Weaver Syndrome hi eng nge ni? I fa chu fimkhur rawh!

Naupang thenkhat chu an kum rualpui naupang dangte aiin an sang zawk tih i hmu ngai em, a nih loh leh an hmel lan danah danglamna engemaw zat a awm tih i hmu ngai em? A chang chuan nu leh pa kan nih angin hetiang thil kan hmuh hian kan buai deuh thin a ni lawm ni? Hetiang hunah hian rilru tibuaitu a ni thei a, mahse, Weaver Syndrome tih hming pu, genetic condition hmuh tur awm lo tak a awm a ni. Vawiin hian he thu hi i hriatthiam theih tur awlsam takin kan sawi dawn a ni.

Weaver Syndrome hi eng nge ni tak tak?

A awlsam zawngin, Weaver Syndrome, a châng chuan Weaver-Smith syndrome tia koh chu genetic condition a ni . Hemi kawngah hian a bulpui ber chu taksa ruhte hi a mamawh aia rang zawkin a thang lian zawk a ni. Hei hian naupang chu an kum aia sang zawkah a siam thei a ni. Tin, he natna hian naupang hmel leh lu lian leh te a tidanglam thei bawk. A chang chuan taksa ruh leh taksa peng dang a nghawng thei bawk.

Mi zawng zawng hi a nghawng dan inang vek an ni lo tih hre reng ang che. Mahse, mi tam takin an tawn ber chu a sang lutuk hi a ni. Nangmah emaw i fa emaw hian Weaver Syndrome i nei a nih chuan i taksa ruh (muscle tone) a tlahniam thei a, kea kal leh thil chelh harsa i ti thei a, i kut emaw ke emaw a kun emaw, a tichhe emaw a ni thei bawk. Naupang thenkhat chuan rilru lama harsatna an nei thei bawk . Hei hi a na lo atanga na tak thlengin a awm thei.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Hei hi a takah chuan thil awm lo tak a ni. Doctor-te chuan khawvel pumah mi tlemte chauh an hmuchhuak a, mi 50 vel an ni a, chuvangin a tlem zia chu i ngaihtuah thei ang.

Weaver Syndrome hian engtin nge hriselna a nghawng?

Hetiang dinhmun hian naupangin cancer chi khat Neuroblastoma tih chu a vei theihna a tipung deuh thei a ni. Neuroblastoma hi cancer chi khat a ni a, naupang kum 5 hnuai lam a vei tlangpui a, naupang thenkhat chuan pianpui thinlung natna an nei thei bawk a, zai a ngai thei bawk. Mahse, damdawi lam enkawlna leh enkawlna dik tak nen , Weaver Syndrome vei naupang tam zawk chuan puitlin thlengin nun hrisel tak an hmang thei a ni.

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

Weaver Syndrome hi genetic disorder a ni a . Genetic disorder chu kan genes-a inthlak danglamna (mutation kan tih) a awm chuan a lo awm thin a ni. Weaver Syndrome hi gene pakhat EZH2 nen a inzawm a ni. He EZH2 gene-a mutation hian ruh a tikehsawm a ni .A thang chak zawk. Tin, hei hian chain reaction a siam a, chu chuan taksa chhunga gene dang tam tak a nghawng bawk. Chuvang chuan Weaver Syndrome hian taksa peng hrang hrang, ruh leh taksa peng hrang hrang a nghawng thei a ni.

Mahse, he `(EZH2)` gene mutation hian Weaver Syndrome a thlen dan hi doctor-te chuan an la hre chiang tawk lo. Weaver Syndrome vei zinga a chanve vel chuan he gene mutation hi an nu leh pa pakhat hnen atangin an rochun thin. Nu emaw pa emaw hian he `(EZH2)` gene mutation hi a neih chuan naupang pawhin fa an neih hunah a rochun theihna chance 50% vel a awm.

Mahse, Weaver Syndrome hi nu leh pa atanga rochun a ni ngai lo. Mi thenkhat chuan he gene mutation (EZH2) hi an nu leh pate hian an nei lo a nih pawhin an nei thei a ni.

Weaver Syndrome natna lan chhuah dan chu engte nge ni?

Weaver Syndrome symptoms hi naute chu a pum chhunga a la awm laiin hmuh theih a ni . I naupai lai ultrasound scan lai hian doctor chuan naute ruh chu a pangngai aia sei a ni tih a hmu thei a ni. Chutiang a nih chuan doctor chuan naute hian macrosomia an tih natna a nei a ti mai thei a, chu chu naute chu a tlangpui aia lian zawk tihna a ni.

I nau piang thar hian Weaver Syndrome a vei a nih chuan an pian laiin an rei zawk thei a, an pian laiin an rihna a sang zawk thei bawk . Weaver Syndrome vei naute chu aw ri bengchheng tak, hniam tak, bengchheng takin an tap tlangpui.

A then phei chuan naute hian thla engemaw zat chhung chu natna lanchhuahna langsar tak tak a nei lo thei bawk.

I doctor chuan i naute chu "advanced bone age" a ni a ti mai thei. Chumi awmzia chu a ruhte chu a pangngai aiin a puitling chak zawk tihna a ni. I naute thanna chu a rang thei hle a, a than dan pangngai chart pawh a pel thei bawk.

Weaver Syndrome hian lu emaw hmai emaw a hnuaia mi ang hian a tidanglam thei a ni.

• Hmai zau tak
• Mit chhung lam kil (Epicanthal folds) ah vun dang (extra skin) .
• A hnuai lam hawia palpebral fissures awm
• Orbital hypertelorism ( mit inhlat lutuk ) .
• Lu lian tak nei (Macrocephaly) .
• Beng lian emaw, set hniam emaw
• A hmui chunglam leh hnar inkar philtrum sei zawng tihpun
• A hnuai lam hmui te tak te `(Micrognathia)`

Weaver Syndrome hian taksa peng dang leh system dang a nghawng thei a ni. Nang emaw i fa emaw hian he natna hi i neih chuan:

• Thinlung natna (congenital heart conditions) a awm thin
• Clubfoot emaw metatarsus adductus emaw a awm thei
• Elbows emaw khup emaw, a kim thei lo
• Kut zungtang (Camptodactyly) kimchang taka tihzauh theih lohna leh ke ruh lian zau tak
• Ke ruh ruh (joint) a deformities
• Thinlung lama harsatna nei te
• Abdominal muscles loseness hian hernia (intestinal protrusion) a thlen thei.
• Scoliosis natna (Scoliosis) a ni
• Kut leh kea taksa ruh (muscle stiffness) hriatna
• Nausen leh naupang tê tête hmasawnna lama thil thleng tur thlen harsa (e.g., lu chawi sawn, inher, thut leh kea kal) .

Engtin nge hei hi i hriat chian tak?

I doctor chuan Weaver Syndrome a rinhlelh chuan EZH2 gene mutation zawng turin genetic test an ti thei ang . Hei hian thisen sample lak a, genetic testing lab-a thawn a huam tlangpui.

A châng chuan, i doctor chuan gene mutations engemaw zât a test thei a, chu chuan genetic condition dang a neih loh phah thei bawk. Hei hi genetic testing panel an ti a . Hei hi a chhan chu genetic condition dang, Sotos syndrome ang chi, Weaver Syndrome ang chi symptom nei a awm vang a ni. Chuvangin, hetiang testing panel hian nangmah emaw i fa emaw hian eng gene mutation nge i neih tih chiang takin a hriat theih nan a pui thei che a ni.

Weaver Syndrome hi eng enkawlna nge ni?

Tunah hian Weaver Syndrome hi damdawi a la awm lo. Mahse, i doctor chuan nangmah emaw, i fa emaw chu he natna enkawl tûrin a ṭanpui thei a , enkawlna ruahmanna siamin, chutah chuan:

• Thinlung lama harsatna nei an awm chuan nungchang lama hriselna enkawlna (e.g., special education, behavioral therapy) a awm thei a ni.
• Congenital heart conditions a awm chuan Cardiovascular care hmangin enkawl la, enkawl rawh .
• Sikul hnathawh leh zirlai atana puihna dang (e.g., special tutoring, educational counselor).
• I ruh, i kut, a nih loh leh i ke-ah harsatna i neih chuan, ruh lam enkawlna emaw, damdawi dang emaw tih a ngai mai thei .
• Physical therapy hmanga taksa chakna leh taksa inrem lohna tihhmasawn.

A pawimawh ber chu, heng zawng zawng hi naupang hrang hrangah a inang lo vek avangin, doctor team pakhat chu naupang tana remchang tur he enkawlna ruahmanna siam turin an inkhawm a ni.

Weaver Syndrome laka inven dan tur a awm em?

Vanduaithlak takin tunah hian Weaver Syndrome ven dan tur hriat a la awm lo.Naupangte hian an nu leh pate hnen atangin hei hi an rochun thei a, mahse chhungkuaa tumahin an neih loh chuan a takin a lo thang lian thei bawk. Nu leh pa tan chuan he genetic mutation hi kengtu an ni thei a, mahse an hre lo mai thei.

Engtin nge risk-ah ka awm tih ka hriat theih ang?

I chhungkuaa mi pakhatin inherited condition emaw, gene mutation hriat lar emaw a neih chuan , i doctor hnenah genetic testing chungchang zawh a tha. Heng test te hian hriselna lama harsatna thlen thei gene mutations thenkhat a hmuchhuak thei a ni. Heng test-te hian i fate hnena i pek theih tur genetic condition te hriat theihna turin a pui thei che a ni.

Weaver Syndrome vei tan chuan eng nge a hmalam hun?

Weaver Syndrome damdawi awm lo mah se, he natna vei te hian enkawl dan dik tak an neih chuan hrisel takin an nung thei a ni. A pawimawh ber chu i natna lan chhuah dan enkawl dan tur leh i mamawh enkawlna i hmuh theih nan doctor pan fo hi a ni. Weaver Syndrome vei naupang thenkhat chu neuroblastoma an tih cancer vei an hlauhawm hle a, a tam zawk erawh chuan an vei lo. Mahse, i doctor chuan neuroblastoma symptoms chungchang a sawipui thei che a, a tul chuan i fa tan test dang a ti thei bawk.

Engtikah nge damdawi lam thurawn i lak ang? Eng symptom nge i ngaihtuah tur?

Checkup neih fo a pawimawh a, taksa leh rilru lama harsatna i neih apiang doctor nen inbiakna neih a pawimawh. I doctor-in a pek che care plan chu zawm rawh. I fain Weaver Syndrome a vei chuan chutiang bawk chuan i ti tur a ni.

A bîk takin, i fain a hnuaia neuroblastoma chhinchhiahnate hi a nei nia a lan chuan , i fa doctor hnênah hrilh nghâl rawh:

• Mit chhuak emaw mit vel a dark circle emaw.
• Kawr emaw, ruh (ril, rilru)-a lump emaw tumor thar lo lang.
• Diarrhea, pum na, chaw ei chak lohna.
• Khawsik emaw khuh emaw avanga chau lutuk tih hriat.
• Vun hnuaia blue emaw purple emaw bumps lo lang.
• Vun dum (pale skin) a ni.
• Pum a hring chhuak.
• Thâwk harsa.
• Ke leh ke chak lohna emaw paralysis emaw (kal theih lohna ang chi).

A tawp berah chuan thil hriat reng tur (Take-Home Message) .

Weaver Syndrome hi a awm lo hle a , mi zawng zawng a nghawng dan a inang lo tih hriatthiam a pawimawh . Damdawi awm lo mah se, damdawi lam enkawlna dik leh enkawl dan tur ruahmanna siam chuan nangmah emaw i fa emaw chuan a natna lan chhuah dan chu i enkawl thei a, a theih ang anga nun hrisel takin i nung thei a ni. Damdawi lam enkawlna mumal neih a pawimawh a, doctor thupek zawm a pawimawh. Hemi chungchangah hian nangmah emaw, i chhungte zingah emaw zawhna i neih chuan Doctor nen inbiakna neih hreh suh. Anni chuan an pui thei ang che.

`Weaver Syndrome, Genetic Diseases, Ruh thang, san zawng, EZH2 Gene, Neuroblastoma te a awm bawk