I fate hmasawnna tur i ngaihtuah em? (Achondroplasia) chungchang hi i zir dawn teh ang!

I fa te hi naupang dang aiin a tawi deuhin i hria em? A nih loh leh i fa ke leh ke chu tlem a tawi deuh tih i hmu em? A chang chuan hetiang thil i hmuh hian hlauhna tlem a neih hi thil pangngai a ni. Vawiin hian nausen thanlenna tichhe thei genetic condition pakhat `(Achondroplasia)` chungchang kan sawi dawn a ni. Hemi chungchang hi hriat chian a pawimawh hle.

`(Achondroplasia)` tih hi eng nge ni? A awlsam zawngin i hrethiam ang u!

Awle, tunah chuan he `(Achondroplasia)` hi eng nge a nih i en ang u. Ngaihtuah teh, naute chu a pum chhunga a awm chhung hian a tam zawkah chuan naute ruhro chu cartilage tih hming pu tissue nem tak atanga siam a ni. Chumi hnuah chauh chuan he cartilage hi zawi zawiin ruh chak takah a chang a, chu chu ruh a ni. `(Achondroplasia)` ah chuan thil thleng chu i naute kut leh kea he cartilage tissue hi ruh ah a chang tha lo a ni. A awlsam zawngin, cartilage chu ruh-a chantirna kawngah hian harsatna tlem a awm a.

Hei hi genetic condition , genetic disorder a ni. Hei hian naupang kut leh ke sei zawng a tihniam ber a ni. A bik takin, kut zungtang (kut) chunglam leh ke chunglam (thighs) chu kut leh ke inang hnuai lam aiin a tawi zawk thin. Hei hi Doctor-te chuan `(rhizomelic shortening)` an ti a. Hei vang hian he dinhmun hi ``short-limb dwarfism`` kan ti bawk.

`(Achondroplasia)` leh `(Skeletal Dysplasia)` (dwarfism) te hi eng nge an danglamna?

`(Skeletal Dysplasia)` tih thumal hi i hre tawh mai thei. Mi thenkhat chuan "dwarfism" an ti bawk. `(Skeletal Dysplasia)` hi umbrella lian tak a ni tak zet a ni. Ruh leh ruhro (cartilage) hmasawnna tichhe thei dinhmun hrang hrang za tam tak a huam a ni. Chuvangin, `(Achondroplasia)` hi `(Skeletal Dysplasia)` chi khat a ni . `(Achondroplasia)` ah chuan ruh thanna hi kut leh keah a bik takin a target a ni. Hrethiam e?

Hetiang dinhmun hi ``Achondroplasia'' an tih hi thlahtute atanga lo chhuak a ni em?

Hei hi nu leh pa tam takin harsatna an neih chu a ni.

• Thu lawmawm tak chu a tam zawkah (80% vel) `(Achondroplasia)` hi rochun a ni lo. Nu leh pa san zawng pangngai leh harsatna dang nei lo pawhin he natna nei fa hi an nei thei lo. Hei hi naupang gene inthlak danglam thar vang a ni. Hei hi Doctor-te chuan `(de novo mutation)` an ti a. Chutiang nu leh pa te chuan he natna nei fa an neih leh a rinawm loh hle.
• Mahse, nu leh pa zinga pakhatin `(Achondroplasia),` natna a neih chuan naupangin a rochun theihna chance 50% a nei a ni. Hei hi `(autosomal dominant)` inheritance an ti a. Chumi awmzia chu nu leh pa zinga pakhat chauhvin a nei a nih pawhin natna vei gene chu a nghawng thei tihna a ni.
• Nu leh pa pahnih hian achondroplasia an neih chuan thil awmdan chu a buaithlak deuh thin. Tichuan, naupang hian natna khirh zawk homozygous achondroplasia an tih chu a neih theihna chance 25% a awm a ni. Hetiang dinhmun na tak hian nausen chu a piang thi emaw, a pian hnu rei vak lovah a thi emaw thei a ni.

A pawimawh ber chu he natna chungchangah hian rinhlelhna i neih chuan genetic counseling lak hi a ni. Chutiang chuan a chipchiar zawng chu i hre thei ang.

Hetiang natna (Achondroplasia) hian mi engzat nge a vei?

Hei hi thil awm dan tlangpui a ni lo. A tlangpuiin, he natna hian khawvêl puma nau piang 15,000 zînga pakhat aṭanga 40,000 zînga pakhat a nghawng a ni .

Engtin nge `(Achondroplasia)` hian naupang taksa a nghawng?

Hetiang natna nei naute hian an pian tirh hian taksa ruh chak lohna (hypotonia) engemaw zat an nei thei. Hei hian motor skill tihhmasawn a tikhawtlai thei a, chu chu crawling, sitting, leh walking te hi a ni. Hei hi thil pangngai a ni a, mahse en reng tur thil a ni.

Hei bakah hian heng naupangte hian naupan lai hian spinal cord compression leh upper respiratory blockage an neih theihna a sang hle a, hei hian hriselna lama harsatna engemaw zat a thlen thei a ni.

Thil dang hmuh tam tak chu:

• Thâwk harsa.
• Beng natna a awm fo thin.
• Thau lutuk duhna sang zawk neih.

Chuvangin naupang ``(Achondroplasia)`` vei zawng zawngte chu doctor enkawlna uluk tak hnuaiah enfiah reng a pawimawh hle. Chumi hnuah chauh chuan natna lan chhuahna awm thei te chu a hmain hriatchhuah theih a ni a, enkawl emaw, ven emaw theih a ni.

Eng thilin nge `(Achondroplasia)` a thlen?

Hetiang dinhmun thlentu ber chu gene mutation vang a ni . Kan taksa hian `(receptor)` bik a nei a, chu chuan embryonic stage-ah cartilage chu ruh-ah a chantir thei a ni. He `(receptor)` control tu gene `(FGFR3)` tih hming pu mutation hi `(Achondroplasia) thlentu ber a ni. A awlsam zawngin, cartilage chu ruh-a chantirtu signal chu a kal tlang tha lo.

`(Achondroplasia)` natna lan chhuah dan chu engte nge ni?

Hetiang natna vei naupangte zingah hian mizia langsar tak tak hmuh tur a awm a:

• Kut leh ke ruh (a bik takin kawr leh kut chunglam) ruh tawi .
• Kut leh ke chu a pangngai aia tawi zawk a ni.
• Middle finger (third finger) leh ring finger (fourth finger) (`trident hand` tia hriat bawk) inkarah hian gap lian tak a awm thei.
• Puitlingah chuan a san ber chu feet 4 (centimetre 122 vel) a ni .
• Lu chu a pangngai aia lian (macrocephaly) a ni .
• Hmai chu hmalam hawiin a rawn chhuak (`frontal bossing`).
• Hnar bul chu a flat (`midface hypoplasia`) a ni .
• Naupan laia hmasawnna tlai (e.g., ṭhut, kekawr, kea kal, naupang dangte aiin a tlai thei).

`(Achondroplasia)` hian hun rei tak chhunga nghawng a neihte chu engte nge ni?

Hetiang dinhmun nena kan nun hian hun rei tak chhunga nghawng engemaw zat a awm thei. Anmahni hriat reng a pawimawh:

• Hnung leh ke na.
• Thâwk harsa, a bik takin mut laiin thawk chawlh (`apnea`).
• Thau lutuk.
• Beng natna a awm fo thin.
• Ruhro (spinal stenosis emaw kyphosis emaw) a curvature (spinal stenosis emaw kyphosis emaw).
• Bow ang maia ke chhung lam emaw pawn lam emaw ben (`bowed legs`).
• A châng chuan thluak vêlah hian tui (extra fluid) a awm khawm (hydrocephalus).
• Obstructive sleep apnea (mut laiin thawkna kawng a tihkhawtlai avanga thawk lama harsatna awm).

Heng zawng zawng hi mi zawng zawngah a thleng vek lo a, mahse hriat reng a pawimawh a, a tul chuan damdawi lam thurawn lak a pawimawh.

Engtiang chiahin nge achondroplasia hi hriat theih?

Vawi tam tak chu naute pum chhunga a la awm laiin ultrasound scan an tih hian ``(Achondroplasia) natna chungchangah rinhlelhna a siam thei a ni.`` Chu chu, naupai tawp dawn lamah naute ke ruh chu a tlangpui aia tawi zawka a lan a, a lu lian zawka a lan chuan doctor-te chuan hei hi an ringhlel tihna a ni. Mahse, a tam zawkah chuan naute pian hnua test an tih hian a natna hi chiang takin a nemnghet a ni.

Engtin nge `(Achondroplasia)` natna hi hriat theih?

Doctor-te chuan achondroplasia hriat theihna atan test engemaw zat an hmang a:

• Taksa enfiahna: Naupang taksa pianphung (a ke tawi, lu lian ang chi) te chu an enfiah thin.
• X-ray: X-ray hmang hian ruh pianzia leh a than dan en a ni.
• Genetic testing: He test hi `(FGFR3)` an tih gene-ah hian mutation a awm leh awm loh finfiah nan tih a ni. Hei hi hmanraw bik ber a ni.
• Nu leh pa pakhat emaw, an pahnih emaw hian he natna hi an neih chuan naupai laiin test bik (prenatal diagnosis) hmangin hriat theih a ni bawk .
• A châng chuan, MRI (magnetic resonance imaging) emaw CT (computerized tomography) scan hmangin taksa chak lohna emaw, ruhro nerve compression emaw ang chi thil zawn theih a ni.

`(Achondroplasia)` enkawl dan tur chu engte nge ni?

Tun thleng hian he natna `(Achondroplasia) hi tidam kim thei tur damdawi bik hmuh tur a la awm lo.` Hei hian he natna thlentu genetic change hi tihdanglam theih a ni lo tihna a ni. Mahse, chu chu engmah tih theih a ni lo tihna erawh a ni lo.

Enkawlna tum ber chu he natna avanga natna lan chhuah dan leh harsatna awm thei te enkawl a, naupang chu a hrisel leh nuam thei ang bera nunpui a ni.

Doctor-te chuan naupang ṭhan chhoh dan chu a tir a\angin an enfiah \hin a, an san zawng, an rih zawng leh an lu vel teh rengin an enfiah \hin.

`(Achondroplasia)` natna hi damdawi kimchang a awm em?

Sawi tawh ang khan tunah hian achondroplasia hi damdawi a la awm lo. Mahse, hei hian a ti beidawng tur che a ni lo. Achondroplasia vei tam tak chu nun famkim, hrisel leh hlim takin an nung thei a ni.

`(Achondroplasia)` natna lan chhuah dan hi engtin nge kan enkawl ang?

Hetah hian symptoms enkawl hi a pawimawh ber a ni. Chu chu harsatna awm thei hriat chian a, chu chu venna atana hmalak tihna a ni. Entir nan:

• Weight management: Thau lutuk hi he natna nena lo awm harsatna a nih theih avangin ei leh in hrisel neih a, active taka awm hi a pawimawh hle.
• Inzai:
• Thluak chhehvela tui awmkhawm (hydrocephalus) a nih chuan, pressure tihhniam nan ventriculoperitoneal shunt an tih surgery tih theih a ni.
• Kawr chunglam nerve compression (craniocervical junction compression) avanga nunna atana hlauhawm thei dinhmunah pawh operation neih a ngai thei bawk.
• I rilru natna i neih fo chuan adenoids leh tonsils te paih chhuah nan operation i mamawh mai thei.
• Growth hormone: Naupang thenkhat chu growth hormone therapy pek an ni. Hei hian eng emaw chen chu san zawng tihpunna kawngah a pui thei a, mahse mi zawng zawng hian result inang an hmu vek lo. Hemi chungchang hi i doctor nen in inbia tur a ni.
• Thâwk harsa (apnea) tan: Mut laiin thawk harsatna i neih chuan CPAP (Continuous Positive Airway Pressure) an tih machine hman a tha mai thei.
• Beng natna tan: Beng natna i neih fo chuan ear tube emaw antibiotics emaw an pe thei che a ni.
• Social support: Naupangin khawtlang nun a tawrh theih nan leh midangte nena an inrem that theih nan an mamawh psychological support pek hi a pawimawh hle.
• Research: Tunah hian damdawi thar, a san zawng tlem a tisang thei tur chungchangah zirchianna kalpui mek a ni.

Ka fate hian achondroplasia a vei theihna chu ka tihtlem thei ang em?

Achondroplasia hi random, genetic mutation lo awm thar avanga lo awm a ni fo thin a, chuvangin chutiang random thil thleng tur ven dan tur a awm lo. Chu chu i thunun thei lo tihna a ni.

Mahse, i nu leh pa zinga pakhatin achondroplasia a neih chuan i fain he natna hi a rochun theihna tur tihtlem dan tur a awm. Entirna pakhat chu preimplantation genetic testing (PGT) tih hi a ni. Hei hian nausen (embryo) siam a, a genes te chu nu pum chhunga dah a nih hmain test a huam a ni. Hemi chungchang hi i OB/GYN provider emaw, genetic counselor emaw hnenah i zawt thei ang.

`(Achondroplasia)` vei dam rei zawng chu engzat nge ni ang?

Hei hi mi tam tak tan chuan ngaihtuahna lian tak a ni. Vanneihthlak takin achondroplasia vei tam zawk hi chu dam chhung pangngaiin an hmang thin. An finna pawh a pangngai a ni. Naupan lai hian hmasawnna tlai deuh deuh awm thei mah se, hei hian an finna a nghawng lo.

Achondroplasia hian hriselna lama harsatna engemaw zat a thlen thei tih hi a dik a ni. Mahse, chutiang chhinchhiahnate chu uluk taka enkawl a nih chuan, nakin lawkah hriselna lama harsatna lian tak takte chu a tam zawkah chuan ven theih a ni.

Engtin nge ka fa `(Achondroplasia)` vei hi ka puih theih ang?

Naupang achondroplasia vei nia hriatte chuan nun hlim tak, hrisel leh hlim taka nun theihna zawng zawng an nei a ni. Nu leh pa anga i tih theih pawimawh ber berte chu:

1. I fate damdawi lam mamawh enkawl: I fa chu a hun taka medical checkup-a hruai a, a tul anga enkawlna pek a pawimawh hle.

2. In lama naupang tan hmangaihna leh pawmtlakna boruak siam:

• Taksa lama harsatna awmte tihziaawmna: I fate’n nitin hna an thawh theih nan mahni chauha an thawh theih nan in chhunga thil awm danah inthlak danglamna tenau te siam la. Entirnan, sink emaw toilet emaw bulah step stool dah emaw, i fate thlen theihna hmuna light switch leh kawngkhar khar emaw dah emaw. Hei hian i fate zalenna a tipung ang .
• Psychological leh educational support pek: Naupang chu mi dangte’n an tihbuai thei a, sikul emaw hmun dangah emaw pawh ni se. Chutiang thil chu ven la, naupang inrintawkna siam la, a mamawh zirna lama puihna pe rawh.
• Dwarfism vei te tana khawtlang pawl leh pawl hrang hrang nena inzawmna siam: Nang leh i fate hian chutiang hmun atang chuan thu leh hla tam tak, tawnhriat leh tanpuina tam tak in dawng thei a ni.

Engtikah nge ka doctor ka hmuh ang?

Achondroplasia natna lan chhuah tam tak venna emaw tihtlem dan tha ber chu naupan lai atanga medical checkup neih fo hi a ni.

I fate hi heng thilte hi i hmuh chuan doctor pan nghal rawh:

• Naupan lai hian naupang san zawng chu a kum a zirin a pung lo a nih chuan , emaw , taksa lama thil pawimawh tak tak, thut, tlan, leh kea kal (`developmental delays`) a paltlang tlai a nih chuan.
• I fain thawk harsatna a neih chuan , beng natna a neih fo chuan , hnungzang leh ke a na a nih chuan emaw , thau lutuk a hlauhawm nia i ngaih chuan

Fate hriselna lama harsatna i neihte i enkawl lai hian thlirna tha neih a pawimawh hle tih hre reng ang che. I fate chu an kum nena inmil taka enkawl, hnawhchhuah emaw, an san zawng emaw thlir lovin, an mahni inngaihsakna siamna kawngah kawng thui tak a zawh a ni.

A tawp berah chuan take-home message

Achondroplasia hi genetic condition ni mahse nunna atana hlauhawm a ni lo.

• Hetiang dinhmun hi uluk taka hriattir a pawimawh hle.
• Naupang chu a tul anga damdawi lam enkawlna leh puihna pek a pawimawh hle .
• Complication tam tak chu a tir atanga symptoms hriatchhuah leh enkawl a nih chuan ven theih a ni.
• In leh khawtlang nunah naupangte tan hmangaihna, thlawpna leh pawmtlakna boruak siamin, nun hlim tak, lungawina neiin an nung thei a ni.
• Nangmah chauh i ni lo tih hre reng ang che. Hetiang natna vei naupang doctor, counselor leh nu leh pate hnen atangin tanpuina zawng rawh.

I fain achondroplasia a vei tih i hriat chuan lungngaihna leh hlauhna i neih hi thil pangngai a ni. Mahse, thu leh hla dik leh puihna i neih chuan nang leh i fa hian he zinkawng hi hlawhtling takin i zawh thei ang.

` Achondroplasia, dwarfism, skeletal dysplasia, genetic diseases, ruh thanna, FGFR3 gene, naupang thanlenna, hypotonia, hydrocephalus, sleep apnea