I fa taksa ruh a chak lo em? Spinal Muscular Atrophy (SMA) chungchang hi han sawi ila

I naute chu a floppy deuh tih i hmu ngai em, a nih loh leh naute dang ang bawkin an lu a chawi sang emaw, a roll over emaw a slow deuh tih i hmu ngai em? A châng chuan, naupang tê tê tlan kual, ​​tlu emaw, stairs chhoh harsatna nei emaw kan hmuh hian nu leh pa kan nih angin kan buai deuh ṭhin hi thil awmdan pangngai a ni. Heng symptoms te hi thil pawi tak chhinchhiahna a nih loh laiin, a chang chuan a hnung lamah hian kan hriat tur thil awm lo tak a awm thin. Chu chu spinal muscular atrophy, a nih loh leh damdawi lama kan sawi thin ` Spinal Muscular Atrophy (SMA)` a ni.

A awlsam zawngin sawi ila, he SMA hi eng nge ni?

Spinal Muscular Atrophy (SMA) hi genetic condition hmuh tur awm lo tak a ni a, chu chuan voluntary muscles, kan control thin muscle te chu a chak lo zauh zauh thin. Kan ruhro hnuai lam nerve cell te a nghawng ber a ni.

Hetiang hian han ngaihtuah teh. Kan thluak leh kan ruhro hian electrical signal, a nih loh leh thuchah chu kan taksa peng hrang hrangte hnenah "a che" turin a thawn a ni. He thuchah hi nerve cell bik motor neurons an tih te hian an phur a ni. Heng nerve cells te hi hrisel taka awm reng tur chuan SMN1 an tih gene atanga siam "Survival Motor Neuron" (SMN) tih protein hi a pawimawh hle.

SMA veiah chuan `SMN1` gene-a chhiatna a awm avangin `SMN` protein hi a mamawh zat a siam chhuak lo. He protein hi a bo chuan chu thuchah kengtu nerve cell (motor neurons) te chu an thi zauh zauh thin. Tichuan taksa ruhte hian signal tul an dawng lo. Muscle hman loh te chu zawi zawiin an lo reh a, an chak lo bawk. Hei hi muscle atrophy kan tih chu a ni .

SMA natna lan chhuah dan leh chi hrang hrangte chu engte nge ni?

SMA natna lan chhuah dan hi mi hrang hrangah a inang lo. Taksa chhunga `SMN` protein siam chhuah zat ah an innghat a ni. Main gene `SMN1` tih bakah hian `helper` gene `SMN2` tih kan nei bawk. He `SMN2` gene hian `SMN` protein hi engemaw zat a siam chhuak bawk. Miin `SMN2` gene copy a neih tam poh leh a natna lan chhuah dan a nem zawk thin.

SMA hi a natna lanchhuahna kum a zirin chi hrang hrang 5-ah then a ni.

Eng thilin nge SMA hi a thlen?

SMA hi genetic condition a ni a, thlah khat atanga thlah dangah a kal zel a ni. A dik tak chuan ‘autosomal recessive’ trait anga rochun a ni. Chu chu eng nge a awmzia?

A awlsam zawngin, naupangin SMA a neih theih nan nu leh pa pahnih hian SMN1 gene chhia copy an rochun a ngai a ni. Nu leh pa pakhat chauhvin gene chhia chu a rochun chuan naupang chuan SMA a nei lovang. Mahse, naupang chu natna "carrier" a ni ang. Chumi awmzia chu naupang chuan symptoms a nei lovang a, mahse nakin lawkah chuan gene chhia chu an fate hnenah a la pe chhuak thei dawn tihna a ni.

Engtin nge natna hi dik taka kan hriat theih ang?

Tunlai ram tam tak ang bawkin nau piang tharte hi Sri Lanka-ah hian heng ang chi genetic diseases te hi screening an nei fo thin. Mahse, a chang chuan, a bik takin symptoms na lo tak tak nei te chu a hnuah chauh hmuhchhuah an ni.

I fa chungchangah ngaihtuahna i neih chuan doctor chuan i hmuh hunah hetiang zawhna hi a zawt thei ang:

• I naute chu an lu chawi sang a, an inher ang chi hmasawnna atana thil pawimawh tak takte a paltlang tlai em?
• Naupang tan chuan a thut emaw, a mah chauha ding emaw a harsa em?
• Thâwk harsa i hmu tawh em?
• Engtik lai khan nge heng symptoms te hi i hriat hmasak ber?
• I chhungte zingah hian heng symptoms hi tu emaw chuan an lo nei tawh em?

Heng zawhnate bakah hian a hnuaia test te hi natna hriat chian nan tih theih a ni:

• Genetic testing: Thisen sample lak a, `SMN1` gene chu direct-a test a ni a, a chhiat leh bo loh enfiah a ni. Hei hi natna finfiah nan test ber a ni.
• Creatine Kinase (CK) thisen test: Muscle te a chak loh chuan thisenah enzyme CK an tih chu a lo awm khawm thin. Hei hi a sang a nih chuan taksa ruh (muscle damage) a awm nia rinhlelh theih a ni.
• Nerve Test : Electromyogram (EMG) ang chi test hian nerve te hian taksa peng hrang hrangah signal an thawn dan a enfiah thin.
• MRI emaw CT scan: Taksa chhung lam, a bik takin ruhro leh ruhro te chipchiar taka thlalak la rawh.
• Muscle Biopsy: A chang chuan, taksa peng te tak te lak a, microscope hmanga enfiah a, a chhiatna awm dan finfiah a ni.

SMA enkawlna tur engte nge ni?

Kum sawm atanga kum sawm leh panga kalta khan SMA hian a natna lan chhuah dan control thei tur supportive treatment chauh an nei a. Mahse, tunlai hian medical science hmasawnna avang hian khawvelah hian SMA thlentu genetic problem target-a enkawlna tha tak tak engemaw zat a awm ta a ni.

1. Supportive Care neih a ni

Hengte hian natna hi tidam lo mah se, naupang nunphung tihchangtlun nan a pawimawh hle.

• Thluak lam tanpuina: A bik takin Type 1 leh 2-ah chuan thawkna ruh a chak loh avangin thawkna kawnga pui turin mask bik emaw, a nasat chuan machine (ventilator) emaw hman a ngai mai thei.
• Nutrition leh swallowing: Swallowing muscles te hi a chak lo avangin naute hian nutrition tha tak a neih theih nan nutritionist te puihna a ngai a ni. Nausen thenkhat chu feeding tube hmanga chaw pek an ngai a.
• Movement leh Physiotherapy: Physical therapy exercise hian ruh a venghim thei a, taksa ruh a tichak thei bawk. A ṭûl chuan ke khapna emaw, kea kalna emaw, electric wheelchair emaw i hmang thei a ni.
• Hnung lam harsatna: Naupang scoliosis vei tan chuan doctor chuan hnungzang dik taka awm theih nan corset bik (back brace) bun a rawt thei ang.

2. Gene-Target hmanga enkawlna (Gene-Targeted Therapies) te

Heng damdawi te hian SMA enkawlna kawngah nasa takin hma a la nasa hle a ni.

• Nusinersen (Spinraza): He damdawi hi ruhro tuiah injection angin pek a ni. A hmaa kan sawi tawh "helper" gene, SMN2 chu a tichak a, SMN protein tam zawk siam turin a thawk a ni. Thla engemaw zat danah ei a ngai a ni.
• Onasemnogene abeparvovec-xioi (Zolgensma): Hei hi gene therapy a ni a, vawi khat thisen kal tlanga pek thin a ni. SMN1 gene chhia chu SMN1 gene copy hrisel tak hmangin a thlak a ni. Naupang kum 2 hnuai lam tan pek a ni tlangpui.
• Risdiplam (Evrysdi): Hei hi nitin ei tur tui tak a ni a, `SMN2` gene atanga `SMN` protein siam chhuah tihpunna hmangin hna a thawk bawk.

Heng enkawlnate hi man to hle mah se, naupangte hmasawnna milestone (lu vawn, thut) chu nasa takin a tichangtlung a, natna kal zel dan a titawp tih hmuhchhuah a ni. I fa tan eng enkawlna nge tha ber tih i doctor nen in sawiho tur a ni.