I ruh (joint) te hi a lo chhuak fo em? I vun hi a chhe awlsam em? Ehlers-Danlos Syndrome a ni thei ang em?

I kut leh ke ruhte chu a che awlsam lutuk, a hlim lo ang maiin i hria em? A nih loh leh khawih tlemte pawhin awlsam takin i hliam emaw, i blue emaw? "Aw, ka clumsy deuh a ni ngei ang," i ti mai thei. Mahse, chutiang chauh chu a ni lo. Ehlers-Danlos Syndrome (EDS) tih natna avang pawh a ni thei a, chu chu a awm lo hle a, mahse hriat a pawimawh hle. Hemi chungchang hi vawiinah hian chipchiar zawkin han sawi ila.

Ehlers-Danlos Syndrome (EDS) hi eng nge ni?

A awlsam zawngin sawi ila, Ehlers-Danlos syndrome hi kan taksa chhunga connective tissue te tichhe thei natna a ni. Tunah chuan connective tissue hi eng nge ni tih i ngaihtuah mai thei. Kan taksa hi in ang mai a ni tih han ngaihtuah teh, connective tissue te chu cement leh mortar ang maiin thil a vawn tlat a, chakna petu, bang leh inchung ang mai a ni. Kan taksa hmun tinah an awm – kan taksa peng hrang hrangte chu an vawng tlat a, kan taksa peng hrang hrangte pawh an inzawm khawm thei bawk.

He connective tissue hi protein chi hnih lian tak atanga siam a ni a, chungte chu collagen leh elastin te an ni . EDS ah chuan kan taksa hian he protein collagen an tih hi a siam tha thei lo. Thil thleng chu EDS vei hian collagen chak lo a nei a ni. Chumi awmzia chu an connective tissue chu a nih tur angin a chak lo va, a tight tawk lo tihna a ni.

Hetiang dinhmun hian i taksaa connective tissue eng pawh a nghawng thei a ni. Entir nan:

• I cartilage tan chuan
• Ruh thlengin
• Thisenah chuan
• Fatty tissue ah chuan

EDS hian i connective tissue a nghawngna hmun a zirin, hetiang hian symptoms i nei thei a:

• I vunah chungah
• A ruh (joints) ah chuan
• Muscle-ah chuan
• Thisen kalna kawngah

A pawimawh ber chu Ehlers-Danlos syndrome hi genetic disorder a ni . Chumi awmzia chu thlah kal zelah a kal zel theih tihna a ni. I chhungkuaa mi tu emaw – chu chu i hnaih bertu, i nu, i pa, i unau, i pi leh pu te ang chi te hian hetiang natna hi an nei a nih chuan doctor pan a, i check out a pawimawh hle.

Ehlers-Danlos syndrome chi hrang hrang a awm em?

Ni e, doctor-te chuan Ehlers-Danlos syndrome hi chi hrang hrang 13 velin an then a, chu chu he natna hian taksa a nghawng dan leh eng symptom nge a thlen dan azirin a ni.

A tlangpuiin a tlangpuiin ruhkawr leh vun hring emaw, a nghet lo emaw a thlen tlangpui a, vun chu a nalh hle a, a hliam awlsam bawk. Mahse, nunna atana hlauhawm harsatna thlen thei chi tlemte a awm. A bik takin , vascular Ehlers-Danlos syndrome — thisen kalna kawng tichhe thei EDS chi — chu a hlauhawm deuh thei.

I doctor chuan eng EDS chi nge i neih tih leh eng enkawlna nge i mamawh tih a hrilhfiah ang che.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Mithiamte sawi dan chuan a vaiin mi 5,000 zinga pakhat velin Ehlers-Danlos syndrome an nei thei a ni. Chumi awmzia chu Sri Lanka ramah hian hetiang natna vei an awm a, mahse an hre lo mai thei.

Ehlers-Danlos syndrome natna lan chhuah dan chu engte nge ni?

EDS chi hrang hrang hian a lan chhuahna danglam bik nei mah se, a lan chhuah dan tlangpui tlemte chu hmuh tur a awm. Eng nge an nih hi han thlir ila:

• Hypermobile joints: Hei hi mi tam takah chuan a lan chhuah dan tlangpui a ni. I ruhte chu a hlim lo va, a nghet lo niin i hria thei. Mi thenkhat chuan midang aiin an kut zungtang, kekawrte leh khup te chu a danglam bik zawkin an ben thei a, an tikehsawm thei bawk. Ngaihtuah teh, circus-a an tih ang bawkin miten an taksa an ben tih i hmu tawh ngei ang, mi thenkhat chuan EDS vangin chutiang theihna chu an nei ve mai thei bawk. Mahse hei hi thil tha tak a ni ngai lo, a chhan chu joint te hi awlsam takin a snap thei a ni.
• A vun hi a nêm hle a, a hring a, a tlangpui aia a inzawm khawm zawk bawk: Vun hi rubber band ang maiin a inzawm thei. Mi thenkhat vun hi khawih chuan a nem hlein a hria a, velvet ang maiin. Tin, a chang chuan vun hi a hring thei hle bawk.
• Bruising awlsam, blue turn fo: Bump emaw bump te tak te hnuah pawh bruise lian leh bruise i neih chuan chu pawh chu hei hi a ni. Mi thenkhat chuan hetiang thil a thlen chhan pawh an hre thei lo mai thei.
• Hliam hi a dam theih nan hun danglam tak a ngai a, hliam te pawh a pianzia mak tak takah a lo lang thin: Hliam te tak te pawh hi a dam theih nan hun rei tak a ngai thin. A châng chuan a hliamte chu a hring hlein a lang a, cigarette paper-a hliam ang maiin a lang.
• Joint leh muscle pain: Hei hi mi tam takin harsatna an neih ve bawk a ni. An na reng a, an chau reng bawk.
• Chauhna: Eng ang pawhin mut pawh ni ila, chau lutuk anga inhriatna .
• Thil ngaihtuah harsa: Hnathawh tur ngaihtuah harsa, thluak chu a vur ang maiin.

Heng symptoms pakhat emaw a aia tam emaw i neih chuan doctor thurawn lak a tha ber.

Eng thilin nge Ehlers-Danlos syndrome hi a thlen?

Hei hi a chhan ber chu genetic mutation vang a ni . A awlsam zawngin kan cell te an inthen a, cell thar an lo pian hian kan ``DNA''-a information awm chu a copy a ni. He copy lai hian ``DNA'' sequence-ah hian inthlak danglamna, chhiatna emaw, chhiatna emaw tlem a awm chuan chu chu genetic mutation an ti a ni. Recipe-a letter te tak te chu sawn a nih ang bawkin ei tur thlum leh a lan dan a danglam thin.

EDS-ah chuan he genetic mutation hian taksain protein collagen an tih chu a siam chhuak thei lo. Collagen hi kan vun, kan ruh leh kan thisen kalna kawngte chakna petu ber a ni. A siam chhuah dik loh chuan a chunga kan sawi tak harsatna zawng zawng hi a thleng vek a ni.

Mithiamte chuan EDS thlen thei gene mutation hrang hrang 20 chuang an hmuchhuak tawh a ni. Gene mutation bik i neih hian i taksa peng engte nge a nghawng tih a hril a ni. Mahse, a chang chuan doctor-te chuan eng gene mutation nge mi pakhat EDS thlentu tih chiang takin an hre thei lo.

Tute nge hetiang hi vei theihna hlauhawm zawk?

EDS chi thenkhat chu rochun a ni . Chumi awmzia chu nu leh pate hian he natna hi an neih chuan an fate hnenah genetic mutation chu an kai thei tihna a ni. Mahse, chi thenkhat chu somatic an ni – chu chu chhungkaw zinga mi dangin an neih loh avangin mi pakhatin a tipung thei tihna a ni a, thlah khat atanga thlah dangah an inthlunzawm lo tihna a ni.

I nu leh pa dik tak zinga pakhat emaw, pahnih emaw hian EDS an vei a nih chuan, chu natna chu i vei thei a ni. Tin, EDS i neih chuan i fate chuan a thlentu gene mutation chu an pass thei bawk.

Hemi chungchang hriat belh duh chuan genetic counseling i zawng thei ang . Genetic counselor-te chuan heng natnate hi nangmah atanga rochun theihna tur, emaw, i fate hnena pek chhuah theihna tur hlauhawmzia an sawifiah thei a ni.

Ehlers-Danlos syndrome hian eng harsatna nge a thlen?

EDS vei te hian harsatna an neih tam ber chu dislocations , chu chu ruh ruhte chu an dinhmun pangngai atanga a tlak chhuah vang a ni.

Pawimawh: I ruh i tihchhiat nia i ngaih chuan nangmah chauhin a hmunah dah leh tum suh. Chutianga tih chuan chhiatna a thlen belh thei a ni. Emergency room (ETU) ah kal nghal rawh. A châng chuan, ruh (joint) hrual (dislocated joint) siam ṭhat nân operation neih a ngai thei bawk.

EDS chi thenkhat, a bik takin a hmaa kan sawi tawh angin vascular Ehlers-Danlos syndrome hian nunna atana hlauhawm harsatna a thlen thei a ni. Hetiang chi hian thisen kalna kawng a tikehsawm thei a ni. Hei hian taksa chhungah thisen a chhuah thei a, stroke ang chi dinhmun hlauhawm tak a thlen thei a ni.

Heng EDS chi hrang hrang vei te hi taksa peng hrang hrang (organ rupture) an awm theihna a sang hle. Hmeichhe naupai chhungril leh nausen pum (uterus) hi taksa peng hrang hrang a chhe thei ber a ni.

I tawrh theih tur harsatna chu EDS i neih chi hrang hrangah a innghat a ni. Harsatna dangte chu:

• Heart valve problem (thisen pump tu valve te hian hna an thawk tha lo).
• Spine curvature na tak (scoliosis) a awm.
• Mit mitmeng (cornea) a thim (thinning) thin.
• Bowed limbs te chu.
• Ha leh ha leh hmuam lama harsatna a awm.

Engtin nge Ehlers-Danlos syndrome hi an hriat theih?

Doctor chuan Ehlers-Danlos syndrome i neih leh neih loh chu taksa enfiahna leh i medical history lakna hmangin a hre thei ang. I vun leh ruhte an en ang a, i symptoms te an zawt ang che. I doctor hnenah i symptoms i neih tan tirh leh thil engemaw i tih hian i symptoms a na zual em tih te hrilh rawh.

EDS vei tam takin genetic mutation hriatchhuah an hmuh theih loh avangin doctor-te chuan a natna lan chhuah dan leh an damdawi lam chanchin a zirin an diagnosis an siam tlangpui.

Ehlers-Danlos syndrome hi engtin nge enkawl a nih?

I doctor chuan Ehlers-Danlos syndrome enkawlna tur a rawt ang che, chu chuan i natna lan chhuah dan control nan leh harsatna hlauhawm tak tak i neih loh nan a pui ang che. I tana tha tur enkawlna chu EDS i neih chi leh i connective tissue a nghawng danah a innghat ang.

Damdawi hman tlanglawn thenkhat chu:

• I vun venhimna: Ni chhuahna hmuna i chhuah dawnin sunscreen hmang la, vun tichhe lo sahbawn nalh tak tak hmang bawk ang che. A vun hi a nalh em avangin enkawl a ngai a ni.
• Physical therapy: Ruh chhehvel thau tichak tura exercise tih a ni. Hei hian joint te chu extra support a pe a, joint stiffness a tihziaawm thei bawk.
• Brace vuah: Doctor-te chuan ruhkawrte chu extra support pe tur leh a nghet taka awm theih nan brace bik vuah turin an rawt mai thei.

Ehlers-Danlos vei te hian osteoarthritis leh ruh natna dang an vei theihna a sang zawk avangin i doctor chuan thil thenkhat chu pumpelh turin a hrilh thei che a ni. Entir nan:

• Thil rit phur (strenuous lifting).
• Exercise nasa tak nei – e.g. tlan, zuang chhuak.
• Contact infiamna – e.g. rugby, football khelh a ni.

Ehlers-Danlos syndrome hi ven theih a ni em?

Vanduaithlak takin, ni lo, Ehlers-Danlos syndrome hi ven theih a ni lo . A thlentu genetic mutations kan control theih loh avangin EDS ven dan tur a awm lo. I fate hnenah EDS (a nih loh leh genetic condition dang) i pass thei tih i ngaihtuah chuan, i doctor nen genetic counseling chungchang sawipui rawh .

EDS ka neih chuan eng nge ka beisei ang?

Ehlers-Danlos syndrome i neih chuan i dam chhung zawng i symptoms i enkawl a ngai dawn a ni. Damdawi a la awm lo . Mahse, i natna lan chhuah dan enkawl dan i zir hnuah chuan i thiltih pangngaiah i kir leh thei tawh tur a ni. Taksa tihchakna nasa tak (contact sports ang chi) i pumpelh a ngai mai thei.

Ehlers-Danlos syndrome hian mi zawng zawng a nghawng dan inang vek lo. I tawn tur chu EDS i neih chi leh i natna lan chhuah nasat danah a innghat ang. I dinhmun a zirin i doctor hnenah eng nge i beisei tur tih zawt rawh.

Ehlers-Danlos syndrome vei dam rei zawng chu engzat nge ni ang?

EDS chi tam zawk hian i dam chhung a nghawng lo va, i dam chhung a ti tawi lo tihna a ni.

Mahse, thisen kalna kawng tichhe thei EDS chi khat (vascular Ehlers-Danlos syndrome ang chi) i neih chuan stroke emaw, thisen kalna kawng dang thihna thlen thei thil dang emaw i nei thei a ni.

Vascular Ehlers-Danlos syndrome i nei a nih pawhin, i doctor chuan nun him leh hrisel tak i neih theih nan enkawlna leh nunphung thlak danglamna zawng turin a pui thei che a ni. Eng harsatna hlauhawm tak takte chhinchhiahna nge i fimkhur tur tih chu i doctor nen sawiho rawh.

Engtin nge ka in enkawl ang?

I symptoms te chu en reng la, a danglamna i hmuh chuan doctor pan rawh. I doctor chuan i taksaah inthlak danglamna a awm leh awm loh enfiah turin clinic-ah eng chen nge i lo kal tur tih a hrilh ang che. A tul chuan i enkawlnaah an inthlak danglam ang.

High-impact sport te chu pumpelh rawh. Taksa tihchakna hahthlak tak tak, taksa inhnaih tawnna infiamna ang chi hian i ruh (a bik takin ruh zuang) hliam theihna a tipung a ni.

Engtikah nge ka doctor ka hmuh ang?

I vun emaw, i ruh emaw a chak lo, a hlim a, i taksaah danglamna a awm a nih chuan doctor pan rawh. A hma aia i hliam tam zawk emaw, thisen chhuak ang maia i hriat chuan doctor pan rawh.

Engtikah nge Emergency Department (ETU) ah ka kal ang ?

Nangmah emaw, i bula awm tu emaw chuan stroke symptoms a neih chuan emergency room-ah kal nghal la, 1990 call rawh.

Stroke vaukhânna chhinchhiahnate hriat la, THIL THAWN THIN tih hre reng ang che :

• B - Balance: Balance hloh nghal mai tur chuan fimkhur rawh.
• E - Mit: Mit pakhat emaw, mit pahnih emaw a mit a hloh nghal em tih enfiah thin ang che, a nih loh leh mit pahnih a hmu thei em tih enfiah thin ang che.
• F - Hmel: Mi chu nuihzat turin hrilh rawh. Hmai sir khat emaw, a sir lehlamah emaw zawng la, droop rawh. Hei hi taksa ruh chak lohna emaw, hnathawh that lohna emaw chhinchhiahna a ni.
• A - Kut: Kut pahnih chawi sang turin hrilh rawh. A sir khatah chak lohna a awm chuan (a hmaa a awm lo a nih chuan) kut pakhat chu chawi sangin a dang chu a tla thla ang.
• S - Thusawi: Miin stroke a neih hian thusawi thiamna a hloh fo thin. An bengchheng thei a, an thusawi chu an sawisel thei a, a nih loh leh thu dik thlan an harsat phah thei bawk.
• T - Hun: Hun hi a pawimawh ber a, chuvangin tanpuina dawn hi tihkhawtlai suh! A theih chuan darkar en la, i natna lan chhuah tirh hun kha hre reng ang che. I natna lan chhuah tirh atanga doctor hnena hrilh hian i tan eng damdawi nge tha ber tih an rel thei a ni.

Doctor hnenah eng zawhna nge ka zawh ang?

Doctor i hmuh hunah hetiang zawhna hi i zawt thei ang:

• Ehlers-Danlos syndrome emaw thil dang emaw ka nei em?
• Eng ang EDS nge ka neih?
• Eng ang enkawlna nge ka mamawh?
• Eng symptom emaw, inthlak danglamna emaw nge ka fimkhur tur?
• Follow-up visit atan engzat nge ka lo kal a ngai ang?
• Fa neih ka duh chuan genetic counselling hi ka ngaihtuah tur em ni?

Ehlers-Danlos syndrome (EDS) hi genetic condition a ni a, i connective tissue thlawptu protein collagen siam chhuah theihna a nghawng a ni. Hei hian i vun, ruh leh tissue dangte chu a pangngai aia chak lo leh flexible zawkin a siam thei a ni. I doctor chuan i natna lan chhuah dan tur enkawl dan tur leh harsatna lo thleng tur venna tur damdawi zawng turin a pui thei che a ni.

Zawhna zawh hreh suh la, doctor nen inbia ang che. EDS symptoms hi a fiah lo hle thei a, a bik takin a tir lamah chuan. Nangmah ring la, i taksa thu hi ngaithla rawh. I natna lan chhuah dan a danglam ang tih i hriat chuan, emaw, i enkawlnain a thawk tha lo nia i hriat chuan i doctor nen inbia ang che.

Thupui tawi leh Take-Home Message

Okay, chuti a nih chuan tunah chuan vawiin a kan sawi tawh, Ehlers-Danlos Syndrome (EDS) hi i hrethiam tawh zawk a ni. Hei hi kan connective tissue tichaktu, a bik takin protein collagen tih chakna siamtu genetic condition a ni tih hre reng ang che.

• Key features: Hyperflexible, ruh tliak awlsam, vun nalh, hliam awlsam, stretchy, hliam na tak, ruh/muscle na te hi a tam ber.
• A chhan: Genetic mutation a ni.
• Enkawl dan: Symptom management hi a pawimawh ber a ni. Physical therapy, vun venhimna, a tul chuan support bun te hi a pawimawh hle. High-impact activities tih loh hi a finthlak bawk.
• A pawimawh ber: Heng symptoms te hi i neih chuan, emaw, i chhungkuaa mi tu emaw hian hetiang natna hi a nei a nih chuan doctor pan a, thurawn lak a pawimawh hle. Nangmah chauhin thutlukna siam turin zuang lut suh.

Hetiang dinhmun nena nun hi thil harsa tak a ni thei a, mahse enkawl dan dik leh damdawi lam thurawn pek a nih chuan mi tam tak chu nun pangngai, active takin an nung thei a ni. Nangmah chauh i ni lo, tanpuina dawng rawh.

` Ehlers-Danlos Syndrome, connective tissue, collagen, ruh natna, vun tikhauh, genetic natna, EDS, hypermobility