I naute hian a ruh leh ruhkawr lamah harsatna a nei em? - Spondyloepiphyseal Dysplasia Congenita (SEDC) chungchang hi i zir dawn a ni.

Doctor chuan i fate chu a pian tirh khan an ruh leh ruhteah inthlak danglamna tenau engemaw zat a nei tih a hrilh che em? A nih loh leh, i fa chu naupang dangte aiin a tawi zawk tih i hmu em, a nih loh leh an kal danah thil danglam tak a awm tih i hmu em? Mit lama harsatna pawh a ni mai thei. Heng thu i hriat hian hlauthawng tih hi thil pangngai tak a ni. Mahse, lungngai suh. Vawiin hian heng symptoms thlen thei genetic condition hmuh tur awm lo tak tak kan sawi dawn a, chu chu Spondyloepiphyseal Dysplasia Congenita, a tawi zawngin SEDC an ti a ni.

He SEDC hi eng ang dinhmun nge a nih tak tak?

A awlsam zawngin sawi ila, SEDC hi genetic disease a awm lo hle a ni . I naute ruh te, ruhkawr te, a chang chuan mit lam thlengin a nghawng a ni. A pawimawh ber chu heng effects te hi nausen pum atang hian a intan a , a natna lan chhuah dan chu pian tirh atangin a lang chhuak thin . Chuvangin "congenita" an ti a, chu chu "pian atanga" tihna a ni.

SEDC vei naupangte hian a tlangpuiin a hnuaia mite hi an lantir thin:

• Spine, hip joint leh khup joint-a misaligned joint te.
• Skeletal dysplasia hi naupang hmasawnna zawng zawng tichhe thei a ni.
• Shorter than average height , a bik takin trunk, neck, leh limbs-ah te.
• Mit leh hriatna lama harsatna nei .

He dinhmun hi hming dang engemaw zatin an ko a, entirnan:

• SED pianphung (SED pianphung) .
• SED, pianpui chi a ni
• SEDc
• Spondyloepiphyseal dysplasia, pianpui chi khat a ni

Hei hi a tam em em a , nau piang nung 100,000 zinga pakhat vel chauh a nghawng a ni . Chu chu a tlem hle. Tunah hian khawvel pumah hri kai hi 175 chauh an awm mek a ni.

SEDC leh SEDT hi eng nge an danglamna?

SEDC ang bawkin natna dang pakhat Spondyloepiphyseal Dysplasia Tarda (SEDT) tih a awm bawk. Chûng pahnihte chu a ri inang viau laiin, danglamna tlem a awm bawk.

"Congenita" tih chu "pian lai" tihna a ni a, "Tarda" tih chu "tihkhawtlai" tihna a ni. Chu chu:

• SEDT symptoms hi kum 6 leh 8 inkarah a lang tlangpui a , mahse SEDC hi pian tirh atangin hmuh theih a ni.
• SEDT hian mipa chauh a nghawng a , mahse SEDC hian mipa leh hmeichhia a nghawng inang tlang thei.
• SEDC vei te hi retinal detachment hlauhawmna an nei a, mahse SEDT-ah chuan he hlauhawmna hi a hniam zawk tlangpui.

SEDC siam chhan hi eng nge ni?

SEDC thlentu ber chu gene `COL2A1` a mutation vang a ni. He `COL2A1` gene hian kan taksaah Type II collagen a siam chhuak thei a ni.Collagen an tih protein siam nan a pui a ni. Collagen hi kan taksaa connective tissue siam nan a pawimawh hle. Kan tissue te chakna leh pianzia petu a ni.

Type II collagen hi cartilage leh vitreous an tih thil pakhatah a awm ber a ni . Cartilage hi kan ruh leh beng bul ang hmuna awm, connective tissue chak tak, mahse flexible tak a ni. Vitreous hi jelly ang chi a ni a, kan mitmeng chhungah a awm a. Chuvangin he collagen hi siam that a nih loh chuan kan ruh, kan ruh leh kan mit ang hmunte a nghawng dan tur chu i ngaihtuah thei ang.

A tam zawkah chuan SEDC hi gene mutation thar (de novo mutation) avanga lo awm a ni . Chumi awmzia chu chhungkaw zingah tumahin he natna hi an la vei lo tihna a ni. ``de novo mutation`` hi sperm leh egg inzawmkhawm hian a thleng thin. Chu naupang chauh a nghawng a, chu naupang unaute chu a nghawng lo.

Mahse, a chang chuan he `COL2A1` gene mutation hi nu leh pa zinga pakhat atanga rochun theih a ni.

SEDC natna lan chhuah dante chu engte nge ni?

SEDC natna lan chhuah dan hi mi hrang hrangah a inang lo thei hle . Mi thenkhat chuan symptoms an nei tam zawk thei a, thenkhat chuan an nei tlem zawk thei bawk.

Taksa lam thil langsar ber berte chu:

• A zung, a kawr leh a ke leh a ke te hi a dang aiin a tawi zawk a ni.
• Being short , puitling hunah feet 3 leh 4 (0.91 - 1.2 meters) inkar a sang .
• A rilru zau tak, barrel ang maia siam . Breastbone emaw ribs emaw a rawn chhuak thei.
• Clubfoot a ni . Mahse, kut leh ke lian leh te, a pianzia erawh a pangngai mai thei.
• Spine curvature hrang hrang . Entirnan, sideways curvature (Scoliosis), backward curvature (Kyphosis), hmalam curvature (Lordosis), emaw hengte inzawmkhawm ang chi dinhmun a awm thei.
• Hmaiah inthlâk danglamna ṭhenkhat , mit zau tak, hmui ruh hring, a nih loh leh hmui hrual .
• Vertebrae of the spine chu a flatten emaw a nghet lo emaw a ni .
• Hip emaw khup emaw inzawmna chhunglam hawia inher .

Heng thanna lama harsatna avang hian side effects a awm thei bawk:

• Arthritis natna a awm.
• Kal leh che harsa .
• Hriatna hloh .
• Joint stiffness, na, leh dislocations te .
• Sciatica hi nerve pakhat compression avanga hnungzang hnuai lam, hnute leh ke hnung lam natna thlentu a ni.
• Chhung emaw ruhro emaw hmasawnna lama harsatna avanga thawk harsa .
• Vision problems , a bik takin nearsightedness nasa tak leh retinal detachment .
• Kal lai chuanWaddling gait emaw, kea kal zir nan hun rei tak hman emaw.
• Muscle tone tlahniam (Hypotonia) .

Pawimawh tak chu SEDC vei te hian rilru lama hmasawnna tha tak an nei tlangpui. Zirna lama harsatna nei hi hmuh tur a awm lo tihna a ni. Mahse, taksa hmasawnna atana thil pawimawh tak tak, thut leh kea kal te hi kum tling takah chuan a thleng thei lo mai thei.

SEDC dinhmun hi engtin nge kan hriat theih ang?

Doctor chuan SEDC hi naupang taksa lama a natna lan chhuah dan leh a hnuaia test result te uluk taka en hian a hriat theih a ni.

• Genetic testing - Hei hian `COL2A1` gene-ah hian mutation a awm leh awm loh dik takin a hriat theih.
• X-ray hmanga ruh zawng zawng.
• Imaging test dang, CT scan (Computed Tomography scan) leh MRI (Magnetic Resonance Imaging) te pawh a awm bawk.

SEDC enkawl dan tur a awm em? Dam theih a ni em?

Vanduaithlak takin SEDC hi damdawi a la awm lo . Mahse, lungngai suh. Enkawlna atanga i beisei theih tur thenkhat chu hetiang hi a ni:

• I natna lan chhuah dan control leh tihtlem .
• A theih chuan ruh chhiatna (skeletal deformities) te chu surgery hmanga siamthat .
• Hliam leh mit hmuh lohna ang chi harsatna awm thei venna .
• I chakna leh i kal theihna tihchangtlun .

SEDC tan hian eng enkawlna nge awm?

The treatment options offered vary from person to person , eng harsatna bik nge i neih leh engtiang chiahin nge a nasat tih a zirin.

Doctor ten an enkawl reng tur a ni . Hetiang hian harsatna eng emaw a lo awm chuan hriatchhuah leh enkawl thuai theih a ni. I medical team-ah hian specialist te pawh an tel thei a, chungte chu:

• Genetic counselor te an ni
• Mit lam doctor - Mit natna enkawltu te.
• Orthopaedic surgeon - ruh leh ruh surgery lama specialist te .
• Physical therapist - chakna, che leh kea kalna tihchangtlunna tura puitu mi.
• Rheumatologist - Ruh, ruh leh ruh natna, ruh natna, ruh natna te enkawltu doctor te .

Hengte hi intervention awm thei te chu a ni:

• Mobility-a pui theitu assistive devices , ke brace ang chi te.
• Mitdelna siamthatna tur glasses vuah.
• Ruh natna tihziaawmna tur damdawi .
• Taksa lam enkawlna .
• Spinal deformities siamthat nan operation neih a ni.
• Joint harsatna dang, entirnan joint replacement surgery .
• Retinal detachment siamthat nan operation neih a ni.
• Thâwk lak awlsamna tura enkawl .

SEDC nen chuan nun hi eng ang nge ni ang?

SEDC vei nun hi mi hrang hrangah a inang lo hle , a natna lan chhuah dan leh a nasat dan a zirin.

Hetiang dinhmun hian i kal theihna leh taksa tihchakna nasa takin a nghawng thei a ni. Mi tam tak chuan dam chhung zawng damdawi hmanga enkawl leh zai an ngai mai thei.

Mahse, a tha ber chu SEDC vei te hian rilru lama hmasawnna pangngai an nei a, dam chhung pangngai an hmang thei a ni .

SEDC ven dan tur a awm em?

Vanduaithlak takin SEDC hi genetic a nih avangin ven dan tur a awm lo . Chhungkaw thenkhatin `COL2A1` gene mutation an nei tih hriat hian fa neih chungchangah ngaihtuah nawn leh emaw, genetic counseling emaw an zawng thei a ni.

SEDC vei (nangmah emaw, i fa emaw) engtin nge i enkawl?

Nangmah emaw i fa emaw hian SEDC i vei a nih chuan, a natna enkawl dan tur hian heng tips te hi zawm a pawimawh hle:

• Ni ruat saah doctor-te hmu la, test leh follow-up appointment zawng zawngah tel vek rawh .
• Contact sports , a bik takin lu leh kawng hliam thlen thei thiltih atanga hla takah awm rawh , a chhan chu ruh hi a nghet lo va, awlsam takin a hliam thei bawk.
• Anesthesia i dawn hian fimkhur hle ang che . I doctor zawng zawng hnenah SEDC i vei tih hrilh la, i taksa pianphung thenkhat hian operation laiin harsatna a thlen thei a ni.
• Hetiang dinhmun hi i hmachhawn theih nan counselor zawng emaw, support group-a tel emaw tum ang che. Chu chuan mi dangte thiltawn a\angin zir chhuakin, nangmah chauh ni lo nia inhriatna a pe ang che.

SEDC chungchangah hian i doctor hnenah eng nge zawh belh i duh ang?

Nangmah emaw i fa emaw SEDC vei nia hriat i nih chuan i doctor-te hnenah heng zawhnate hi zawh a tha ang:

• SEDC hian ka taksa peng engte nge a nghawng ?
• Eng specialist nge ka hmuh ang?
• Follow-up test leh appointment atan engzat nge ka lo kal ang ?
• Eng enkawlna nge ka mamawh ?
• Anesthesia hi ka tan a him em ?
• He dinhmun hi ka fate hian an rochun thei ang em ?
• Kan chhungkaw member dangte pawh hian genetic testing an nei tur em ni ?
• Hetiang dinhmun hi i hmachhawn thei tur support group i hria em?

I fa hian enkawl ngai genetic condition a nei tih i hriat chuan hlauhna leh lungkhamna i neih hi thil pangngai a ni. Mahse, i medical team te chu i tanpui turin an awm tih hre reng ang che. An hmang hian support group i hmu thei bawk a, chutah chuan i thil tawn te chu he genetic condition hmuh tur awm lo tak nei midangte hnenah i sawi thei bawk.

Hriat reng tur pawimawh ber berte

Okay, chuvangin, SEDC chungchang kan sawi tawh atang chuan hengte hi i hriat reng tur pawimawh ber berte chu an ni:

• SEDC hi a awm lo hle a, pianpui genetic condition a ni .
• Hei hian ruh, ruh, leh a châng chuan mit a nghawng ber a ni .
• Hei hi damdawi kimchang awm lo mah se, natna lan chhuah dan control leh nunphung tihchangtlunna tur enkawlna hrang hrang a awm a ni .
• Intellectual development hi thil pangngai a ni , dam chhung pangngai pawh beisei theih a ni.
• Damdawi lam enkawlna dik tak, taksa enkawlna, leh a tul chuan operation tih te hmangin enkawlna tha tak neih theih a ni .
• Nangmah chauh i ni lo. Doctor leh support group te hnen atangin tanpuina i dawng thei ang .

He thu hi in tan a tangkai ngei ka beisei. Zawhna i neih chuan doctor zawh hreh suh.

` spondyloepiphyseal dysplasia congenita, SEDC, genetic natna, ruh thanna, ruh natna, tawi te, collagen, COL2A1 gene