I fa taksa ruh a chak lo chho zel em? Hei hi Spinal Muscular Atrophy (SMA) a ni thei bawk.

I fa tê tê chu naupang dangte aiin a beidawng a, a ke leh ke a che tlem tih i hmu tawh em? A tan chuan a kawr nghet taka vawn chu a harsa em? A nih loh leh, i fa upa zawk chu kea kal, tlan, a nih loh leh zuang chu a harsat hle niin a lang a, a taksa chu a chak lo zual zel em? Nu emaw pa emaw angin heng thilte hi i hmuh hian hlauhna leh lungkhamna i neih hi thil pangngai tak a ni. Vawiinah hian hetiang natna lan chhuahtir thei, mahse kan ramah hian sawi tam vak lo, mahse fimkhur a pawimawh hle. Chu chu Spinal Muscular Atrophy , keini doctor-te’n a tawi zawngin (SMA) kan tih hi a ni.

A awlsam zawngin, he SMA hi eng nge ni?

Spinal Muscular Atrophy (SMA) hi genetic (inherited) natna a ni a . Chu chu nu leh pa atanga fate hnena inthlunzawm tak a ni tihna a ni. He natna hian kan taksa nervous system a nghawng a, kan taksa ruhte chu zawi zawiin a chak lo va, a tichhe vek a ni. Damdawi lamah chuan hei hi (atrophy) kan ti thin.

Hei hi tlem tal i hrethiam zawk ang u. Kan taksa ruhte hi light bulb ang maiin han ngaihtuah teh. Heng bulb te hi a eng theih nan switch atang hian wire hmangin electric a lo chhuak a ngai a ni. Chutiang bawkin kan thluak atanga thuchah (electric ang chi) te hi ruhro (spinal cord) chhunga nerve cell chi khat (hengte hi wire ang chi) kaltlangin taksa ruh (bulb)-ah a kal a ngai a ni. Heng special nerve cell te hi lower motor neurons kan ti a .

SMA-ah chuan ruhro (spinal cord) chhunga nerve cell (motor neurons) te chu zawi zawiin an thi a. Tichuan, thluak atanga thuchah lo lutte hian taksa ruh (muscles) a thleng lo. A rah chhuah chu? Hnathawh tur thuchah chu taksa ruhte hian an dawng lo va, zawi zawiin an chak lo va, an lo reh zauh zauh thin.

SMA chi hrang hrangte chu engte nge ni?

SMA hi a inang vek lo. Doctor-te chuan a natna lan chhuah tirh kum, natna nasat dan leh dam rei zawng a zirin chi hrang hrang 5-ah an ṭhen a. He classification hi hriatthiamna hian natna chungchang hriatthiamna tha zawk i neih theih nan a pui thei che a ni.

Engvangin nge he SMA natna hi a lo awm?

Hei hi a famkimGenetic natna a ni. Chu chu environment factor emaw infection emaw avanga lo awm a ni lo tihna a ni.

Kan taksa chhunga motor neurons te hrisel taka awmtir turin protein chi khat bik a pawimawh hle. He protein siam chhuah dan tur kaihruaitu gene ber chu `SMN1` (survivor motor neuron 1) gene a ni. Naupang SMA vei chuan he `SMN1` gene-ah hian chhiatna a nei a. Chuvang chuan a mamawh protein hi taksaah siam chhuah a ni lo.

Mahse, vanneihthlak takin kan taksaah hian he protein tlemte siamtu ‘helper’ gene dang kan nei a, chu chu `SMN2` gene . Mahse a tlemte chauh a siam a ni. Natna nasat dan hi mi pakhatin `SMN2` gene copy a neih zat a zirin a inang lo. `SMN2` copy tam zawk a nih chuan symptoms a na lo zawk thei. Chuvangin mi thenkhat chuan Type 1 ang chi natna khirh tak an nei a, thenkhat erawh chuan Type 4 ang chi natna na lo tak an nei thung.

Engtin nge he natna hi rochun a nih?

SMA hi autosomal recessive pattern-a inherit a ni. Hei hi thumal buaithlak tak angin a lang thei a, mahse hetiang hian a kal mai mai a ni:

• Naupangin SMA a neih theih nan chuan nu leh pa hnen atangin `SMN1` gene chhia chu a rochun a ngai a ni.
• A tam zawkah chuan nu leh pa pahnih hi he gene dik lo hi ‘carrier’ mai an ni. Hei hian symptoms an nei lo tihna a ni a, mahse an taksaah hian he gene dik lo copy pakhat an nei tihna a ni.
• Carrier nu leh pa pahnihin fa an neih apiangin naupangin SMA a neih theihna chance 25% a awm thin.

Engtin nge SMA hi hmuhchhuah a nih?

I fain SMA symptoms a nei thei nia i ngaih chuan i tih hmasak ber tur chu doctor thiam tak pan a ni. Doctor chuan i fa natna lan chhuah dan a zawt ang che a, uluk takin i fa chu a enfiah ang.

SMA finfiah dan ber leh dik ber chu genetic testing a ni.

• Genetic testing: Hei hi thisen test awlsam tak a ni a, `SMN1` gene-a chhiatna awmte hriatchhuahna hmangin SMA vei 95% dik takin a hriat theih a ni.
• Test dang: A chang chuan, a natna lan chhuah dan chu thluak lam natna dang nen a inang a nih chuan, doctor chuan test dang engemaw zat a rawt thei bawk.
• Creatine kinase (CK) thisen test: He enzyme hi taksa ruh tichhe thei natna dangah a sang hle. Amaherawhchu SMA-ah chuan a tlangpuiin thil pangngai a ni.
• Electromyogram (EMG): Test a ni a, taksa ruh leh nerve te electrical activity tehna a ni.
• Muscle biopsy: A tlem hle a, taksa peng te tak te chu enfiah nan lak a ni.

Hei hi naupai lai hian hmuhchhuah theih a ni em?

Awle. I chhungkuaa SMA vei tawh emaw, nang leh i kawppui nen hian carrier in ni tih hriat a nih chuan naupai laiin i nausen chu he natna hi i test thei ang.

• Amniocentesis hmanga enkawl (amniocentesis) a ni.Naupai kar 14 hnuah nu pum chhungah needle nalh tak tak an pass a, nausen vel a amniotic fluid sample te tak te chu test nan lak a ni.
• Chorionic villus sampling (CVS): Naupai atanga kar 10 vel atanga tissue te tak te lak chhuah a ni.

Heng test chungchang hi i doctor nen inbiakna hmangin i hre belh thei ang.

SMA enkawlna tur engte nge ni?

Vanduaithlak takin SMA damdawi a la awm lo. Mahse, beiseina hloh suh. Kum 10 kalta aiin tunlai thil hi a danglam hle. Symptoms control nan te, i fate nunphung tihchangtlun nan te, harsatna lo thleng tur venna atan te thil tam tak i tih theih a ni. Chu bâkah, tun hnaiah natna kalphung tidanglam thei damdawi thar, hlawk tak tak a lo awm ta a ni.

1. Symptom enkawl dan leh puihna service

Chungte chuan naupang tan nitin nun a ti awlsam a, chak taka awm turin a pui bawk.

• Physical therapy: Taksa tichak turin a pui a, ruh nghet lo , leh dinhmun dik tak vawng reng turin a pui bawk.
• Occupational therapy: Naupang chu nitin hna hrang hrang, ei leh in leh incheina te chu mahni inrintawkna neia thawk turin a pui thin.
• Assistive devices: I hnungzang dik taka awm theihna tur walker, wheelchair, leh brace ang chi thil.
• Speech and swallowing therapy: Naupang ei harsatna nei te chu him taka ei leh in zir turin a pui thin.
• Chaw pek: Chaw ei a harsa hle a nih chuan chaw pekna tube chu hnar kaltlangin emaw, pum kaltlangin emaw pum chhungah direct-in dah a ni.
• Respiratory support: Thâwk lama harsatna nei tan bik machine (assisted ventilation) hman a ni.

2. Tunlai damdawi hmanga enkawlna

Hengte hian SMA enkawlnaah thil danglam tak a thlen a ni. Natna thlentu bulpui ber, protein tlakchhamna chu an sawiho a ni.

• Disease-modifying therapy: Heng damdawi te hian helper gene `SMN2` an tih chu a tichak a, chu chuan SMN protein tam zawk a siam tir a ni.
• Nusinersen (Spinraza®): Hei hi damdawi a ni a, ruhro vel tuiah inject a ni.
• Risdiplam (Evrysdi®): Hei hi nitin ei tur a ni.
• Gene thlak danglamna therapy: 1.1.
• Onasemnogene abeparvovec-xioi (Zolgensma®): Hei hi khawvela damdawi man to ber pawl a ni. SMN1 gene chhia chu SMN1 gene hrisel, hnathawk thei tak hmanga thlakin hna a thawk a ni. Naupang kum 2 hnuai lam tan vawi khat intravenous (IV) infusion a ni.

I doctor zawh tur zawhna

I fain SMA a vei tih i hriat chuan i rilruah zawhna tam tak i neih hi thil pangngai tak a ni. Engmah tikhawlo suh, i doctor hnenah zawt rawh.

• Ka fa hian eng ang SMA nge a neih?
• Hetiang chi ang hian nakin lawkah eng ang dinhmun nge kan beisei ang?
• Ka fa tan eng enkawlna nge tha ber?
• Heng enkawlnate hian side effect a nei em?
• Kan chhungkaw member dang emaw, kan fa lo awm tur emaw hi he natna vei theihna hlauhawmah an awm em? Genetic testing kan nei tur em ni?
• Naupang hian eng enkawlna kalpui zel nge a mamawh?
• Eng complication symptom nge ka hriat bik tur?

SMA diagnosis hmachhawn hi a harsa thei hle. Mahse, nangmah chauh i ni lo tih hre reng ang che. Damdawi lam thurawn dik tak, enkawlna dik tak, leh chhungkaw hmangaihna leh thlawpna i neih chuan i fate chu nun ṭha ber i pe thei a ni.