Spinal Muscular Atrophy (SMA) hi eng nge ni? He dinhmun rare tak hi thumal awlsam takin han sawi ila

I fa te chu tlem a lethargic, emaw naupang dang aiin a active lo zawk angin i inhriat ngai em? I fa hian an kawr chu uluk taka chelh a harsat a, a nih loh leh an taksa chu a hlim ang maiin a hria em? Nu leh pa emaw, nu leh pa emaw hian hetiang thil an hmuh hian hlauhna an nei hi thil pangngai tak a ni. Vawiin hian heng symptoms te hi a thlen thei, mahse khawtlang nunah sawi tam vak loh, rare condition kan sawi dawn a ni. Chu chu Spinal Muscular Atrophy, a tawi zawngin SMA a ni. He hming i hriat hian hlau suh. He thuziak ah hian he natna chungchang hi awlsam takin, i hriatthiam theih angin kan sawi dawn a ni.

SMA hi eng nge ni tak tak?

A awlsam zawngin sawi ila, Spinal Muscular Atrophy (SMA) hi genetic (inherited) condition a ni. Nervous system nena inzawm natna a ni. He natna avang hian kan taksa ruh thenkhat chu zawi zawiin a chak lo va, atrophy a ni. Hmanraw hman loh chu a rust zauh zauh ang bawkin.

Hei hi tlem han sawifiah leh ila. Kan thluak leh kan ruhro hian kan taksa peng hrang hrangte chu che turin thuchah a thawn a. Heng thuchahte hi electrical wire ang maia thawk nerve cell chi khat bikin a phur a ni. Hengte hi lower motor neurons kan ti a . SMA-a thil thleng chu heng motor neurons te hi zawi zawiin an chhe vek a ni. Tichuan thluak atanga taksa peng hrang hranga "che" tih thuchah chu a dawng tha lo hle. Thuchah a dawn loh chuan taksa ruhte chu a thawk thei lo va, zawi zawiin a chak lo ta a ni.

He natnaah hian taksa lairil hnaih ber (proximal muscles) te chu a chak lo hle. Entirnan, kekawrte, hip, leh kekawrte ang chi hmun te. Taksa lairil atanga hla zawk (distal muscles), kut zungtang te hi a nghawng tlem hle. He chak lohna hi hun kal zelah a pung zel a.

SMA chi hrang hrangte chu engte nge ni?

SMA hi a inang vek lo. Doctor-te chuan a natna lan chhuahna kum, natna nasat dan leh dam rei zawng a zirin chi pangaah an ṭhen a. He classification hi hriatthiamna hian natna hi a hrethiam zawk thei a ni.

Engvangin nge he SMA natna hi a lo awm? Eng nge a chhan?

Kan sawi tawh ang khan hei hi genetic disease a ni. Chu chu kan genes-a chhiatna avanga lo awm a ni tihna a ni.

Kan taksaah hian gene pakhat SMN1 (Survivor Motor Neuron 1) tih a awm a. He gene hnathawh ber chu kan sawi tawh ang khan motor neurons dam khawchhuahna atana pawimawh protein (SMN protein) siam chhuah hi a ni. SMA vei chuan he SMN1 gene-ah hian mutation emaw defect emaw a nei a. Chuvangin taksain SMN protein a siam tling lo. He protein tel lo chuan motor neurons te hi an dam thei lo. Zawi zawiin an tlem a, an thi ta a ni.

Chuti a nih chuan SMN2 gene chu eng nge ni?

Vanneihthlak takin kan taksa hian SMN1 gene ang chi gene dang a nei leh a. Chu chu SMN2 gene a ni. Hei hi SMN1 gene ‘backup’ ang a ni. Mahse, he SMN2 gene hian SMN protein tlemte chauh a siam chhuak a ni.

He natna nasat dan hi SMN2 gene copy zat atanga teh a ni. Miin SMN2 gene copy a neih tam poh leh taksain SMN protein a siam tam zawk thin. Chuvangin SMN1 gene hi a thawk lo a nih pawhin a tlakchhamna chu eng emaw chen chu a rul thei a ni. Chuvangin SMN2 copy tam zawk nei te symptoms chu a na zawk.

Engtin nge he natna hi naupangin a rochun?

Hei hi autosomal recessive pattern-a inherit a ni. Chumi awmzia chu naupangin he natna hi a vei theih nan nu leh pa pahnih hian SMN1 gene chhia chu an rochun a ngai tihna a ni.

Vawi tam tak chu nu leh pa pahnih hi "carrier" an ni - gene chhia copy khat kengtu an ni. Mahse SMN1 gene tha pakhat an neih avangin symptom an nei lo. Chutiang carrier nu leh pa pahnih chuan fa an neih chuan, .

• Naupangin natna a vei theihna chance 25% a awm.
• Naupang pawh hi carrier a nih theihna chance 50% a awm.
• Naute hian 25% chance a nei a, a hrisel lohna tur a awm lo.

Engtin nge SMA hi hmuhchhuah a nih?

I fain SMA a vei nia rinhlelh a nih chuan doctor chuan i fa natna lan chhuah dan leh chhungkaw medical history a zawt hmasa ang che. Tichuan taksa leh thluak enfiahna an nei ang.

SMA awm leh awm loh finfiah nan test ber chu genetic testing a ni. Hei hi thisen test awlsam tak a ni. SMA hi 95% vel dik takin a hmuchhuak thei a ni. Ram changkang zawkah chuan tunah chuan nau piang thar zawng zawng hi he natna hi an test vek tawh a ni.

A chang chuan SMA natna lan chhuah dan hi neuromuscular natna dang, muscular dystrophy ang chi te nen a inang thei bawk. Chuvangin i doctor-in SMA a rinhlelh nghal loh chuan a chhan zawng turin test dang a ti thei a, chu chu:

• Creatine Kinase (CK) blood test: He enzyme hi thisenah hian taksa ruh a chhiat chuan a chhuak thin. Mahse, SMA-ah hian CK level a sang lo tlangpui.
• Electromyogram (EMG) leh Nerve Conduction zirchianna:Heng test te hian taksa peng leh nerve te electrical activity an teh thin.
• Muscle Biopsy: Hei hi tih fo a ni tawh lo. Hetah hian taksa ruh te tak te pakhat lak a ni a, enfiah a ni.

Hei hi naupai lai hian hmuhchhuah theih a ni em?

Awle. I chhungkuaa mi tu emaw chuan SMA a vei a nih chuan i nausen piang lai chu naupai laiin he natna hi i test thei ang. Test chi hnih a awm a, chungte chu:

1. Amniocentesis: Hetiang tih danah hian nausen pum chhunga naute hual vel amniotic fluid tlemte chu syringe hmangin lakchhuah a ni a, genetic testing neihpui a ni.

2. Chorionic Villus Sampling (CVS): Hetah hian nausen atanga tissue te tak te la chhuakin an enfiah thin.

SMA enkawlna tur engte nge ni?

Vanduaithlak takin SMA damdawi a la awm lo. Mahse, lungngai suh. Symptoms control nan te, complication inven nan te, i fa nun awlsam zawk nan te thil tam tak i tih theih a ni. Tin, tun hnaiah damdawi tha tak tak hmuhchhuah a ni a, natna kalphung tidanglam thei a awm bawk.

Enkawlna hi chi hnih ah then theih a ni:

1. Symptom management leh supportive care

Hengte hi natna avanga lungawi lohna tihziaawmna tur leh naupang chu nun tha ber a nunpui theihna tura duan a ni.

• Physical therapy: Posture dik tak vawng reng turin a pui a, ruh nghet lo tur a veng a, taksa ruh chak lohna a tikhawlo bawk.
• Occupational therapy: Naupang chu nitin hna hrang hrang mahni inrintawkna neia thawk turin a pui thin.
• Ṭanpuitu hmanrua: I hman a ngai mai thei a, chu chu brace, crutches, walker, leh wheelchair te hi a ni.
• Speech and swallowing therapy: Thusawi leh ei harsatnaah a pui thin.
• Feeding tube: Chaw ei harsa lutuk emaw, hlauhawm lutuk emaw a nih chuan hnar emaw, pum emaw kaltlangin pum chhungah direct-in tube dah theih a ni.
• Assisted ventilation: Thâwk lama harsatna a awm chuan khawl bik (ventilator) hman a ngai a ni.

2. Natna kal dan tidanglam thei damdawi

Kum 2016 atang khan damdawi eng emaw zat siam chhuah a ni a, chu chuan SMA enkawlna kawngah nasa takin hma a sawn a ni. Hengte hian natna kalphung nasa takin a tidanglam thei a ni.

• Disease-Modifying Therapy: Heng damdawi te hian a hmaa kan sawi tawh ‘backup’ gene, SMN2 gene chu a tichak a, SMN protein tam zawk a siam chhuak thei a ni. Nusinersen (Spinraza®) leh Risdiplam (Evrysdi®) te hi he damdawi chi hi a ni.
• Gene Replacement Therapy: Hei hi enkawl dan hmasawn tak a ni.Drug onasemnogene abeparvovec-xioi (Zolgensma®) hian SMN1 gene bo emaw, chhia emaw chu SMN1 gene hnathawk thei nen a thlak a ni. Hei hi vawi khat enkawlna a ni a, thisen kal tlanga pek thin a ni (IV).

SMA natna kal zel dan leh harsatna awm thei te

Hun a kal zel a, taksa ruh chak lohna hian harsatna hrang hrang a thlen thei a ni.

• Scoliosis , hip hring, a ke ruh tliak.
• Chaw ei harsat vanga ei leh in lama harsatna leh tui tlakchhamna.
• Thlawhna kawng chhunga ei tur lut avanga rilru natna , aspiration pneumonia ang chi te.
• Lung chak lo leh thawk harsa.

SMA vei naupang dam rei zawng hi natna chi hrang hrang a zirin a inang lo hle. Type 3 leh 4-ah chuan dam rei zawng hi a nghawng nasa lo tlangpui. Type 1 ang chi natna khirh zawkah chuan harsatna a nasa zawk. Mahse, enkawlna thar hman a nih tak avangin tunah chuan a bik takin type 1 naupangte dam rei zawng leh nunphung quality chu nasa takin a pung ta a ni. Chuvangin, i fate dinhmun hriat chian ber tur chu i Doctor hi a ni.