I fa hian heng symptoms te hi a nei em? Stickler Syndrome chungchang hi i zir chiang ang u

I fa tête hian mit lama harsatna, hriatna hloh, a nih loh leh ruh natna a nei fo em? Heng thilte hi hmel inthlak danglamna engemaw zat nen a inzawm mai thei a, tunlaia kan sawi mek dinhmun hi hriat chian a pawimawh hle thei. Hei hi i hming hriat loh deuh ni mah se, nu emaw, pa emaw i nih angin he dinhmun hi i hriat chian hi a hlu hle. A chhan chu i hriat hma poh leh i fa tanpui theihna hun remchang i nei tam zawk a ni.

A awlsam zawngin sawi ila, Stickler Syndrome hi eng nge ni?

Okay, hei hi awlsam takin i hrethiam ang u. Kan taksa hi in mawi taka sak niin han ngaihtuah teh. He building chhungah hian brick, bang leh inchung ang chi thil zawng zawng hian cement mortar a nei a, chu chuan engkim a vawng khawm a, chakna leh pianzia a pe a ni lawm ni? Chutiang bawkin kan taksa peng hrang hrang ruh, vun, mit leh beng te hian tissue network bik an nei a, chu chuan engkim a vawng khawm a, chakna leh inthlak danglamna a pe a ni. Hengte hi connective tissue kan ti a .

Stickler syndrome hi connective tissue siamna tur kaihruaitu genes chhiatna avanga lo awm a ni. Building pakhata cement mortar quality a tlahniam ang bawkin, he connective tissue hi a chak loh chuan kan taksa peng hrang hrang a nghawng thei a, a bik takin mit, beng, ruh leh hmai hmasawnna te Hei hi thlahtute atanga lo piang (hereditary condition) a ni.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Hei hi a takah chuan natna tlanglawn tak a ni lo. Statistics atanga a lan dan chuan he natna hi nau piang thar 7,500 atanga 10,000 zinga pakhat atanga pathum vel ah a awm thin. Mahse, a chang chuan heng symptoms te hi a fiah lo hle. Chuvangin naupang thenkhat symptoms hriat loha awm thin a awm bawk. Chuvangin, vengchhungah damlo report tak tak aiin an tam zawk mai thei.

He natna lan chhuah dan berte chu engte nge ni?

Hei hi a pawimawh ber a ni. Stickler syndrome symptoms hi mi hrang hrangah a inang lo thei hle. Mi thenkhat chuan heng symptoms te hi tlemte chauh an nei thei a, thenkhat erawh chuan tam tak an nei thei bawk. A natna lan chhuah dan nasat dan pawh a inang lo. Hriatthiam awlsam zawk nan heng symptoms te hi category hrang hrangah then ila.

Stickler syndrome hi chi hrang hrang a awm em?

Ni e, he natna hi a thlentu genetic mutation leh a symptoms awm dan azirin chi hrang hrangah then a ni. Tunah hian chi 6 hmuhchhuah a ni tawh. Amaherawhchu, a chi hmasa pathumte hi a tam ber a ni.

• Type I: Hei hi a tam ber a ni. A hriat theih chu myopia leh mild hearing loss a ni.
• Type II: Hei hi hriatna lama harsatna nasa tak bakah mitdelna a awm bawk.
• Type III: Hetiang chi ah hian hriatna hloh leh ruhkawr harsatna a awm fo thin. Thil danglam bik chu hetiang chi hian mit a nghawng lo.
• Type IV, V, leh VI: Heng chi hrang hrangte hi a tlem hle a, mit, beng leh ruhroah nghawng na zawk a thlen thei a ni.

Engvangin nge hetiang hi a lo awm? Hei hi eng nge a chhan?

Ka sawi tawh ang khan hei hi a chhan ber chu genetic defect vang a ni. Collagen hi kan taksa connective tissue-a protein lian ber a ni. He collagen hi taksa "gum" ang a ni. He collagen siam chhuahna tur hi gene chi hrang hrang a awm a. Entirnan, `(COL2A1, COL11A1, COL11A2)` tih te hi a ni.

Stickler syndrome vei chuan heng gene zinga pakhatah hian mutation emaw defect emaw a nei a. Chuvang chuan taksain a mamawh quality collagen a siam chhuak thei lo. Hei hi a hmaa kan sawi tawh ang harsatna zawng zawng siamtu chu a ni.

Engtin nge naupang hian hei hi a neih theih?

Hei hi a bul berah chuan thlah kal zel thil a ni.

• A tam ber: Nu leh pa zinga pakhatin gene mutation a neih chuan naupangin a rochun theihna chance 50% a nei a ni. Hei hi ``autosomal dominant'' pattern kan ti a.
• Rarely: Nu leh pa pahnih hrisel pawh ni se, an pahnih hian mutated gene chu symptoms lantir lovin an keng thei a, naupang chuan a pahnih hian rochun a nei thei a, he natna hi a nei thei bawk (autosomal recessive).
• A tlem hle: A châng chuan he natna hi random genetic mutation angin a lo awm thei a, chhungkaw zingah tumahin an nei lo.

Engtin nge natna hi kan hriat theih ang?

I fa hian heng symptoms te hi a nei nia i rinhlelh chuan Doctor i hmuh hunah test eng emaw zat a kalpui ang a, natna hi finfiah tumin a bei ang.

• Taksa enfiahna kimchang: Doctor chuan naupang hmel lan dan, a hmui chunglam, mit, beng leh ruhkawrte uluk takin a enfiah thin.
• Chhungkaw damdawi lam chanchin: Chhungkaw zingah hian heng symptoms hi nei tawh em tih zawh hi diagnosis atan a pawimawh hle.
• Vision leh hearing screening: Special test hi mit lam doctor leh beng, hnar leh kawr specialist ten an ti thin.
• Imaging test hrang hrang:X-ray ang chi test hmangin ruh ruh (spinal deformities) emaw, ruhkawr-a thil danglam emaw a awm leh awm loh enfiah thin a ni.
• Genetic Testing: Hei hi natna chiang taka finfiah theihna awmchhun a ni. Thisen sample lak theih a ni a, chu chu a thlentu genetic mutation bik hriat theih a ni.

Engtin nge enkawl a nih?

A hmasa berah chuan Stickler syndrome hi natna tihdam theih vek a ni lo. A chhan chu genetic condition a nih vang a ni. Mahse, lungngai suh. He natna avanga natna lan chhuah dan leh harsatna awm thei te thunun nan hian enkawlna tha tak tak a awm a. Damlo pakhat zel natna lan chhuah dan azirin enkawl dan tur ruahman a ni.

• Surgery: Cleft palate siamthat nan te, detached retina reattach leh nan (hei hi tih thuai tur a ni), thawk lama harsatna nei tanpui nan, leh ruh chhia siamthat emaw thlak emaw nan operation a ngai mai thei.
• Glasses leh Corrective Lenses: Mit lama harsatna nei te chuan glasses emaw contact lens emaw hman a ngai a.
• Hearing Aids: Hengte hi hriatna lama harsatna nei tan chuan a \angkai hle.
• Physical Therapy: Exercise hi ruh chhehvel thau tichaktu tur, ruhkawr chetna tichaktu leh natna tihziaawmna atan a tha hle.
• Painkillers: Doctor chuan ruh natna control nan damdawi \ha tak a pe ang.
• Ha leh ha siam \hat dan: Ha awmnaah harsatna a awm chuan enkawl a ngai mai thei.

Hetiang dinhmun nen hian nun pangngaia nun theih a ni em?

Ni e, a dik tak zet. Hei hi damdawi awm lo mah se, he natna hian mi dam rei zawng a nghawng lo. A pawimawh ber chu a natna lan chhuah dan hriat hmasak a, uluk taka enkawl a, doctor nena inbiak reng hi a ni. Chutiang a nih chuan mi tam zawk chuan nun pangngai, thawkrim leh hlim takin an nung thei a ni.

Eng dinhmunah nge doctor i hmuh ang?

Nangmah emaw i fa emaw hian he natna hi i nei a nih chuan a hnuaia symptoms te hi lo thlir reng ang che. Chung zinga pakhat tal a lo lang a nih chuan doctor pan nghal tur a ni.

• I ruh natna nasa tak i neih chuan .
• I mit a fiah nghal vat a, êng a rawn eng chhuak a, floater emaw, i mit hmuhnaah thlalak a lo lang emaw a nih chuan, hengte hi retinal detachment chhinchhiahna a ni thei. Hei hi emergency medical attention mamawh tak a ni.
• Naupangin ei leh in harsatna a neih chuan.
• Surgery neihna hmun atanga thisen, pus ang chi tui lo chhuak emaw, a hring emaw a sen emaw a awm chuan (hengte hi natna kai chhinchhiahna a ni).
• Thâwk harsa i neih chuan , damdawi in hnai ber Emergency Department (ETU)-ah tlai lovin kal nghal rawh.

I chhungkuaa tu emaw hian he natna hi a vei a, fa neih i tum a nih chuan, i doctor nen genetic counseling lak chungchang sawipui a pawimawh hle.