I fa sei tawi lutuk hi i ngaihtuah em? Pseudoachondroplasia chungchang hi i zir dawn teh ang!

A chang chuan, ‘Aw, ka fa hi naupang dang aiin a tawi deuh a ni lawm ni?’ tiin i ngaihtuah mai thei. A nih loh leh doctor chuan i naute thanna chart a en a, ‘I naute san zawng chu a mark atanga tlem a ni’ tih ang chi hi a sawi em? Hetiang hunah hian a chhan chu pseudoachondroplasia an tih natna a ni thei a, chu chu vawiinah hian kan sawi dawn a ni. Hei hi thumal lian tak angin lang mah se, awlsam takin sawi ila.

A awlsam zawngin, `(Pseudoachondroplasia)` tih hi eng nge ni?

Pseudoachondroplasia hi, a awlsam zawngin, kan ruh thanna tichhe thei, genetic condition awm lo tak a ni. Hei hian mi thenkhat chu tawi, a nih loh leh kan sawi angin ‘tawi’ tirtu a ni. A chang chuan rochun a ni thei a, a nih loh leh random takin a thleng thei bawk.

Thil pawimawh tak chu `(Pseudoachondroplasia)` vei chuan a ke leh ke te chu a pangngai aia tawi zawk mah se, an hmel lan dan te, an lu lian leh te, leh an finna te chu a pangngai a ni. Hei hian finna a nghawng lo tihna a ni. Chuvangin ngaihtuah buai suh.

Hei hi hming dang a awm a, doctor ten heng hming an hman hi i hre tawh mai thei:

• `(PSACH)` tih a ni
• `(Pseudoachondroplastic dysplasia natna)` tih a ni
• `(Pseudoachondroplastic spondyloepiphyseal dysplasia natna avanga natna awm thei)`

Heng zawng zawng hi dinhmun inang hming a ni vek.

Hetiang dinhmunah hian engtiang chiahin nge a san ang?

A tam zawkah chuan naupang `(Pseudoachondroplasia)` vei chu a pian laiin a tawi lo. Pian pangngaia piang an ni. Mahse , kum hnih vel an nih veleh chauh hian naupang dangte nena khaikhin chuan an san zawng a tlahniam deuh tih an lantir tan thin. Chumi awmzia chu doctor-te hman thin growth chart-ah naupang san zawng chu naupang dang aiin a tawi zawk tih ziah a ni tan tihna a ni.

A tawpah chuan he natna vei zawng zawng deuhthaw hi a tlangpui aia tawi zawk an ni ang. Mipa chu feet 3 leh inches 11 (meter 1.19) vel a sang a beisei thei a, hmeichhia chuan feet 3 leh inches 9 (meter 1.14) vel a sang a beisei thei bawk .

`(Pseudoachondroplasia)` leh `(Achondroplasia)` hi eng nge an danglamna?

`(Achondroplasia)` tih natna pawh i hre tawh mai thei. Hei hi genetic condition dang a ni a, chu chuan short stature a thlen a ni. Tun hma chuan `(Pseudoachondroplasia)` leh `(Achondroplasia)` te hi natna inangah an ngai a. Mahse, tun hnaia zirchianna atanga a lan dan chuan an pahnih hian short stature siam mahse, an dinhmun hrang hrang pahnih an ni.

Achondroplasia hi gene dang a mutation avanga lo awm a ni. Achondroplasia vei te pawh hian hmel danglam tak an nei bawk. Mahse, tûn laia kan sawi tâk pseudoachondroplasia-ah chuan chutiang hmêl danglam tak chu a awm lo.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Pseudoachondroplasia hi a awm lo hle a, a natna hi a awm lo hle. Scientist-te sawi dan chuan, .Hetiang dinhmun hi naute piang 30,000 zinga pakhat emaw, naute 100,000 zinga pakhat emaw-ah a awm thin. Chuvangin thil awmze nei tak a ni lo.

Engvangin nge he `(Pseudoachondroplasia)` hi a lo awm? A chhante chu engte nge ni?

Hei hi a chhan ber chu kan taksaa gene pakhat a inthlak vang a ni. A dik tak chuan he dinhmun hi gene `(COMP)` (``Cartilage Oligomeric Matrix Protein`` tih tawi) a mutation vang a ni.

Tunah chuan he `(COMP)` gene hi eng nge a nih, he `(chondrocytes)` hi eng nge ni tih i ngaihtuah mai thei. Hetiang hian ngaihtuah mai rawh:

Kan taksaah ruh a lo pian hmain chu hmunah chuan cartilage an tih thil a awm a. Rubber ang deuha tissue flexible deuh a ni. He cartilage siamtu cell te hi `(chondrocytes)` an ti a. Heng `(chondrocytes)` cells te hi an thawk tha a, an hrisel theih nan gene `(COMP)` hi a pawimawh hle. In sak nan brick tha i mamawh ang bawkin heng `(chondrocytes)` cell te hi ruh siam that nan a hrisel a ngai a ni.

A tlangpuiin, naute chu a pum chhunga a lo seilian ang zelin, he ruh (cartilage) hi zawi zawiin ruhah a chang ta a ni. Mahse, kan taksaah hian ruh (cartilage) thenkhat chu a awm reng a, a bik takin ruhkawr venna atan leh ruh tawp khuh nan.

Chuvangin, `(Pseudoachondroplasia)` vei miah chuan `(COMP)` gene inthlak danglamna sawi tak avang hian heng `(chondrocytes)` cell chhungah hian protein pangngai lo tak tak a awm khawm thin. Tichuan heng cell te hi an thi thuai thin. Chutiang a lo thlen chuan ruhkawrteah harsatna a lo awm a, ruhte pawh a thang tha lo. Chuvang chuan height loss leh ruh kaihhnawih harsatna dang a awm thin.

He `(COMP)` gene mutation hi a chang chuan nu leh pa atanga fate hnenah a kal thei bawk. Chumi awmzia chu nu emaw pa emaw pawhin he natna hi an neih chuan an fate pawhin an rochun theihna chance 50% vel an nei tihna a ni. Thil danglam bik dang chu nu emaw, pa emaw zinga pakhat chauhvin he natna hi nei mah se, naupang chuan a la nei thei tho a ni.

Mahse a tam zawkah chuan heng genetic mutations te hi random takin a thleng thin a, chu chu chhungkaw history nei lovin (spontaneous mutations) a thleng tihna a ni.

`(Pseudoachondroplasia)` awmna hriat theihna tur symptoms te chu engte nge ni?

A tam zawkah chuan `(Pseudoachondroplasia)` chhinchhiahna hi pian tirh lamah hmuh tur a awm lo. A hmaa kan sawi tawh ang khan hmel lan dan te, lu lian leh te, finna te hi a pangngai vek a ni. Mahse , skeletal abnormalities hi thla 9 leh kum 3 inkar ah a lang tan thin. Chumi hnuah chuan heng chhinchhiahnate hi naupan lai zawng zawngah a langsar zual zel a ni.

Hun a kal zel a, heng ang symptoms hi i hmu thei ang:

• Ke pianzia inthlak danglam: Naupang thenkhat chuan ke khuh emaw, khup knock emaw an nei thei. A châng chuan ke pakhat chu kawng khatah a awm thei a, kawng dang chu kawng dangah a awm thei bawk (windswept deformity).
• Curvature of the spine: Spine chu a sir khatah a inher (Scoliosis) emaw, hmalam a inher (Kyphosis) emaw a awm thei. Chungte chuan hnungzang na leh thawk harsatna a thlen thei a ni.
• Joint laxity leh stiffness: Joint tam tak (e.g., kut zungtang, kutphah) chu a tlangpui aiin a lo hlim zawk thei (joint laxity). Mahse, elbow leh hips hi a chang chuan a nghet deuh thei.
• Joint pain: Hei hi hun kal zelah osteoarthritis-ah a chang thei. Chumi awmzia chu ruh natna a pung thei tihna a ni a, a bik takin i upat deuh deuh chuan.
• Neck instability: Odontoid hypoplasia, ruh chunglam a lo thanglian loh vang hian kawng instability a thlen thei a ni. Hei hi ngaihtuahawm tak a ni a, kawr chhunga nerve te a tichhe thei a ni.
• Kut leh kut zungtang tawi: Kut leh kut zungtang hi a tlangpui aia tawi zawk a ni thei.
• Shortness: Hei hi mizia pawimawh ber leh langsar ber a ni.
• Skin folds: Hmun thenkhatah chuan vun folds extra i hmu thei.
• Kal dan inthlak danglamna: Hip ruh a danglam chuan kea kal laiin waddling gait, duck ang maiin a awm thei.

Heng symptoms te hi mi zawng zawngah a lo thleng vek lo. Mi thenkhat chuan symptoms thenkhat chauh an nei thei a, thenkhat erawh chuan an nei tam zawk thei bawk. Mi tin a inang lo.

Engtin nge doctor-te hian he natna (Pseudoachondroplasia) hi an hriat theih?

Doctor chuan pseudoachondroplasia hi a hriat theih ber chu naupang enfiah a, X-ray hmanga ruh leh ruhkawr dinhmun enfiah a ni. X-ray hmang hian ruh pianzia leh a than dan te, ruh tawp lama inthlak danglamna bik eng pawh chu chiang takin a hmu thei a ni.

Tin, he natna thlentu gene mutation (COMP gene-a) hi a awm leh awm loh hriat chian nan genetic testing pawh tih theih a ni bawk. Hei hian thisen sample lak a huam tlangpui.

Chhungkaw zinga mi pakhatin `(Pseudoachondroplasia)` a vei a nih chuan, chu chu he natna vei theihna sang tak nei chhungkaw zinga mi i nih chuan embryonic stage-ah genetic testing tih theih a ni. Chu chu nausen pum chhunga a la awm lai a ni. Hei hi testing method `(Chorionic Villus Sampling)` emaw `(Amniocentesis) .` tih hmanga tih a ni a, hengte hi a tul chuan, specialist doctor te thurawn anga tih chauh a ni.

`(Pseudoachondroplasia)` natna hi eng enkawlna nge ni?

Pseudoachondroplasia enkawlna chu i natna nasat dan leh i hriselna zawng zawngah a innghat a ni. A châng chuan, enkawlna chiang tak a ngai lo va, harsatna a awm leh awm loh enfiah reng reng chauh a ni. Mahse, mi ṭhenkhat chuan enkawlna an mamawh ve tho. Enkawlna atan hian:

• Painkillers: Natna tidamtu ``Analgesics`` ang chi hi ruh natna tihziaawmna atan pek theih a ni.
• Spinal curvature siamthatna: 1.1.Spine-a curvature (scoliosis, kyphosis) a awm chuan an hak theih nan special support (braces) pek theih a ni a, a nih loh leh operation hmangin siamthat theih a ni bawk.
• Counselling: Short stature hian psychosocial effects a neih theih nan counseling zawn a pawimawh hle. Hei hi naupang leh nu leh pa tan pawh a pawimawh hle.
• Genetic counseling: He natna hian chhungkaw member dangte pawh a nghawng thei a, chuvangin an tan genetic counselling zawng hi a tha hle. Hei hian nakin lawka chhungkaw ruahmannaah a pui dawn a ni.
• Physical therapy leh occupational therapy: Physical therapy leh occupational therapy hian i chakna a tipung thei a, joint flexibility a vawng reng thei a, nitin hna awlsam zawkin a thawk thei bawk.
• Ruh leh ruh lama harsatna nei tan operation: Ruh nena inzawm surgery dang, hip replacement leh knee osteotomy te hi a ngai mai thei. Chungte chuan natna a tihziaawm bakah ruh hnathawh a titha thei bawk.
• Spine leh neck stabilization surgery: Neck leh spine-ah instability a awm chuan surgical fusion hmangin vertebrae pahnih emaw a aia tam emaw fuse-in stabilize theih a ni.

Mi zawng zawng hian heng enkawlnate hi an mamawh inang vek lo. I medical team chuan i tana tha ber tur treatment plan an ruat ang.

`(Pseudoachondroplasia)` vei tan chuan hmalam hun chu eng ang nge ni ang?

Hei hi mi tam tak tan chuan thlamuanthlak tak a ni. `(Pseudoachondroplasia)` natna hian i rilru lama hmasawnna leh dam chhung a nghawng lo. `(Pseudoachondroplasia)` vei te hian nun active, productive tak an hmang tlangpui. Mi tam tak pawhin mahni chhungkaw nun an nei ve bawk. Chuvangin ngaihtuahawm tur a awm lo. A pawimawh ber chu harsatna awm thei te hriat hmasak a, uluk taka enkawl hi a ni.

Hetiang dinhmun hi ven dan tur a awm em?

Pseudoachondroplasia hi genetic mutation avanga lo awm a nih avangin a takin a ven theih dan tur a awm lo tak zet a ni.

Hetiang dinhmun hi i neih chuan, naupai i nih chuan i naute hian he gene hi a rochun theihna chance 50% vel a awm. Sawi tawh ang khan nau neih hmaa genetic testing hian he gene mutation hi a hmuchhuak thei a ni. I doctor chuan chhungkaw hnai tak takte chu genetic counseling dawng turin a rawt thei bawk.

Engtin nge `(Pseudoachondroplasia)` vei hian nangmah emaw i fa emaw i enkawl tha?

Nangmah emaw i fa emaw hian pseudoachondroplasia i vei a nih chuan hetiang hian i in enkawl tha thei ang:

• Medical test neih tura ruahman:I doctor-in a rawt follow-up test zawng zawngah tel vek rawh. Hei hian i hriselna a enfiah ang a, harsatna i neih chuan rang takin i hmu thei ang.
• Ruh tichhe thei thil tih loh tur: A theih ang anga ruh natna thlentu leh a tul lo taka lungkhamna thlen thei thil tih loh tur. Entirnan, contact sports leh sports-ah chuan zuang lutuk hi a tha lo hle.
• I kawng enkawl rawh: I kawr chu ben lutuk lo la, hei hian ruhro lama harsatna a tipung thei a ni. Hemi chungchangah hian `(Odontoid hypoplasia)` i neih chuan i fimkhur hle tur a ni.
• Joint-friendly exercises: I ruh leh ruhkawrte chunga stress tlem zawk siamtu exercise-ah rilru pe rawh. Kea kal leh tui chawi ang chi thil hi a ropui hle. Chungte chuan i ruhte a tichak a, natna a tiziaawm bawk.

Heng thilte hi enkawl hian nun a ti awlsam hle thei a ni.

Engtin nge naupang `(Pseudoachondroplasia)` vei chu he natna hi i hmachhawn theih ang?

Naupang ṭhenkhat chuan hmuh theiha inthlâk danglamna avângin an mualpho a, an mualpho thei a, chu chu an sei tawi ang chi a ni. Hei hian an khawtlang inlaichinna pawh a nghawng thei a ni. I fain he natna a hmachhawn theihna tura i tih theih ṭhenkhat chu hetiang hi a ni:

• Mental health counselor hmu rawh : I fain an rilru natna a hriatthiam theih nan leh a enkawl theih nan mental health counselor hmu turin ngaihtuah rawh.
• I fate nên zalen takin inbiakna nei rawh: I fate chu an hriatthiam theih tûr ṭawngkam awlsam tak hmangin thil awm dân chungchâng chu zalen takin sawipui rawh. An zawhnate chu dawhthei takin chhang rawh. "Midang aiin tlem i danglam a, mahse i hlu hle" tih ang chi hi sawi rawh.
• Naupang chu a bula awm fo mite hriattir: Naupang chu a bula awm fo thin mi, sikul zirtirtu te, thiante te, leh chhungte te hnenah he dinhmun hi hriattir hi a tha hle. Tichuan an hrethiam thei a, an pui thei bawk.
• Support group-a tel: Support group emaw, national advocacy organization emaw, chutiang dinhmuna ding chhungkaw dangte nena inhmuhna tur a awm chuan, anmahni zawm chu chakna nasa tak a ni thei. Midangte thil tawn atang hian zir tur tam tak a awm a.
• Sikul-a tanpuina: Naupangin a zir that theih nan leh sikulah midangte nen engmah tihduhdahna awm lovin an thawhho theih nan zirtirtute hnen atangin thawhhona ruahmanna la rawh. Naupang tan awlsam zawk nan classroom chair leh desk ang chi thil i ruahman thei mai thei.
• Zawhna chhân dân zir rawh: Miin zawhna a zawh huna zawhna chhân dân chungchâng chu i fa hnênah sawipui rawh. Entirnan, thil awlsam leh tawi tak sawi i practice thei a, chu chu, "Ka ruhte a lo seilian tawh lohna dinhmun nen ka piang a ni," tih ang chi hi a ni.

I hmangaihna, i thlawpna leh i hriatthiamna hi i fain he dinhmun nena hlim taka a nun theihna tura chakna lian ber a neih tur a ni tih hre reng ang che.An theihnate ngaihlu la, fuih rawh.

Chuti a nih chuan, he thawnthu atang hian eng thil nge kan in lama kan hruai haw tur pawimawh ber? (In lama hruai tur thuchah)

Okay, tunah chuan `(Pseudoachondroplasia)` chungchang hi kan sawi nasa tawh a ni lawm ni? Thil awlsam tak tak hriat reng tur thenkhat chu hetiang hi a ni:

• Pseudoachondroplasia hi genetic condition a ni a, ruh thanna a tichhe a, chu chuan ruh a ti tawi a ni.
• Hei hian finna leh dam chhung a nghawng lo.
• Symptoms te chu ke ruh tawi, ruh natna, leh ruhro curvature te hi a awm thei.
• Hei hi medical test, X-ray, leh genetic test hmanga finfiah theih a ni.
• Enkawlna hrang hrang a awm. Harsatna awmte chu natna tidamtu, taksa lam enkawlna, leh a tul chuan operation tih ang chi thil hmanga enkawl theih a ni.
• Hetiang dinhmun hi ven theih ni lo mah se, hriat hmasak leh enkawl dan dik chuan nun hrisel, thawkrim tak i neih theih nan a pui thei che a ni.
• Naupangin hetiang dinhmun hi a neih chuan a pawimawh ber chu hmangaihna, thlawpna leh hriatthiamna pek hi a ni. Khawtlang nunah tha taka an thawh theih nan chakna pe rawh.

Hemi chungchanga zawhna dang i neih chuan i chhungkaw doctor emaw, ruh lama mithiam emaw nen inbiakna neih hreh suh. Anni chuan an puih belh leh thei ang che.

` Pseudoachondroplasia, sei tawi, dwarfism, ruh than, genetic natna, COMP gene, ruh natna