I naute hian ruh thanna lama harsatna a nei em? Diastrophic Dysplasia chungchang hi i zir dawn nia

Diastrophic Dysplasia'' tih thumal hi i hre tawh em? Hei hi i tan chuan thil thar a ni mai thei. Mahse hei hi hriselna lama harsatna awm lo leh chiang tak, kan hriat tur a ni bawk. Ngaihtuah teh, a chang chuan kan naute ke ruh te hi a tawi deuh a, a ruhte pawh a sei tha thei lo ang chi thil kan hmuh hian kan hlau hle a ni lawm ni? Hei hi chutiang symptoms thlen thei dinhmun a ni. Chuvangin, vawiinah hian he thu hi han sawi mai ila, i hriatthiam theih tur khawpin.

He diastrophic dysplasia hi eng nge ni tak tak?

A awlsam zawngin, dystrophic dysplasia hi thil awm lo tak a ni a, cartilage leh ruh te hmasawnna dik tak a nghawng a ni . It is congenital , chu chu naupang chu he natna nen hian a piang tihna a ni. Chhuan hrang hrangah a kal zel theih a ni.

Hetiang dinhmun hian a hnuaia thilte hi a thlen thei ber a ni:

• Joint dysplasia : Chumi awmzia chu kan taksa ruh (joint) te hi a lo thang tha lo tihna a ni.
• Kut leh ke tawi te .
• A sei zawng tawi .
• Skeletal system lo awm dan pangngai lo (skeletal dysplasia).

Hetiang dinhmun hian taksa peng hrang hrang a nghawng thei a ni. Entir nan:

• Beng
• Hmai
• Ke
• Kut a ni
• Hip area a ni
• Ke te
• Spine a ni

A chang chuan DD emaw DTD emaw, Diastrophic dwarfism emaw, Diastrophic nanism syndrome emaw an ti bawk. Engti kawng pawhin, dinhmun inang tihna a ni.

Hetiang dinhmun hi engtiang chiahin nge a tlem?

Hei hi a takah chuan thil awm lo tak a ni . Nau piang thar 500,000 zinga pakhat chauh he natna hian a vei nia chhut a ni. Mahse, ram thenkhat, Finland-ah te chuan he dinhmun hi hmuh tur a tam zawk. Hei hi a chhan chu an rochun inzawmna vang niin an sawi. Chu ramah chuan he natna hian naupang 30,000 zinga pakhat chauh a nghawng a ni.

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

Dystrophic dysplasia thlentu ber chu genetic mutation a ni . Hei hi rochun a ni. Chumi awmzia chu chhungkuaa mi tu emaw chuan an neih chuan an fate pawhin an neih theihna chance a awm tihna a ni.

He genetic mutation hian kan taksaa cartilage siamna atana pawimawh tak gene pakhat a nghawng a ni. I hria em, cartilage hi tissue chak leh flexible tak a ni a, naute embryonic stage, chu chu nu pum chhunga a awm laiin ruh siamna atana hman a ni.

Naute a lo seilian chhoh zel chuan cartilage tam zawk chu ruh ah a chang thin. Mahse ruh tawp, hnar leh beng ang hmunah chuan ruh (cartilage) chu a awm reng a ni. Chuvangin, chu gene mutation chu a lo awm chuan chu gene chuan cartilage leh ruh siamnaah a pui tha thei lo.

Eng gene mutation hian nge hei hi a nghawng?

Hetiang dinhmun thlentu genetic mutation bik, DTD,'' hi SLC26A2'' gene -ah a thleng a ni. DTDST'' (dystrophic dysplasia sulfate transporter) an ti bawk. He gene hian protein a siam a, chu chuan cartilage a siam a, cartilage chu ruh ah a chantir bawk.

A pawimawh ber chu mi pakhat chu he gene mutation hi carrier a ni thei a, mahse natna hi a nei lo. Mahse, nu leh pa pahnih hi carrier an nih chuan an fain natna a vei theihna chance 25% vel a awm.

Hetiang dinhmunah hian eng symptoms nge hmuh theih?

Diastrophic dwarfism symptoms hi mi hrang hrangah a inang lo thei hle. Mi tam zawkin an sei zawng tawi leh an than chak lohna an neih laiin, natna dang pawh taksa hmun hrang hrangah a lang thei bawk. Eng nge an nih i han thlir teh ang.

Lu leh hmui vel a symptoms hmuh theih te:

• Hmai zau tak leh sam sang tak .
• Beng a thim, a hring, a nih loh leh a pianzia a inthlak .
• A tlangpuiin jaw area te tak te (micrognathia).
• Ha natna, entirnan, ha te tak te emaw, ha chi khat emaw.
• Cleft palate chu hmui chunglam hawn dan pangngai lo a ni.
• Thâwk lak harsat .

A taksa peng hrang hrangte mizia: 1.1.

• Kut zungtang tawi tak tak (brachydactyly) a awm.
• "Hitchhiker's thumbs" – chu chu kut zungtang chu pawn lam hawiin a awm tihna a ni.
• Ke pakhat emaw, ke pahnih emaw chu chhung lam hawiin (clubfoot). Hei hi clubfoot an ti bawk .
• Kut leh ke tawi leh hrual.

Joints te mizia: 1.1.

• Joint deformities ( contractures ) – Hei hian joint te chu a tizau kim thei lo va, incheina pawh a ti tlem thei bawk.
• Joint thenkhat chu a inzawm khawm a , a che thei lo . Hei hian chetna a tikhawtlai bawk.
• Joint stiffness emaw loosening , emaw joint dislocations emaw a awm thei.
• Osteoarthritis nena inzawm ruh natna.

Hnunglam ziarang: 1.1.

• Forward curvature of the spine (kyphosis), chu chuan ruh chu hunched over angin a lantir thei.
• A hnungzang chu a sir lam hawia inher (scoliosis).

Hei hian thluak than danah nghawng a nei em?

Dystrophic dysplasia hian thluak emaw thluak hmasawnna emaw a nghawng tih report a la awm lo . Hetiang natna vei te hian finna pangngai an nei . Chuvangin ngaihtuahawm tur a awm lo.

Engtin nge he natna hi hriat chhuah a nih?

A châng chuan, naute pian hmain dystrophic dwarfism hi hriat theih a ni . I chhungkuaa mi tu emaw chuan he natna hi a neih chuan doctor-te chuan naupai tirh lamah genetic test neih a rawt mai thei.

He natna hi nausen ultrasound (fetal ultrasonography) hmangin a hriat theih bawk . He test hian naute chu a pum chhunga a lo thanglian zel angin thlalak a la thin. Thlalak-ah hian ruh-ah thil danglam emaw, a piansual emaw a awm a nih chuan doctor chuan dystrophic dysplasia a awm leh awm loh genetic test neih a rawt thei a ni.

Mahse, a tam zawkah chuan he natna hi naute pian hnuah hmuhchhuah a ni . Naute taksa enfiahna leh imaging test hmanga ruh chhe emaw, tawi emaw a awm tih hmuhchhuah a ni.

Hei hi eng enkawl dan nge ni ang?

Dik tak chuan DTD hi damdawi a awm lo . Enkawlna hian mimal tinte natna lan chhuah dan enkawl leh hriselna leh hriselna tha ber neih theihna tura puih a tum ber a ni.

Hetiang natna vei hian specialist team tanpuina a mamawh mai thei . Entir nan:

• Audiologist chu hriatna lama harsatna enkawltu specialist a ni .
• Genetic counselor chuan chhungkua chu he dinhmun hi hrethiam turin a pui tur a ni.
• Nutritionist-te chuan ei leh in lama harsatna i neih chuan ei leh in chungchangah thurawn an pe thei a ni.
• Orthodontist chu ha leh hmui nena inzawm harsatna enkawltu specialist dentist a ni .
• Orthopaedist (ruh leh ruhkawr lam thiam ).
• Naupang enkawltu doctor pakhat chuan .
• Physical therapist leh occupational therapist te hian a tha thei ang bera che leh nitin hna thawk turin an pui che a ni.
• Pulmonologist ( lung natna lama tui tak doctor ) chuan thawk harsatna a enkawl thin.
• A tul chuan surgeon-te chuan deformities te chu an siam tha thin.

Chûng mi zawng zawngte ṭanpuinain naupang chu nun ṭha ber a neih theih nâna ṭanpuina mamawh chu kan pe thei a ni.

Hei hi ven dan tur a awm em?

Dystrophic dwarfism hi ven theih a ni lo . I chhungkuaa mi pakhatin he natna hi a neih chuan naupai hmain genetic test neih hmasak phawt a tha.Hemi chungchang hi Doctor nen sawipui a tha. Test leh counseling hian carrier i nih leh nih loh leh i chhungte a nghawng theih dan tur a hriat theih nan a pui thei a ni.

Chuti a nih chuan, he dinhmun nen hian nun chu eng ang nge ni ang?

Diastrophic dysplasia hian nau piang thar thawk lama harsatna nei te chu a thihpui thei a ni . Mahse, mi tam tak chu puitlin thlengin an nung a ni . Natna nasat dan azirin hrehawmna leh chak lohna engemaw zat nen an khawsa a ngai mai thei. Mahse, damdawi lam enkawlna leh \anpuina \ha tak an neih chuan anni pawh hian nun \ha tak an nei thei a ni.

I doctor zawh tur zawhna pawimawh

I fain dystrophic dysplasia a vei a nih chuan hetiang zawhna hi zawh hian zir belh a pawimawh:

• Ka fa taksa peng engte nge a nghawng?
• Hei hi dam chhung zawnga nghawng nei thei tur che a ni em?
• Ka fa hian eng ang specialist nge a hmuh ang? Engtianga zingin?
• Ruh emaw, ruh natna emaw enkawl nan kan tih theih tur a awm em?
• Hetiang natna emaw, natna ang chi emaw nei te tanpuitu pawl a awm em?
• Fa tam zawk ka neih chuan anni pawhin he natna hi an nei thei ang em?

A tawp berah chuan hriat reng tur pawimawh ber chu!

Dystrophic dysplasia hi a awm lo va, pianpui atanga lo chhuak a ni a, cartilage leh ruh te hmasawnna pangngai a tichhe thin . Hetiang natna vei te hian an taksa peng tawi te, ke leh ruh tawi te, leh ruhkawr harsatna te an nei fo thin. I chhungkuaa mi tu emaw hian hetiang natna hi a nei a nih chuan doctor nen genetic testing leh counseling chungchang sawipui a pawimawh hle.

Nangmah chauh i ni lo tih hre reng ang che. Hetiang dinhmunah hian thu dik hriat a pawimawh hle a, damdawi lam thurawn tul tak tak lak a pawimawh hle a, i thlawptu tur mite nena inzawmna siam a pawimawh hle. Doctor te zawhna zawh leh tanpuina dil pawh hlau suh.