I fa hian hriatna leh mit lama harsatna a nei ve ve em? Usher Syndrome chungchang hi han sawi ila!

I fa tê tê hriatna a tichhe deuh tih i hre ngai em? Naute dang aiin an kal tlai deuh mai thei em? Tichuan, an upat deuh deuh chuan zan lamah êng hniam takah hmuh harsatna an nei tih i hmu em? Chung harsatna pakhat aia tam a awm chuan a chhan chu i ngaihtuah aiin a danglam thei. Vawiin hian heng pathumte hi vawi khata nghawng thei thil awm lo tak kan sawi dawn a ni: hriatna, mit hmuhna, leh a chang chuan inthlauhna, mahse khawtlang nunah chuan sawi tam a ni lo. Hei hi Usher Syndrome an ti a.

Usher Syndrome hi eng nge ni tak tak?

A awlsam zawngin sawi ila, Usher syndrome hi inherited condition a ni. Mi thenkhatah chuan hriatna hloh, mitdelna leh balance lama harsatna a thlen ber a ni. Kan taksa a lo thanlen dan tur blueprint angin han ngaihtuah teh. Hetiang dinhmun hi heng genes-a inthlak danglamna tlemte chauh avanga lo awm a ni a, chu chu mutation an ti a ni. He genetic change avang hian nausen pum chhunga a seilian lai hian hriatna leh hmuhna nena inzawm taksa peng hrang hrangte chu an thang tha lo hle.

Hetiang natna lan chhuah dan hi nau piang (congenital) emaw, naupan lai atanga lo lang tan emaw a ni tlangpui. A tlem hle a, puitlin hunah symptoms a lang thei. Tunah hian he natna hi damdawi a la awm lo. Mahse, lungngai suh. Heng symptoms te hi enkawl dan tur leh fate nun tha tak nei tura tanpui dan tur tam tak a awm a.

Hei hi chi hrang hrang a awm em?

Ni e, a thlentu genetic mutations hriat chhuah 10 vel a awm. Usher syndrome hi chi thum ah then a ni a, heng genes te hi engtin nge an dahkhawm dan a zirin a ni. Heng chi zawng zawng hian hriatna, mit leh balance lama harsatna a thlen thei a ni. Mahse an danglamna ber chu symptoms intan hun leh a nasat dan hi a ni.

Hriatthiam awlsam zawk nan hei hi table- ah i en ang u .

Hei hi Sri Lanka ramah chuan a awm fo lo. Khawvel puma mi 100,000 zinga 3 leh 6 inkar a nghawng a ni.

Hetiang natna lan chhuahna berte chu engte nge ni?

Tunah hian heng symptoms te hi chipchiar deuhin han sawi ila.

• Bengchheng: Naupang thenkhat chu bengchheng lo piang emaw, hriatna chak lo tak emaw an ni thei. Mi dangte tân chuan an upat deuh deuh chuan an hriatna chu a tlahniam zauh zauh ṭan a.

• Mitdelna: Hei hi Retinitis Pigmentosa (RP) tih natna avanga lo awm a ni. A awlsam zawngin kan mit retina-a light-sensitive cells (rods leh cones) te zawi zawiin tihchhiat a ni.
• A lan chhuah hmasak ber chu: zan lama mitdel. Zanah, êng êng lo hmunah thil chiang taka hmuh theih lohna.
• A dawt leh tur chu: Hmuh theihna field tihtlem (tunnel vision). Tunnel chhunga thlir ang mai a ni a, straight-ahead vision chauh a awm a, peripheral vision pawh a awm lo. Hun a kal zel a, he natna hi a nasat phah thei a, mitdelna famkim a thlen thei bawk.

• Balance chungchang: Hei hian Type 1 vei naupangte a nghawng zual hle a, kan beng chhungril lama kan balance control na tur hmun thenkhat chu a chhe vek a ni. Hetiang dinhmun hian heng part te hi a ti chhe thei a ni. Hei vang hian heng naupangte hian kea kal zir nan hun rei tak an hmang thin. An tlu reng ang maiin an inhria mai thei.

Engvangin nge hetiang hi a lo awm? Eng nge a chhan?

Kan sawi tawh ang khan hei hi genetic condition a ni vek a. Hetiang inheritance pattern hi autosomal recessive pattern an ti a . Chumi awmzia chu naupangin he natna hi a neih theih nan chuan naupang chuan nu leh pa aṭangin gene ṭha lo chu a rochun a ngai tihna a ni .

Ngaihtuah teh, naupang chuan a nu chauh a\angin gene \ha lo chu a rochun a, a pa hnen a\angin gene hrisel chu a rochun chuan naupang chuan natna chu a nei lovang. Mahse naupang chu gene chhia chu phurtu a ni ang. Symptoms nei lo mah se, a fate hnenah gene chu a pe chhuak thei a ni.

Engtin nge he natna hi ka neih leh neih loh ka hriat theih ang?

Naupang natna lan chhuah dan leh chi hrang hrang a zirin diagnostic method hi a inang lo.

Ngaihtuah teh, i naute chu a pian hnu lawka damdawi ina tih thin, nausen hriatna lama harsatna nei nia hriat a nih chuan, doctor-te chuan chu thil chu chhui chiang turin test dang an nei leh ang. Tichuan, Usher syndrome an rinhlelh chuan genetic test neih an rawt mai thei .

I fain a upat deuh deuh chuan hriatna emaw, mit lama harsatna emaw a lantir chuan i chhungkaw doctor (naupang enkawltu) chuan specialist hnenah a refer ang che.

• Hearing tests: Otolaryngologist leh audiologist te chuan test hrang hrang an ti a, naupang hriatna level an hriat theih nan.
• Vision test: Mit lam doctor chuan naupang mit a enfiah ang a, a bik takin retina a chhiat leh chhiat loh enfiah nan, retinitis pigmentosa ang chi te a enfiah ang. Peripheral vision tehna atan test an nei dawn bawk a ni.

Hei hi eng enkawlna nge ni?

He natna hi tihdam kim theih ni lo mah se, a natna lan chhuah dan tur enkawl nan thil tam tak i tih theih a awm. Doctor-te chuan naupang dinhmun, kum leh natna lanchhuahna nasat dan a zirin enkawlna an ruahman a ni.

• Cochlear implants: Naupang nau piang, hriatna lama harsatna nasa tak nei te chu he hmanrua hmang hian thawm hriat theih nan tanpui theih a ni a, chu chu surgery hmanga beng chhungrilah dah a ni.
• Hearing aids: Hengte hi naupang hriatna lama harsatna nei tlem tan chuan a tangkai hle.
• Vision aids: Glasses, light filter thei lens bik nei te, magnifying devices te pawh hman theih a ni.
• Early intervention services: Hei hi a pawimawh hle. Kum naupang têa speech therapy, physiotherapy, leh sign language training ṭan hian naupang ṭhanlenna kawngah nasa takin a ṭanpui thei a ni.

I doctor zawh tur zawhna pawimawh

Chutiang dinhmun hlauhawm tak i hriat chuan zawhna tam tak neih chu thil pangngai tak a ni. Heng zawng zawng hi i doctor nen sawiho chu hlau lo la, hreh suh. Zawhna i zawh theih ṭhenkhat chu hetiang hi a ni:

• "Ka fa hian Usher syndrome chi engzat nge a neih?"
• "Eng treatment nge i rawt?"
• "Ka fa hian hun kal zelah a mit a hloh vek mai thei em?"
• "Kei emaw ka kawppui emaw hian hetiang thil thlentu genetic mutations hi kan nei em tih test ka ni thei ang em?"

Kan mit, kan hriatna leh kan balance hi khawvel nena kan inpawh tawnna atana kan hman thin sense lian pathum a ni. Chuvangin nu leh pa i nih angin i fain heng thilte hi a hloh tih i hriat hian lungkhamna, lungngaihna leh hlauhna i neih hi thil awmdan pangngai a ni. Mahse, nangmah chauh i ni lo tih hre reng ang che. I fate tanpui thei tur damdawi lam enkawlna, puihna service leh programme tam tak a awm a. I doctor leh i medical team te chuan i rilru put hmang an hrethiam ang a, i mamawh kaihhruaina an pe ang che.