement a nghawng ber a ni. Hun kal zelah a dinhmun a chhe zauh zauh thin.

A pawimawh ber chu:

• Tunah hian SCA damdawi chiang tak a la awm lo . Mahse, natna lan chhuah dan control nan leh nun awlsam zawk nan enkawlna (physical therapy, assistive devices, leh damdawi te ang chi) a awm a .
• `SCA` nena inzawm symptoms i neih chuan doctor advice dil nghal rawh . Diagnosis hmuh hmasak hian enkawlna i tan tir thei a ni.
• Hei hi genetic condition a nih avangin chhungkaw tan chuan hei hi hriat a pawimawh a, a tul chuan genetic counseling leh testing neih a pawimawh bawk .
• SCA nena nun hi thil harsa tak a ni. MahseDamdawi lam thurawn dik tak, chhungkaw puihna leh rilru chakna te nen chuan he zinkawng hi tihhlawhtlin theih a ni.

Hemi chungchanga zawhna dang i neih chuan doctor nen inbiakna neih hreh suh.

` Spinocerebellar ataxia, SCA, ataxia, balance, nervous system, genetic natna, cerebellum, Machado-Joseph natna